#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
NRXN1	9378	broad.mit.edu	37	2	50779760	50779760	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:50779760C>A	ENST00000406316.2	-	9	3200	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000404971.1_Missense_Mutation_p.W615L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	575	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACATGATACCATTCTCCATC	0.463																																						uc021vhg.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1843-1845)tGg>tTg		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							146.0	136.0	139.0					2																	50779760		1896	4108	6004	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50779760C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1724G>T	2.37:g.50779760C>A	ENSP00000384311:p.Trp575Leu		Somatic				NRXN1_uc002rxb.4_Missense_Mutation_p.W247L|NRXN1_uc021vhh.1_Missense_Mutation_p.W575L|NRXN1_uc021vhi.1_Missense_Mutation_p.W611L|NRXN1_uc021vhj.1_Missense_Mutation_p.W571L|NRXN1_uc002rxc.1_Non-coding_Transcript	p.W615L	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2765	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	575			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1844G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989854	0.93106	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	H	0.94964	3.605	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.999;1.0	D	0.93322	0.6693	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	615;575;567	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	615;575;567;575;616;567;575	ENSP00000385142:W615L;ENSP00000384311:W575L;ENSP00000434015:W567L;ENSP00000385017:W575L;ENSP00000385434:W567L;ENSP00000385681:W575L	ENSP00000385017:W575L	W	-	2	0	NRXN1	50633264	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.764000	0.85297	2.814000	0.96858	0.591000	0.81541	TGG		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	155	0	0	0	1	0	5	155				
ARMCX3	51566	broad.mit.edu	37	X	100880307	100880307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:100880307C>A	ENST00000341189.4	+	5	1204	c.338C>A	c.(337-339)tCa>tAa	p.S113*	ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	113					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCCCCAATTCAGATGATACC	0.527																																						uc004ehz.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(337-339)tCa>tAa		Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 1, mRNA.							60.0	55.0	56.0					X																	100880307		2202	4299	6501	SO:0001587	stop_gained	51566					integral to membrane	binding	g.chrX:100880307C>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.338C>A	X.37:g.100880307C>A	ENSP00000340672:p.Ser113*		Somatic				ARMCX3_uc004eia.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.S113*|ARMCX3_uc022cap.1_Nonsense_Mutation_p.S113*	p.S113*	NM_016607	NP_808817	WXS	Illumina GAIIx	Phase_I	Q9UH62	ARMX3_HUMAN			4	871	+			113					Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	37	c.338C>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008815	0.97998	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.08	4.08	0.47627	.	0.333185	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8572	10.7694	0.46314	0.0:1.0:0.0:0.0	.	.	.	.	X	113	.	.	S	+	2	0	ARMCX3	100766963	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.305000	0.77605	0.523000	0.50628	TCA		0.527	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		13	108	0	0	0	1	0	13	108				
MUC17	140453	broad.mit.edu	37	7	100681033	100681033	+	Silent	SNP	G	G	A	rs368015481	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr7:100681033G>A	ENST00000306151.4	+	3	6400	c.6336G>A	c.(6334-6336)acG>acA	p.T2112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCGGTGGCCA	0.498													G|||	3	0.000599042	0.0	0.0	5008	,	,		25736	0.002		0.001	False		,,,				2504	0.0					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6334-6336)acG>acA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.		G		0,4406		0,0,2203	209.0	212.0	211.0		6336	-1.9	0.0	7		211	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	MUC17	NM_001040105.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2112/4494	100681033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681033G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6336G>A	7.37:g.100681033G>A			Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.T2112T	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	6389	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6336G>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	436	0	0	0	1	0	6	436				
GPLD1	2822	broad.mit.edu	37	6	24446031	24446031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:24446031C>A	ENST00000230036.1	-	19	1959	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	617					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTTTCTCATCTCGGATG	0.532																																						uc003ned.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1849-1851)Gag>Tag		Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.							112.0	111.0	111.0					6																	24446031		2203	4300	6503	SO:0001587	stop_gained	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446031C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1849G>T	6.37:g.24446031C>A	ENSP00000230036:p.Glu617*		Somatic					p.E617*	NM_001503	NP_001494	WXS	Illumina GAIIx	Phase_I	P80108	PHLD_HUMAN			18	1960	-			617					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Nonsense_Mutation	SNP	ENST00000230036.1	37	c.1849G>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555615	0.96514	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.49	4.62	0.57501	.	0.478268	0.20745	N	0.086463	.	.	.	.	.	.	0.24283	N	0.995196	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-12.6895	11.0533	0.47903	0.0:0.8494:0.0:0.1506	.	.	.	.	X	617	.	ENSP00000230036:E617X	E	-	1	0	GPLD1	24554010	0.009000	0.17119	0.015000	0.15790	0.404000	0.30871	1.849000	0.39318	1.301000	0.44836	0.655000	0.94253	GAG		0.532	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		4	105	0	0	0	1	0	4	105				
FRY	10129	broad.mit.edu	37	13	32698958	32698958	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:32698958T>C	ENST00000380250.3	+	7	1158	c.662T>C	c.(661-663)aTg>aCg	p.M221T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTGGCAATATGCATATTGTG	0.438																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(661-663)aTg>aCg		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							142.0	137.0	139.0					13																	32698958		1934	4145	6079	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698958T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.662T>C	13.37:g.32698958T>C	ENSP00000369600:p.Met221Thr		Somatic				FRY_uc010tdw.2_Non-coding_Transcript	p.M221T	NM_023037	NP_075463	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	6	1158	+		Lung SC(185;0.0271)	221					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.662T>C	CCDS41875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.62|17.62	3.434827|3.434827	0.62955|0.62955	.|.	.|.	ENSG00000073910|ENSG00000073910	ENST00000267067|ENST00000380250	.|T	.|0.23147	.|1.92	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.30634	.|0.288	.|B	.|0.25140	.|0.058	T|T	0.03344|0.03344	-1.1046|-1.1046	6|10	0.87932|0.22706	D|T	0|0.39	.|.	15.5243|15.5243	0.75890|0.75890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|221	.|Q5TBA9	.|FRY_HUMAN	R|T	148|221	.|ENSP00000369600:M221T	ENSP00000267067:C148R|ENSP00000369600:M221T	C|M	+|+	1|2	0|0	FRY|FRY	31596958|31596958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.040000|8.040000	0.89188|0.89188	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGC|ATG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	201	0	0	0	1	0	5	201				
ARHGEF7	8874	broad.mit.edu	37	13	111870032	111870032	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr13:111870032A>G	ENST00000375741.2	+	6	788	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000544132.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	180					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTAGGACATGACCGATAATAG	0.378																																						uc001vrs.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(538-540)Acc>Gcc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.							109.0	104.0	105.0					13																	111870032		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr13:111870032A>G	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.538A>G	13.37:g.111870032A>G	ENSP00000364893:p.Thr180Ala		Somatic				ARHGEF7_uc001vrr.2_Missense_Mutation_p.T159A|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T130A|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrw.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrx.4_Missense_Mutation_p.T2A|ARHGEF7_uc010tjo.2_Missense_Mutation_p.T77A	p.T180A	NM_001113511	NP_001106983	WXS	Illumina GAIIx	Phase_I	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	788	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		180					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.538A>G	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377007	0.61735	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000491775;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;D;T;T;T;T;T;T;T;T	0.94828	0.65;0.65;0.65;0.9;-3.53;0.7;0.68;0.71;0.7;0.71;0.89;0.67;0.65	4.82	4.82	0.62117	.	0.054190	0.64402	D	0.000001	D	0.90246	0.6950	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.25521	0.021;0.121;0.025;0.128	B;B;B;B	0.25759	0.014;0.063;0.034;0.06	D	0.88542	0.3110	10	0.66056	D	0.02	.	14.697	0.69129	1.0:0.0:0.0:0.0	.	77;130;180;159	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	A	159;180;130;2;87;157;2;2;2;2;2;2;77;77;2	ENSP00000325994:T159A;ENSP00000364893:T180A;ENSP00000364891:T130A;ENSP00000406732:T2A;ENSP00000359657:T87A;ENSP00000418067:T2A;ENSP00000218789:T2A;ENSP00000364888:T2A;ENSP00000420592:T2A;ENSP00000397068:T2A;ENSP00000389890:T77A;ENSP00000364889:T77A;ENSP00000364875:T2A	ENSP00000218789:T2A	T	+	1	0	ARHGEF7	110668033	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	5.480000	0.66820	1.918000	0.55548	0.533000	0.62120	ACC		0.378	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		3	63	0	0	0	1	0	3	63				
DMBT1	1755	broad.mit.edu	37	10	124336139	124336139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr10:124336139C>T	ENST00000338354.3	+	7	614	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R170C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	170	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATGATGTGCGCTGCTCAGG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(508-510)Cgc>Tgc		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							147.0	143.0	145.0					10																	124336139		2068	4243	6311	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336139C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.508C>T	10.37:g.124336139C>T	ENSP00000342210:p.Arg170Cys		Somatic				DMBT1_uc001lgl.1_Missense_Mutation_p.R170C|DMBT1_uc001lgm.1_Missense_Mutation_p.R170C|DMBT1_uc021qaf.1_Missense_Mutation_p.R170C|DMBT1_uc021qag.1_Missense_Mutation_p.R170C|DMBT1_uc021qah.1_Missense_Mutation_p.R170C|DMBT1_uc009xzz.1_Missense_Mutation_p.R170C|DMBT1_uc010qtx.1_Missense_Mutation_p.R170C|DMBT1_uc009yaa.1_Missense_Mutation_p.R22C	p.R170C	NM_007329	NP_015568	WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			6	614	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	170			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.508C>T		.	.	.	.	.	.	.	.	.	.	c	14.36	2.513656	0.44763	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.63	-5.58	0.02512	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.895030	0.03666	U	0.243313	T	0.70168	0.3193	M	0.92880	3.355	0.09310	N	1	B;D;P;D;D;D	0.89917	0.405;0.999;0.954;0.998;0.997;1.0	B;D;P;P;P;D	0.74023	0.04;0.931;0.592;0.627;0.804;0.982	T	0.71006	-0.4717	10	0.52906	T	0.07	.	12.8229	0.57704	0.3295:0.1672:0.5033:0.0	.	170;170;170;170;170;170	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	170	ENSP00000342210:R170C;ENSP00000343175:R170C;ENSP00000327747:R170C;ENSP00000357905:R170C;ENSP00000357951:R170C;ENSP00000357952:R170C;ENSP00000352593:R170C	ENSP00000331522:R170C	R	+	1	0	DMBT1	124326129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.709000	0.00056	-1.523000	0.01767	-0.176000	0.13171	CGC		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	217	0	0	0	1	0	5	217				
YY2	404281	broad.mit.edu	37	X	21875408	21875408	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chrX:21875408C>T	ENST00000429584.2	+	1	1304	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGGATTACGCCGCCATGAGA	0.498																																						uc011mjp.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)gCc>gTc		Homo sapiens YY2 transcription factor (YY2), mRNA.							122.0	123.0	122.0					X																	21875408		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875408C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.806C>T	X.37:g.21875408C>T	ENSP00000389381:p.Ala269Val		Somatic				MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	p.A269V	NM_206923	NP_996806	WXS	Illumina GAIIx	Phase_I	O15391	TYY2_HUMAN			0	1304	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.806C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032576	0.19590	.	.	ENSG00000230797	ENST00000429584	T	0.10382	2.88	4.52	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.24701	0.055	T	0.21999	-1.0229	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.5116:0.4884:0.0	.	269	O15391	TYY2_HUMAN	V	269	ENSP00000389381:A269V	ENSP00000389381:A269V	A	+	2	0	YY2	21785329	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	2.107000	0.41844	0.104000	0.17725	-0.202000	0.12741	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	310	0	0	0	1	0	5	310				
LBP	3929	broad.mit.edu	37	20	37002620	37002620	+	Missense_Mutation	SNP	G	G	A	rs544709874		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr20:37002620G>A	ENST00000217407.2	+	14	1525	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	455					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCTGAAGCGTGTTCAGCTC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20557	0.001		0.0	False		,,,				2504	0.0					uc002xic.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1363-1365)cGt>cAt		Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.							93.0	85.0	88.0					20																	37002620		2203	4300	6503	SO:0001583	missense	3929				Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37002620G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1364G>A	20.37:g.37002620G>A	ENSP00000217407:p.Arg455His		Somatic					p.R455H	NM_004139	NP_004130	WXS	Illumina GAIIx	Phase_I	P18428	LBP_HUMAN			13	1399	+		Myeloproliferative disorder(115;0.00878)	455					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1364G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.599005	0.00125	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.06528	3.29	5.01	-10.0	0.00425	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.482540	0.03811	N	0.265874	T	0.03827	0.0108	N	0.03000	-0.44	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52895	-0.8514	10	0.25751	T	0.34	5.3301	22.978	0.99978	0.222:0.0:0.778:0.0	.	455	P18428	LBP_HUMAN	H	455	ENSP00000217407:R455H	ENSP00000217407:R455H	R	+	2	0	LBP	36436034	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.634000	0.00869	-3.973000	0.00085	-1.084000	0.02203	CGT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		28	79	0	0	0	1	0	28	79				
MAGI3	260425	broad.mit.edu	37	1	114137161	114137161	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr1:114137161C>A	ENST00000307546.9	+	6	1072	c.997C>A	c.(997-999)Cct>Act	p.P333T	MAGI3_ENST00000369615.1_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	333					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCAAAGCCCCTGAAGACTG	0.368																																						uc001edk.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(997-999)Cct>Act		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							100.0	104.0	102.0					1																	114137161		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114137161C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.997C>A	1.37:g.114137161C>A	ENSP00000304604:p.Pro333Thr		Somatic				MAGI3_uc001edh.3_Missense_Mutation_p.P333T|MAGI3_uc001edi.4_Missense_Mutation_p.P333T|MAGI3_uc010owm.2_Missense_Mutation_p.P333T|MAGI3_uc001edj.3_Missense_Mutation_p.P54T	p.P333T	NM_001142782	NP_001136254	WXS	Illumina GAIIx	Phase_I	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1178	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	333					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.997C>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683308	0.88542	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.20332	2.33;2.08;2.31;2.31	5.53	5.53	0.82687	.	0.049103	0.85682	D	0.000000	T	0.37237	0.0996	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.982;0.996	T	0.13388	-1.0511	10	0.87932	D	0	-17.557	19.4668	0.94946	0.0:1.0:0.0:0.0	.	333;333;333	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	333	ENSP00000358630:P333T;ENSP00000304604:P333T;ENSP00000358628:P333T;ENSP00000358624:P333T	ENSP00000304604:P333T	P	+	1	0	MAGI3	113938684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.613000	0.88420	0.585000	0.79938	CCT		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	115	0	0	0	1	0	4	115				
ADAMTS19	171019	broad.mit.edu	37	5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr5:128863519A>T	ENST00000274487.4	+	5	1292	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1147-1149)Act>Tct		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							88.0	94.0	92.0					5																	128863519		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863519A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1147A>T	5.37:g.128863519A>T	ENSP00000274487:p.Thr383Ser		Somatic				ADAMTS19_uc003kvc.1_Non-coding_Transcript	p.T383S	NM_133638	NP_598377	WXS	Illumina GAIIx	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1147	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	383			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1147A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443333	0.43429	.	.	ENSG00000145808	ENST00000274487	T	0.62639	0.01	4.41	4.41	0.53225	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.158954	0.41712	D	0.000833	T	0.35770	0.0943	N	0.03608	-0.345	0.31821	N	0.625927	B	0.19200	0.034	B	0.26310	0.068	T	0.38156	-0.9674	9	.	.	.	.	9.5679	0.39409	0.7405:0.0:0.0:0.2595	.	383	Q8TE59	ATS19_HUMAN	S	383	ENSP00000274487:T383S	.	T	+	1	0	ADAMTS19	128891418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.209000	0.71365	0.460000	0.39030	ACT		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		48	79	0	0	0	1	0	48	79				
AMBP	259	broad.mit.edu	37	9	116839008	116839008	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr9:116839008A>C	ENST00000265132.3	-	2	392	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGTTGTACCACTTCCCATAG	0.597																																						uc004bie.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(130-132)Tgg>Ggg		Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						110.0	78.0	89.0					9																	116839008		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116839008A>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.130T>G	9.37:g.116839008A>C	ENSP00000265132:p.Trp44Gly		Somatic				AMBP_uc011lxk.2_5'UTR|AMBP_uc010mvc.1_Non-coding_Transcript	p.W44G	NM_001633	NP_001624	WXS	Illumina GAIIx	Phase_I	P02760	AMBP_HUMAN			1	393	-			44					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.130T>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995141	0.54147	.	.	ENSG00000106927	ENST00000265132	D	0.99557	-6.16	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.59425	D	0.04	.	8.9958	0.36052	1.0:0.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	G	44	ENSP00000265132:W44G	ENSP00000265132:W44G	W	-	1	0	AMBP	115878829	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	5.463000	0.66712	1.624000	0.50355	0.459000	0.35465	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		19	49	0	0	0	1	0	19	49				
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0					uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							98.0	111.0	107.0					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser		Somatic				GLI2_uc010yyu.1_Missense_Mutation_p.G91S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.G91S	p.G91S	NM_005270	NP_005261	WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			2	301	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		6	194	0	0	0	1	0	6	194				
MIR1324	100302212	broad.mit.edu	37	3	75679970	75679970	+	RNA	SNP	G	G	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr3:75679970G>T	ENST00000408868.1	+	0	57					NR_031714.1				microRNA 1324																		CTTCCCTCTGGGTACCAGACA	0.507																																						uc021xar.1																			0													Homo sapiens microRNA 1324 (MIR1324), microRNA.							77.0	76.0	76.0					3																	75679970		1568	3578	5146			100302212							g.chr3:75679970G>T			3	2011-09-12		2008-12-18	ENSG00000221795	ENSG00000221795		"""ncRNAs / Micro RNAs"""	35377	non-coding RNA	RNA, micro				MIRN1324			Standard	NR_031714		Approved	hsa-mir-1324	uc021xar.1				3.37:g.75679970G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0		+									RNA	SNP	ENST00000408868.1	37	c.57G>T																																																																																					0.507	MIR1324-201	KNOWN	basic	miRNA	miRNA		NR_031714		7	120	0	0	0	1	0	7	120				
NRXN1	9378	broad.mit.edu	37	2	50779760	50779760	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr2:50779760C>A	ENST00000406316.2	-	9	3200	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	NRXN1_ENST00000406859.3_Missense_Mutation_p.W575L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W567L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.W575L|NRXN1_ENST00000402717.3_Missense_Mutation_p.W567L|NRXN1_ENST00000404971.1_Missense_Mutation_p.W615L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	575	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACATGATACCATTCTCCATC	0.463																																						uc021vhg.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1843-1845)tGg>tTg		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							146.0	136.0	139.0					2																	50779760		1896	4108	6004	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50779760C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1724G>T	2.37:g.50779760C>A	ENSP00000384311:p.Trp575Leu		Somatic				NRXN1_uc002rxb.4_Missense_Mutation_p.W247L|NRXN1_uc021vhh.1_Missense_Mutation_p.W575L|NRXN1_uc021vhi.1_Missense_Mutation_p.W611L|NRXN1_uc021vhj.1_Missense_Mutation_p.W571L|NRXN1_uc002rxc.1_Non-coding_Transcript	p.W615L	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2765	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	575			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1844G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989854	0.93106	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	H	0.94964	3.605	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.999;1.0	D	0.93322	0.6693	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	615;575;567	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	615;575;567;575;616;567;575	ENSP00000385142:W615L;ENSP00000384311:W575L;ENSP00000434015:W567L;ENSP00000385017:W575L;ENSP00000385434:W567L;ENSP00000385681:W575L	ENSP00000385017:W575L	W	-	2	0	NRXN1	50633264	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.764000	0.85297	2.814000	0.96858	0.591000	0.81541	TGG		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	155	0	0	0	1	0	5	155				
ARMCX3	51566	broad.mit.edu	37	X	100880307	100880307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chrX:100880307C>A	ENST00000341189.4	+	5	1204	c.338C>A	c.(337-339)tCa>tAa	p.S113*	ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.S113*|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.S113*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	113					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCCCCAATTCAGATGATACC	0.527																																						uc004ehz.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(337-339)tCa>tAa		Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 1, mRNA.							60.0	55.0	56.0					X																	100880307		2202	4299	6501	SO:0001587	stop_gained	51566					integral to membrane	binding	g.chrX:100880307C>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.338C>A	X.37:g.100880307C>A	ENSP00000340672:p.Ser113*		Somatic				ARMCX3_uc004eia.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.S113*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.S113*|ARMCX3_uc022cap.1_Nonsense_Mutation_p.S113*	p.S113*	NM_016607	NP_808817	WXS	Illumina GAIIx	Phase_I	Q9UH62	ARMX3_HUMAN			4	871	+			113					Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	37	c.338C>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008815	0.97998	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.08	4.08	0.47627	.	0.333185	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8572	10.7694	0.46314	0.0:1.0:0.0:0.0	.	.	.	.	X	113	.	.	S	+	2	0	ARMCX3	100766963	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.018000	0.49625	2.305000	0.77605	0.523000	0.50628	TCA		0.527	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		13	108	0	0	0	1	0	13	108				
MUC17	140453	broad.mit.edu	37	7	100681033	100681033	+	Silent	SNP	G	G	A	rs368015481	byFrequency	TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr7:100681033G>A	ENST00000306151.4	+	3	6400	c.6336G>A	c.(6334-6336)acG>acA	p.T2112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCCGGTGGCCA	0.498													G|||	3	0.000599042	0.0	0.0	5008	,	,		25736	0.002		0.001	False		,,,				2504	0.0					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6334-6336)acG>acA		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.		G		0,4406		0,0,2203	209.0	212.0	211.0		6336	-1.9	0.0	7		211	3,8597	819.1+/-406.8	0,3,4297	no	coding-synonymous	MUC17	NM_001040105.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		2112/4494	100681033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681033G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6336G>A	7.37:g.100681033G>A			Somatic				MUC17_uc010lho.1_Non-coding_Transcript	p.T2112T	NM_001040105	NP_001035194	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	6389	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6336G>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	436	0	0	0	1	0	6	436				
GPLD1	2822	broad.mit.edu	37	6	24446031	24446031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr6:24446031C>A	ENST00000230036.1	-	19	1959	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	617					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTTTCTCATCTCGGATG	0.532																																						uc003ned.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(1849-1851)Gag>Tag		Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.							112.0	111.0	111.0					6																	24446031		2203	4300	6503	SO:0001587	stop_gained	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24446031C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1849G>T	6.37:g.24446031C>A	ENSP00000230036:p.Glu617*		Somatic					p.E617*	NM_001503	NP_001494	WXS	Illumina GAIIx	Phase_I	P80108	PHLD_HUMAN			18	1960	-			617					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Nonsense_Mutation	SNP	ENST00000230036.1	37	c.1849G>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555615	0.96514	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.49	4.62	0.57501	.	0.478268	0.20745	N	0.086463	.	.	.	.	.	.	0.24283	N	0.995196	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-12.6895	11.0533	0.47903	0.0:0.8494:0.0:0.1506	.	.	.	.	X	617	.	ENSP00000230036:E617X	E	-	1	0	GPLD1	24554010	0.009000	0.17119	0.015000	0.15790	0.404000	0.30871	1.849000	0.39318	1.301000	0.44836	0.655000	0.94253	GAG		0.532	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		4	105	0	0	0	1	0	4	105				
FRY	10129	broad.mit.edu	37	13	32698958	32698958	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr13:32698958T>C	ENST00000380250.3	+	7	1158	c.662T>C	c.(661-663)aTg>aCg	p.M221T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	221						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTGGCAATATGCATATTGTG	0.438																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(661-663)aTg>aCg		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							142.0	137.0	139.0					13																	32698958		1934	4145	6079	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698958T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.662T>C	13.37:g.32698958T>C	ENSP00000369600:p.Met221Thr		Somatic				FRY_uc010tdw.2_Non-coding_Transcript	p.M221T	NM_023037	NP_075463	WXS	Illumina GAIIx	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	6	1158	+		Lung SC(185;0.0271)	221					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.662T>C	CCDS41875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.62|17.62	3.434827|3.434827	0.62955|0.62955	.|.	.|.	ENSG00000073910|ENSG00000073910	ENST00000267067|ENST00000380250	.|T	.|0.23147	.|1.92	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B	.|0.30634	.|0.288	.|B	.|0.25140	.|0.058	T|T	0.03344|0.03344	-1.1046|-1.1046	6|10	0.87932|0.22706	D|T	0|0.39	.|.	15.5243|15.5243	0.75890|0.75890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|221	.|Q5TBA9	.|FRY_HUMAN	R|T	148|221	.|ENSP00000369600:M221T	ENSP00000267067:C148R|ENSP00000369600:M221T	C|M	+|+	1|2	0|0	FRY|FRY	31596958|31596958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.040000|8.040000	0.89188|0.89188	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGC|ATG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	201	0	0	0	1	0	5	201				
ARHGEF7	8874	broad.mit.edu	37	13	111870032	111870032	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr13:111870032A>G	ENST00000375741.2	+	6	788	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.T2A|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.T159A|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.T77A|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.T2A|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.T2A|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.T130A|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.T87A|ARHGEF7_ENST00000544132.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	180					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTAGGACATGACCGATAATAG	0.378																																						uc001vrs.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(538-540)Acc>Gcc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.							109.0	104.0	105.0					13																	111870032		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding	g.chr13:111870032A>G	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.538A>G	13.37:g.111870032A>G	ENSP00000364893:p.Thr180Ala		Somatic				ARHGEF7_uc001vrr.2_Missense_Mutation_p.T159A|ARHGEF7_uc001vrt.2_Missense_Mutation_p.T130A|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrw.4_Missense_Mutation_p.T2A|ARHGEF7_uc001vrx.4_Missense_Mutation_p.T2A|ARHGEF7_uc010tjo.2_Missense_Mutation_p.T77A	p.T180A	NM_001113511	NP_001106983	WXS	Illumina GAIIx	Phase_I	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	788	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		180					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.538A>G	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377007	0.61735	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000491775;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;D;T;T;T;T;T;T;T;T	0.94828	0.65;0.65;0.65;0.9;-3.53;0.7;0.68;0.71;0.7;0.71;0.89;0.67;0.65	4.82	4.82	0.62117	.	0.054190	0.64402	D	0.000001	D	0.90246	0.6950	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.25521	0.021;0.121;0.025;0.128	B;B;B;B	0.25759	0.014;0.063;0.034;0.06	D	0.88542	0.3110	10	0.66056	D	0.02	.	14.697	0.69129	1.0:0.0:0.0:0.0	.	77;130;180;159	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	A	159;180;130;2;87;157;2;2;2;2;2;2;77;77;2	ENSP00000325994:T159A;ENSP00000364893:T180A;ENSP00000364891:T130A;ENSP00000406732:T2A;ENSP00000359657:T87A;ENSP00000418067:T2A;ENSP00000218789:T2A;ENSP00000364888:T2A;ENSP00000420592:T2A;ENSP00000397068:T2A;ENSP00000389890:T77A;ENSP00000364889:T77A;ENSP00000364875:T2A	ENSP00000218789:T2A	T	+	1	0	ARHGEF7	110668033	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	5.480000	0.66820	1.918000	0.55548	0.533000	0.62120	ACC		0.378	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		3	63	0	0	0	1	0	3	63				
DMBT1	1755	broad.mit.edu	37	10	124336139	124336139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr10:124336139C>T	ENST00000338354.3	+	7	614	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	DMBT1_ENST00000368956.2_Missense_Mutation_p.R170C|DMBT1_ENST00000359586.6_Missense_Mutation_p.R170C|DMBT1_ENST00000368955.3_Missense_Mutation_p.R170C|DMBT1_ENST00000330163.4_Missense_Mutation_p.R170C|DMBT1_ENST00000344338.3_Missense_Mutation_p.R170C|DMBT1_ENST00000368909.3_Missense_Mutation_p.R170C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	170	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGATGATGTGCGCTGCTCAGG	0.587																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(508-510)Cgc>Tgc		Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.							147.0	143.0	145.0					10																	124336139		2068	4243	6311	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336139C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.508C>T	10.37:g.124336139C>T	ENSP00000342210:p.Arg170Cys		Somatic				DMBT1_uc001lgl.1_Missense_Mutation_p.R170C|DMBT1_uc001lgm.1_Missense_Mutation_p.R170C|DMBT1_uc021qaf.1_Missense_Mutation_p.R170C|DMBT1_uc021qag.1_Missense_Mutation_p.R170C|DMBT1_uc021qah.1_Missense_Mutation_p.R170C|DMBT1_uc009xzz.1_Missense_Mutation_p.R170C|DMBT1_uc010qtx.1_Missense_Mutation_p.R170C|DMBT1_uc009yaa.1_Missense_Mutation_p.R22C	p.R170C	NM_007329	NP_015568	WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			6	614	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	170			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.508C>T		.	.	.	.	.	.	.	.	.	.	c	14.36	2.513656	0.44763	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.63	-5.58	0.02512	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.895030	0.03666	U	0.243313	T	0.70168	0.3193	M	0.92880	3.355	0.09310	N	1	B;D;P;D;D;D	0.89917	0.405;0.999;0.954;0.998;0.997;1.0	B;D;P;P;P;D	0.74023	0.04;0.931;0.592;0.627;0.804;0.982	T	0.71006	-0.4717	10	0.52906	T	0.07	.	12.8229	0.57704	0.3295:0.1672:0.5033:0.0	.	170;170;170;170;170;170	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	C	170	ENSP00000342210:R170C;ENSP00000343175:R170C;ENSP00000327747:R170C;ENSP00000357905:R170C;ENSP00000357951:R170C;ENSP00000357952:R170C;ENSP00000352593:R170C	ENSP00000331522:R170C	R	+	1	0	DMBT1	124326129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.709000	0.00056	-1.523000	0.01767	-0.176000	0.13171	CGC		0.587	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	217	0	0	0	1	0	5	217				
YY2	404281	broad.mit.edu	37	X	21875408	21875408	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chrX:21875408C>T	ENST00000429584.2	+	1	1304	c.806C>T	c.(805-807)gCc>gTc	p.A269V	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGGGATTACGCCGCCATGAGA	0.498																																						uc011mjp.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)gCc>gTc		Homo sapiens YY2 transcription factor (YY2), mRNA.							122.0	123.0	122.0					X																	21875408		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875408C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.806C>T	X.37:g.21875408C>T	ENSP00000389381:p.Ala269Val		Somatic				MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	p.A269V	NM_206923	NP_996806	WXS	Illumina GAIIx	Phase_I	O15391	TYY2_HUMAN			0	1304	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.806C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032576	0.19590	.	.	ENSG00000230797	ENST00000429584	T	0.10382	2.88	4.52	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.24701	0.055	T	0.21999	-1.0229	10	0.87932	D	0	.	13.0524	0.58962	0.0:0.5116:0.4884:0.0	.	269	O15391	TYY2_HUMAN	V	269	ENSP00000389381:A269V	ENSP00000389381:A269V	A	+	2	0	YY2	21785329	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	2.107000	0.41844	0.104000	0.17725	-0.202000	0.12741	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	310	0	0	0	1	0	5	310				
LBP	3929	broad.mit.edu	37	20	37002620	37002620	+	Missense_Mutation	SNP	G	G	A	rs544709874		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr20:37002620G>A	ENST00000217407.2	+	14	1525	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	455					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGCTGAAGCGTGTTCAGCTC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		20557	0.001		0.0	False		,,,				2504	0.0					uc002xic.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1363-1365)cGt>cAt		Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.							93.0	85.0	88.0					20																	37002620		2203	4300	6503	SO:0001583	missense	3929				Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:37002620G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1364G>A	20.37:g.37002620G>A	ENSP00000217407:p.Arg455His		Somatic					p.R455H	NM_004139	NP_004130	WXS	Illumina GAIIx	Phase_I	P18428	LBP_HUMAN			13	1399	+		Myeloproliferative disorder(115;0.00878)	455					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.1364G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.599005	0.00125	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.06528	3.29	5.01	-10.0	0.00425	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.482540	0.03811	N	0.265874	T	0.03827	0.0108	N	0.03000	-0.44	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.52895	-0.8514	10	0.25751	T	0.34	5.3301	22.978	0.99978	0.222:0.0:0.778:0.0	.	455	P18428	LBP_HUMAN	H	455	ENSP00000217407:R455H	ENSP00000217407:R455H	R	+	2	0	LBP	36436034	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.634000	0.00869	-3.973000	0.00085	-1.084000	0.02203	CGT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		28	79	0	0	0	1	0	28	79				
MAGI3	260425	broad.mit.edu	37	1	114137161	114137161	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr1:114137161C>A	ENST00000307546.9	+	6	1072	c.997C>A	c.(997-999)Cct>Act	p.P333T	MAGI3_ENST00000369615.1_Missense_Mutation_p.P333T|MAGI3_ENST00000369617.4_Missense_Mutation_p.P333T|MAGI3_ENST00000369611.4_Missense_Mutation_p.P333T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	333					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCAAAGCCCCTGAAGACTG	0.368																																						uc001edk.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(997-999)Cct>Act		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							100.0	104.0	102.0					1																	114137161		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114137161C>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.997C>A	1.37:g.114137161C>A	ENSP00000304604:p.Pro333Thr		Somatic				MAGI3_uc001edh.3_Missense_Mutation_p.P333T|MAGI3_uc001edi.4_Missense_Mutation_p.P333T|MAGI3_uc010owm.2_Missense_Mutation_p.P333T|MAGI3_uc001edj.3_Missense_Mutation_p.P54T	p.P333T	NM_001142782	NP_001136254	WXS	Illumina GAIIx	Phase_I	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1178	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	333					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.997C>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683308	0.88542	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.20332	2.33;2.08;2.31;2.31	5.53	5.53	0.82687	.	0.049103	0.85682	D	0.000000	T	0.37237	0.0996	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.982;0.996	T	0.13388	-1.0511	10	0.87932	D	0	-17.557	19.4668	0.94946	0.0:1.0:0.0:0.0	.	333;333;333	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	333	ENSP00000358630:P333T;ENSP00000304604:P333T;ENSP00000358628:P333T;ENSP00000358624:P333T	ENSP00000304604:P333T	P	+	1	0	MAGI3	113938684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.613000	0.88420	0.585000	0.79938	CCT		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	115	0	0	0	1	0	4	115				
ADAMTS19	171019	broad.mit.edu	37	5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr5:128863519A>T	ENST00000274487.4	+	5	1292	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	383	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308																																						uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1147-1149)Act>Tct		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.							88.0	94.0	92.0					5																	128863519		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863519A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1147A>T	5.37:g.128863519A>T	ENSP00000274487:p.Thr383Ser		Somatic				ADAMTS19_uc003kvc.1_Non-coding_Transcript	p.T383S	NM_133638	NP_598377	WXS	Illumina GAIIx	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1147	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	383			Peptidase M12B.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1147A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443333	0.43429	.	.	ENSG00000145808	ENST00000274487	T	0.62639	0.01	4.41	4.41	0.53225	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.158954	0.41712	D	0.000833	T	0.35770	0.0943	N	0.03608	-0.345	0.31821	N	0.625927	B	0.19200	0.034	B	0.26310	0.068	T	0.38156	-0.9674	9	.	.	.	.	9.5679	0.39409	0.7405:0.0:0.0:0.2595	.	383	Q8TE59	ATS19_HUMAN	S	383	ENSP00000274487:T383S	.	T	+	1	0	ADAMTS19	128891418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.529000	0.53532	2.209000	0.71365	0.460000	0.39030	ACT		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		48	79	0	0	0	1	0	48	79				
AMBP	259	broad.mit.edu	37	9	116839008	116839008	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr9:116839008A>C	ENST00000265132.3	-	2	392	c.130T>G	c.(130-132)Tgg>Ggg	p.W44G		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGTTGTACCACTTCCCATAG	0.597																																						uc004bie.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(130-132)Tgg>Ggg		Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						110.0	78.0	89.0					9																	116839008		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116839008A>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.130T>G	9.37:g.116839008A>C	ENSP00000265132:p.Trp44Gly		Somatic				AMBP_uc011lxk.2_5'UTR|AMBP_uc010mvc.1_Non-coding_Transcript	p.W44G	NM_001633	NP_001624	WXS	Illumina GAIIx	Phase_I	P02760	AMBP_HUMAN			1	393	-			44					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.130T>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995141	0.54147	.	.	ENSG00000106927	ENST00000265132	D	0.99557	-6.16	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98797	1.0738	10	0.59425	D	0.04	.	8.9958	0.36052	1.0:0.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	G	44	ENSP00000265132:W44G	ENSP00000265132:W44G	W	-	1	0	AMBP	115878829	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	5.463000	0.66712	1.624000	0.50355	0.459000	0.35465	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		19	49	0	0	0	1	0	19	49				
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0					uc010flp.3																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.							98.0	111.0	107.0					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser		Somatic				GLI2_uc010yyu.1_Missense_Mutation_p.G91S|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.G91S	p.G91S	NM_005270	NP_005261	WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			2	301	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		6	194	0	0	0	1	0	6	194				
MIR1324	100302212	broad.mit.edu	37	3	75679970	75679970	+	RNA	SNP	G	G	T			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-11A-21D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	7511fac0-79c5-480b-a717-3df40b4310bc	g.chr3:75679970G>T	ENST00000408868.1	+	0	57					NR_031714.1				microRNA 1324																		CTTCCCTCTGGGTACCAGACA	0.507																																						uc021xar.1																			0													Homo sapiens microRNA 1324 (MIR1324), microRNA.							77.0	76.0	76.0					3																	75679970		1568	3578	5146			100302212							g.chr3:75679970G>T			3	2011-09-12		2008-12-18	ENSG00000221795	ENSG00000221795		"""ncRNAs / Micro RNAs"""	35377	non-coding RNA	RNA, micro				MIRN1324			Standard	NR_031714		Approved	hsa-mir-1324	uc021xar.1				3.37:g.75679970G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0		+									RNA	SNP	ENST00000408868.1	37	c.57G>T																																																																																					0.507	MIR1324-201	KNOWN	basic	miRNA	miRNA		NR_031714		7	120	0	0	0	1	0	7	120				
AIM1	202	broad.mit.edu	37	6	106989150	106989150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A1CS-01A-11D-A13W-08	TCGA-EM-A1CS-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	645f8020-f9c7-407b-b3d4-149b956964a7	f1a11253-4f1b-42db-a81c-3979b7791777	g.chr6:106989150delG	ENST00000535438.1	+	1	122	c.58delG	c.(58-60)ggafs	p.G20fs	AIM1_ENST00000369066.3_Intron			Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		gtcagctcttggaactgcttt	0.438																																						uc003pri.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(13-15)ggafs		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							8.0	7.0	7.0					6																	106989150		854	1947	2801	SO:0001589	frameshift_variant	202						sugar binding	g.chr6:106989150delG	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000535438.1:c.58delG	6.37:g.106989150delG	ENSP00000439183:p.Gly20fs		Somatic				AIM1_uc003prh.3_Intron	p.G5fs	NM_001624	NP_001615	WXS	Illumina GAIIx	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	0	142	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	0					Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000535438.1	37	c.13delG																																																																																					0.438	AIM1-201	KNOWN	basic	protein_coding	protein_coding				2	4						2	4	---	---	---	---
