#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
KCNMA1	3778	broad.mit.edu	37	10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:78868281C>T	ENST00000286628.8	-	9	1180	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000286627.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	394					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GTATTTCTTGCGGTTTCCTAT	0.468																																						ENST00000286628.8	1.000000	0.080000	0.340000	0.140000	0.210000	0.275118	0.210000	0.190000																										0				68						c.(1180-1182)cGc>cAc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)						116.0	115.0	116.0					10																	78868281		2203	4300	6503	SO:0001583	missense	3778	0	0					g.chr10:78868281C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1181G>A	chr10.hg19:g.78868281C>T	ENSP00000286628:p.Arg394His	0					KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R394H	p.R394H	NM_001161352.1	NP_001154824.1	1	2	3	2.001266	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)	9	1180	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	0	1	hg19	c.1181G>A		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.003054|5.003054	0.93287|0.93287	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.86366	.|-2.1;-2.07;-2.08;-2.09;-2.1;-2.1;-2.1;-2.11;-2.09	5.92|5.92	5.92|5.92	0.95590|0.95590	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92805|0.92805	0.7712|0.7712	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;P	.|0.89917	.|1.0;0.979;0.988;1.0;0.988;0.911;0.895	.|D;B;P;D;P;P;B	.|0.91635	.|0.999;0.372;0.674;0.991;0.576;0.557;0.372	D|D	0.92656|0.92656	0.6137|0.6137	5|10	.|0.87932	.|D	.|0	-11.5534|-11.5534	20.3248|20.3248	0.98698|0.98698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;394;394;394;394;176;394	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	T|H	345|394;331;329;368;331;394;394;368;394;394;394;176	.|ENSP00000361517:R394H;ENSP00000361485:R331H;ENSP00000361514:R329H;ENSP00000396608:R368H;ENSP00000361520:R394H;ENSP00000286627:R394H;ENSP00000385552:R394H;ENSP00000346321:R394H;ENSP00000385806:R394H	.|ENSP00000286627:R394H	A|R	-|-	1|2	0|0	0|0	KCNMA1|KCNMA1	78538287|78538287	78538287|78538287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0.134501		TCGA-IB-AAUS-01A-12D-A38G-08	0.468	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	0	1	2	2	2	2	0	0	0	0	159	159	159	157	1	2	-1.966028	0	0.130000	NM_002247		0	6	6	0	466	455	0		1	0		0	0	159	0	0	0.962554	1.691070e-02	0	0	0	13	0	6	466
HECTD2	143279	broad.mit.edu	37	10	93261004	93261004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:93261004A>G	ENST00000298068.5	+	20	2217	c.2123A>G	c.(2122-2124)cAt>cGt	p.H708R	HECTD2_ENST00000446394.1_Missense_Mutation_p.H712R|HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	708	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AAGTTGCTACATTTTACTACA	0.353																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000298068.5	1.000000	0.280000	0.690000	0.380000	0.510000	0.548231	0.510000	0.490000																										0				27						c.(2122-2124)cAt>cGt		HECT domain containing E3 ubiquitin protein ligase 2							143.0	142.0	143.0					10																	93261004		2203	4300	6503	SO:0001583	missense	143279	0	0					g.chr10:93261004A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2123A>G	chr10.hg19:g.93261004A>G	ENSP00000298068:p.His708Arg	0					HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R|HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000446394.1_Missense_Mutation_p.H712R	p.H708R	NM_182765.3	NP_877497	1	2	3	2.001266	Q5U5R9	HECD2_HUMAN		20	2217	+			Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	1	1	hg19	c.2123A>G	CCDS7414.1	0	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198465	0.38806	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.73	5.73	0.89815	5.73	5.73	0.89815	HECT (4);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	N	0.02181	-0.65	0.54753	D	0.999988	B;B	0.17667	0.001;0.023	B;B	0.15870	0.002;0.014	T	0.24368	-1.0162	10	0.07030	T	0.85	.	14.5862	0.68326	1.0:0.0:0.0:0.0	.	712;708	E7ERR3;Q5U5R9	.;HECD2_HUMAN	R	712;708;297;358	ENSP00000401023:H712R;ENSP00000298068:H708R;ENSP00000439687:H297R;ENSP00000360731:H358R	ENSP00000298068:H708R	H	+	2	0	0	HECTD2	93250984	93250984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.837000	0.75354	2.180000	0.69256	0.533000	0.62120	CAT	0.134501		TCGA-IB-AAUS-01A-12D-A38G-08	0.353	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1	0	0	1	2	2	2	2	0	0	0	0	134	134	134	132	1	2	-13.088010	1	0.130000			0	13	13	0	397	391	0		1	0		0	0	134	0	0	0.999504	1.378633e-01	0	0	0	19	0	13	397
CRY2	1408	broad.mit.edu	37	11	45891310	45891310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:45891310C>T	ENST00000443527.2	+	7	1221	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	379	Required for inhibition of CLOCK-ARNTL- mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A379V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCCCGGCATGCCGTGGCCTGC	0.642																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2	1.000000	0.100000	0.560000	0.180000	0.310000	0.393147	0.310000	0.270000																										1	Substitution - Missense(1)	p.A379V(1)	prostate(1)	15						c.(1198-1200)gCc>gTc		cryptochrome circadian clock 2							41.0	45.0	43.0					11																	45891310		2203	4299	6502	SO:0001583	missense	1408	0	0					g.chr11:45891310C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1199C>T	chr11.hg19:g.45891310C>T	ENSP00000406751:p.Ala400Val	0					CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	p.A400V	NM_021117.3	NP_066940.2	1	2	3	2.013696	Q49AN0	CRY2_HUMAN		7	1221	+			B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	0	1	hg19	c.1199C>T	CCDS7915.2	0	.	.	.	.	.	.	.	.	.	.	C	35	5.453480	0.96223	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.33668	1.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.949;0.97;0.982	T	0.59500	-0.7443	9	0.22706	T	0.39	-11.3444	20.4777	0.99188	0.0:1.0:0.0:0.0	.	379;400;318	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	V	318;400	.	ENSP00000397419:A318V	A	+	2	0	0	CRY2	45847886	45847886	1.000000	0.71417	0.956000	0.39512	0.880000	0.50808	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GCC	0.137290		TCGA-IB-AAUS-01A-12D-A38G-08	0.642	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	0	0	1	2	2	2	2	0	0	0	0	83	83	83	83	1	2	-2.692635	1	0.130000	NM_021117		0	4	4	0	228	225	0		1	0		0	0	83	0	0	0.888060	1.774542e-01	0	0	0	35	0	4	228
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.120000	0.490000	0.200000	0.310000	0.372955	0.310000	0.270000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.004431	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>A	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.135060		TCGA-IB-AAUS-01A-12D-A38G-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	1	2	2	2	2	0	0	0	0	108	108	108	108	1	2	-3.383353	1	0.130000	NM_033360		96	6	6	7936	320	314	0	1	1	1	1	0	0	108	392	1	0.963290	5.405970e-02	9.844467e-01	2	7	15	407	6	320
TGM1	7051	broad.mit.edu	37	14	24724342	24724342	+	Missense_Mutation	SNP	G	G	A	rs143322085		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:24724342G>A	ENST00000206765.6	-	12	1886	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	588					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCCATCACCGCGTCCTGTGC	0.577																																						ENST00000206765.6	1.000000	0.160000	0.570000	0.250000	0.370000	0.430643	0.370000	0.340000																										0				24						c.(1762-1764)gCg>gTg		transglutaminase 1	L-Glutamine(DB00130)	G	VAL/ALA	0,4406		0,0,2203	94.0	77.0	83.0		1763	4.3	0.7	14	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	missense	TGM1	NM_000359.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	588/818	24724342	2,13004	2203	4300	6503	SO:0001583	missense	7051	11	121410	43				g.chr14:24724342G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1763C>T	chr14.hg19:g.24724342G>A	ENSP00000206765:p.Ala588Val	0					TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	p.A588V	NM_000359.2	NP_000350.1	1	2	3	2.005600	P22735	TGM1_HUMAN		12	1886	-			B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	0	1	hg19	c.1763C>T	CCDS9622.1	0	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253753	0.22965	0.0	2.33E-4	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.70399	-0.48;-0.48	5.18	4.28	0.50868	5.18	4.28	0.50868	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.572364	0.18241	N	0.147251	T	0.60196	0.2250	L	0.43152	1.355	0.37256	D	0.906752	B	0.11235	0.004	B	0.10450	0.005	T	0.59059	-0.7525	10	0.32370	T	0.25	-16.2109	8.7813	0.34794	0.0819:0.1506:0.7675:0.0	.	588	P22735	TGM1_HUMAN	V	588;146	ENSP00000206765:A588V;ENSP00000439446:A146V	ENSP00000206765:A588V	A	-	2	0	0	TGM1	23794182	23794182	0.226000	0.23696	0.657000	0.29651	0.111000	0.19643	2.213000	0.42844	1.402000	0.46780	0.655000	0.94253	GCG	0.135618		TCGA-IB-AAUS-01A-12D-A38G-08	0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	0	0	1	2	2	2	2	0	0	0	0	141	141	141	141	1	2	-3.097685	1	0.130000	NM_000359		0	7	7	0	310	300	0		1	0	0	0	0	141	0	0	0.978589	9.734137e-03	0	1	0	5	1	7	310
ARHGAP5	394	broad.mit.edu	37	14	32559928	32559928	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:32559928T>A	ENST00000345122.3	+	2	368	c.53T>A	c.(52-54)gTt>gAt	p.V18D	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	18					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAGTATAGTTGGACTCTCT	0.393																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3	1.000000	0.150000	0.480000	0.220000	0.320000	0.382758	0.320000	0.300000																										0				55						c.(52-54)gTt>gAt		Rho GTPase activating protein 5							95.0	93.0	93.0					14																	32559928		2203	4300	6503	SO:0001583	missense	394	0	0					g.chr14:32559928T>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.53T>A	chr14.hg19:g.32559928T>A	ENSP00000371897:p.Val18Asp	0					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D	p.V18D	NM_001030055.1	NP_001025226.1	1	2	3	2.005600	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	2	368	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	0	1	hg19	c.53T>A	CCDS32062.1	0	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770967	0.90108	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T;T	0.66280	-0.2;1.98;1.98;1.98;1.98;0.25	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.83334	-0.0011	10	0.87932	D	0	.	15.4475	0.75243	0.0:0.0:0.0:1.0	.	18;18	Q13017-2;Q13017	.;RHG05_HUMAN	D	18	ENSP00000452372:V18D;ENSP00000452222:V18D;ENSP00000441692:V18D;ENSP00000371897:V18D;ENSP00000393307:V18D;ENSP00000451579:V18D	ENSP00000371897:V18D	V	+	2	0	0	ARHGAP5	31629679	31629679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.098000	0.63641	0.528000	0.53228	GTT	0.135618		TCGA-IB-AAUS-01A-12D-A38G-08	0.393	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	0	0	1	2	2	2	2	0	0	0	0	179	179	179	178	1	2	-8.103605	1	0.130000	NM_001030055		0	9	9	0	454	449	0		1	1		0	0	179	0	0	0.994023	7.761773e-02	0	2	0	19	0	9	454
GPHB5	122876	broad.mit.edu	37	14	63784429	63784429	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:63784429G>A	ENST00000539258.1	-	0	191							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CTGGCTTCTTGGCCAGGAAAG	0.607																																						ENST00000539258.1	1.000000	0.190000	0.730000	0.300000	0.460000	0.517946	0.460000	0.400000																										0				7								glycoprotein hormone beta 5							41.0	45.0	44.0					14																	63784429		2006	4170	6176			122876	0	0					g.chr14:63784429G>A	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			chr14.hg19:g.63784429G>A		0									1	2	3	2.005600	Q86YW7	GPHB5_HUMAN		0	191	-			Q6NTD0|Q8NFW2	RNA	SNP	ENST00000539258.1	0	1	hg19			0																																																																																								0.135618		TCGA-IB-AAUS-01A-12D-A38G-08	0.607	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	0	0	1	2	2	2	2	0	0	0	0	81	81	81	80	1	2	-7.720320	1	0.130000	NM_145171		0	6	5	0	213	210	0		1			0	0	81	0	0	0.963044	0	0	0	0	0	0	6	213
ARHGAP17	55114	broad.mit.edu	37	16	24971282	24971282	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:24971282T>G	ENST00000289968.6	-	8	661	c.592A>C	c.(592-594)Atg>Ctg	p.M198L	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	198	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGTTGTACATGTCTGCTGCA	0.383																																						ENST00000289968.6	1.000000	0.110000	0.440000	0.170000	0.260000	0.356881	0.260000	0.240000																										0				30						c.(592-594)Atg>Ctg		Rho GTPase activating protein 17							117.0	116.0	116.0					16																	24971282		2197	4300	6497	SO:0001583	missense	55114	0	0					g.chr16:24971282T>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.592A>C	chr16.hg19:g.24971282T>G	ENSP00000289968:p.Met198Leu	0					ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L	p.M198L	NM_001006634.1	NP_001006635.1	1	2	3	2.025108	Q68EM7	RHG17_HUMAN		8	661	-			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	0	1	hg19	c.592A>C	CCDS32409.1	0	.	.	.	.	.	.	.	.	.	.	T	7.735	0.700058	0.15106	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.50277	0.75;0.75;0.75	5.67	5.67	0.87782	5.67	5.67	0.87782	BAR (3);	0.000000	0.52532	D	0.000072	T	0.41673	0.1169	L	0.42581	1.335	0.43632	D	0.996021	B;B;B;B	0.22080	0.015;0.064;0.008;0.064	B;B;B;B	0.24701	0.011;0.055;0.015;0.055	T	0.23084	-1.0198	10	0.25751	T	0.34	.	13.8404	0.63435	0.0:0.0:0.0:1.0	.	198;198;198;198	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	L	198	ENSP00000289968:M198L;ENSP00000303130:M198L;ENSP00000406950:M198L	ENSP00000289968:M198L	M	-	1	0	0	ARHGAP17	24878783	24878783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.153000	0.67306	0.477000	0.44152	ATG	0.139508		TCGA-IB-AAUS-01A-12D-A38G-08	0.383	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	0	0	1	2	2	2	2	0	0	0	0	182	182	182	182	1	2	-3.327657	1	0.130000	NM_018054		0	8	8	0	525	514	0		1	0		0	0	182	0	0	0.988528	1.726600e-01	0	1	0	43	0	8	525
SLC38A8	146167	broad.mit.edu	37	16	84050178	84050178	+	Missense_Mutation	SNP	C	C	T	rs149742482	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:84050178C>T	ENST00000299709.3	-	8	1107	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	370					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGACGATCTCGCTGAGGTCA	0.607																																						ENST00000299709.3	1.000000	0.440000	1.000000	0.620000	0.860000	0.828737	0.860000	1.000000																										0				26						c.(1108-1110)Gag>Aag		solute carrier family 38, member 8		C	LYS/GLU	0,4400		0,0,2200	91.0	76.0	81.0		1108	-1.1	0.5	16	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC38A8	NM_001080442.1	56	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	benign	370/436	84050178	2,12998	2200	4300	6500	SO:0001583	missense	146167	8	121412	42				g.chr16:84050178C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1108G>A	chr16.hg19:g.84050178C>T	ENSP00000299709:p.Glu370Lys	0						p.E370K	NM_001080442.1	NP_001073911.1	1	2	3	2.020629	A6NNN8	S38A8_HUMAN		8	1107	-				Missense_Mutation	SNP	ENST00000299709.3	1	1	hg19	c.1108G>A	CCDS32495.1	1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414452	0.01145	0.0	2.33E-4	ENSG00000166558	ENST00000299709	T	0.02067	4.47	4.47	-1.14	0.09741	4.47	-1.14	0.09741	.	0.554792	0.19437	N	0.114283	T	0.01092	0.0036	N	0.14661	0.345	0.36854	D	0.88807	B	0.23540	0.087	B	0.21360	0.034	T	0.49934	-0.8886	10	0.05833	T	0.94	.	5.3489	0.16024	0.0:0.4325:0.1427:0.4248	.	370	A6NNN8	S38A8_HUMAN	K	370	ENSP00000299709:E370K	ENSP00000299709:E370K	E	-	1	0	0	SLC38A8	82607679	82607679	0.135000	0.22499	0.486000	0.27416	0.168000	0.22595	0.078000	0.14761	-0.231000	0.09825	0.478000	0.44815	GAG	0.138401		TCGA-IB-AAUS-01A-12D-A38G-08	0.607	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	1	0	1	2	2	2	2	0	0	0	0	80	80	80	79	1	2	-3.030222	1	0.130000	NM_001080442		0	11	10	0	201	198	0		1			0	0	80	0	0	0.998293	0	0	0	0	0	0	11	201
MAP2K4	6416	broad.mit.edu	37	17	12043158	12043158	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:12043158T>G	ENST00000353533.5	+	10	1106	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L359R	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	348	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)|p.L348R(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATTTTAGCCTTACGAAGGAT	0.333			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000353533.5	0.690000	0.280000	0.580000	0.360000	0.460000	0.475869	0.460000	0.450000				Rec	yes			Rec	yes		17	17p11.2	17p11.2	6416	D, Mis, N	mitogen-activated protein kinase kinase 4				E	E			pancreatic, breast, colorectal		13	Whole gene deletion(10)|Unknown(2)|Substitution - Missense(1)	p.0?(10)|p.?(2)|p.L348R(1)	ovary(4)|breast(4)|biliary_tract(2)|pancreas(2)|lung(1)	100						c.(1042-1044)cTt>cGt		mitogen-activated protein kinase kinase 4							112.0	118.0	116.0					17																	12043158		2203	4300	6503	SO:0001583	missense	6416	0	0					g.chr17:12043158T>G	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1043T>G	chr17.hg19:g.12043158T>G	ENSP00000262445:p.Leu348Arg	0					MAP2K4_ENST00000415385.3_Missense_Mutation_p.L359R	p.L348R	NM_003010.2	NP_003001.1	0	1	1	1.998960	P45985	MP2K4_HUMAN		10	1106	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	1	1	hg19	c.1043T>G	CCDS11162.1	0	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507873	0.85282	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.34472	1.36;1.36	5.65	5.65	0.86999	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80596	-0.1312	10	0.87932	D	0	.	14.9931	0.71406	0.0:0.0:0.0:1.0	.	220;359;348	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	R	348;359;325;220	ENSP00000262445:L348R;ENSP00000410402:L359R	ENSP00000262445:L348R	L	+	2	0	0	MAP2K4	11983883	11983883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	CTT	0.125452		TCGA-IB-AAUS-01A-12D-A38G-08	0.333	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	0	0	1	2	2	2	2	0	0	0	0	245	245	245	242	1	2	-3.368136	1	0.130000			0	18	18	0	584	574	0		1	1	1	0	0	245	478	0	0.999979	1.750916e-01	9.997768e-01	3	9	21	437	18	584
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAGGCATGCGGCCCCTGGC	0.493																																						ENST00000360228.5	1.000000	0.100000	0.590000	0.190000	0.320000	0.405685	0.320000	0.270000																										0				42						c.(5533-5535)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)						48.0	49.0	49.0					19																	13338336		1877	4112	5989	SO:0001583	missense	773	0	0					g.chr19:13338336C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5534G>A	chr19.hg19:g.13338336C>T	ENSP00000353362:p.Arg1845His	0					CACNA1A_ENST00000573710.2_Intron|CACNA1A_ENST00000574822.1_5'Flank	p.R1845H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	1	2	3	2.017324	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	37	5533	-			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	0	1	hg19	c.5534G>A	CCDS45998.1	0	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	0	CACNA1A	13199336	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC	0.137846		TCGA-IB-AAUS-01A-12D-A38G-08	0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	0	0	1	2	2	2	2	0	0	0	0	95	95	95	93	1	2	-2.478371	0	0.130000	NM_000068		0	4	4	0	222	217	0		1			0	0	95	0	0	0.885846	0	0	0	0	0	0	4	222
PTPRS	5802	broad.mit.edu	37	19	5210482	5210482	+	Missense_Mutation	SNP	G	G	A	rs147647579		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:5210482G>A	ENST00000587303.1	-	34	5584	c.5485C>T	c.(5485-5487)Cgg>Tgg	p.R1829W	PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1830W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TCACTCACCCGGGCATCTGTG	0.562																																						ENST00000587303.1	1.000000	0.190000	0.560000	0.270000	0.370000	0.444376	0.370000	0.350000																										0				61						c.(5485-5487)Cgg>Tgg		protein tyrosine phosphatase, receptor type, S	Alendronate(DB00630)|Etidronic acid(DB01077)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	112.0	104.0	107.0		5485,4144,5371,4156	-0.2	1.0	19	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1829/1949,1382/1502,1791/1911,1386/1506	5210482	1,13005	2203	4300	6503	SO:0001583	missense	5802	1	121412	32				g.chr19:5210482G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5485C>T	chr19.hg19:g.5210482G>A	ENSP00000467537:p.Arg1829Trp	0					PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1830W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W	p.R1829W			1	2	3	2.017324	Q13332	PTPRS_HUMAN		34	5584	-			O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	1	1	hg19	c.5485C>T	CCDS45930.1	0	.	.	.	.	.	.	.	.	.	.	g	15.03	2.713599	0.48517	0.0	1.16E-4	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	2.31	-0.225	0.13111	2.31	-0.225	0.13111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.084158	0.45361	U	0.000376	T	0.37679	0.1012	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.995;1.0;1.0;0.999;0.999	P;P;D;P;D;D	0.91635	0.889;0.634;0.999;0.865;0.912;0.958	T	0.25745	-1.0123	10	0.87932	D	0	.	9.6749	0.40034	0.0:0.0:0.2921:0.7079	.	1411;1382;1386;1791;1829;1424	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	W	1424;1830;1829;1829;1820;1809;1791;1411;1386;1382	ENSP00000361489:R1830W;ENSP00000349932:R1829W;ENSP00000262963:R1809W;ENSP00000269907:R1791W;ENSP00000327313:R1382W	ENSP00000262963:R1809W	R	-	1	2	2	PTPRS	5161482	5161482	1.000000	0.71417	0.995000	0.50966	0.718000	0.41266	1.922000	0.40045	-0.096000	0.12329	0.486000	0.48141	CGG	0.137846		TCGA-IB-AAUS-01A-12D-A38G-08	0.562	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	0	0	1	2	2	2	2	0	0	0	0	191	191	191	181	1	2	-2.147304	0	0.130000			0	11	10	0	478	455	0		1	0		0	0	191	0	0	0.997821	4.831822e-01	0	0	0	68	0	11	478
VAV1	7409	broad.mit.edu	37	19	6857088	6857088	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:6857088C>T	ENST00000602142.1	+	27	2590	c.2508C>T	c.(2506-2508)taC>taT	p.Y836Y	VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000596764.1_Silent_p.Y804Y|VAV1_ENST00000539284.1_Silent_p.Y739Y|VAV1_ENST00000304076.2_Silent_p.Y814Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	836	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGCCAACTACGTGGAGGAAG	0.592																																						ENST00000602142.1	1.000000	0.160000	0.780000	0.280000	0.450000	0.515543	0.450000	0.380000																										0				62						c.(2506-2508)taC>taT		vav 1 guanine nucleotide exchange factor							197.0	141.0	160.0					19																	6857088		2203	4300	6503	SO:0001819	synonymous_variant	7409	6	121412	38				g.chr19:6857088C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2508C>T	chr19.hg19:g.6857088C>T		0					VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000539284.1_Silent_p.Y739Y|VAV1_ENST00000304076.2_Silent_p.Y814Y|VAV1_ENST00000596764.1_Silent_p.Y804Y	p.Y836Y	NM_005428.3	NP_005419.2	1	2	3	2.017324	P15498	VAV_HUMAN		27	2590	+			B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	0	1	hg19	c.2508C>T	CCDS12174.1	0																																																																																								0.137846		TCGA-IB-AAUS-01A-12D-A38G-08	0.592	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	0	0	1	2	2	2	2	0	0	0	0	76	76	76	76	1	2	-6.635919	1	0.130000			0	5	5	0	191	186	0		1	0		0	0	76	0	0	0.934047	7.226372e-01	0	1	0	94	0	5	191
C19orf45	374877	broad.mit.edu	37	19	7570440	7570440	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:7570440G>A	ENST00000361664.2	+	6	1074	c.933G>A	c.(931-933)tcG>tcA	p.S311S	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	311										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CTCCGGAGTCGCACATCCTGA	0.622																																						ENST00000361664.2	1.000000	0.130000	0.560000	0.210000	0.330000	0.411982	0.330000	0.300000																										0				8						c.(931-933)tcG>tcA		chromosome 19 open reading frame 45							48.0	53.0	51.0					19																	7570440		2203	4300	6503	SO:0001819	synonymous_variant	374877	0	0					g.chr19:7570440G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.933G>A	chr19.hg19:g.7570440G>A		0					CTD-2207O23.12_ENST00000599312.1_5'Flank	p.S311S	NM_198534.2	NP_940936.2	1	2	3	2.017324	Q8NA69	CS045_HUMAN		6	1074	+			Q8N115	Silent	SNP	ENST00000361664.2	0	1	hg19	c.933G>A	CCDS12179.2	0																																																																																								0.137846		TCGA-IB-AAUS-01A-12D-A38G-08	0.622	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	0	0	1	2	10	2	2	1	1	1	1	145	145	145	143	1	2	-2.581571	1	0.130000	NM_198534		0	6	6	0	307	304	0		0			1	0	145	0	0	0.216508	0	0	0	0	0	0	6	307
NOTCH3	4854	broad.mit.edu	37	19	15297738	15297738	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:15297738G>A	ENST00000263388.2	-	12	1977	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	634	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCCATCACGGCAGACTCCAA	0.577																																						ENST00000263388.2	1.000000	0.100000	0.580000	0.180000	0.310000	0.397179	0.310000	0.270000																										0				93						c.(1900-1902)tgC>tgT		notch 3							110.0	83.0	92.0					19																	15297738		2203	4300	6503	SO:0001819	synonymous_variant	4854	0	0					g.chr19:15297738G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1902C>T	chr19.hg19:g.15297738G>A		0						p.C634C	NM_000435.2	NP_000426.2	1	2	3	2.017324	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)	12	1977	-			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	0	1	hg19	c.1902C>T	CCDS12326.1	0																																																																																								0.137846		TCGA-IB-AAUS-01A-12D-A38G-08	0.577	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	0	0	1	2	2	2	2	0	0	0	0	87	87	87	87	1	2	-3.004226	1	0.130000	NM_000435		0	4	4	0	229	224	0		1	0		0	0	87	0	0	0.885973	6.313654e-01	0	0	0	112	0	4	229
THRAP3	9967	broad.mit.edu	37	1	36766557	36766557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:36766557G>A	ENST00000354618.5	+	10	2598	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	792	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCTACAAAGCAGAAGAGTA	0.502			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5	1.000000	0.120000	0.540000	0.200000	0.330000	0.396491	0.330000	0.300000				Dom	yes			Dom	yes		1	1p34.3	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)				M	M	USP6		aneurysmal bone cysts		0				37						c.(2374-2376)Gca>Aca		thyroid hormone receptor associated protein 3							73.0	71.0	72.0					1																	36766557		2203	4300	6503	SO:0001583	missense	9967	0	0					g.chr1:36766557G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2374G>A	chr1.hg19:g.36766557G>A	ENSP00000346634:p.Ala792Thr	0					THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	p.A792T	NM_005119.3	NP_005110.2	1	2	3	2.007902	Q9Y2W1	TR150_HUMAN		10	2598	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	0	1	hg19	c.2374G>A	CCDS405.1	0	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476580	0.84640	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15718	2.4;2.4	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.074233	0.56097	D	0.000033	T	0.34832	0.0911	L	0.51422	1.61	0.45330	D	0.998325	D	0.64830	0.994	P	0.60173	0.87	T	0.01561	-1.1324	10	0.62326	D	0.03	-4.5675	18.5314	0.90993	0.0:0.0:1.0:0.0	.	792	Q9Y2W1	TR150_HUMAN	T	792	ENSP00000346634:A792T;ENSP00000433825:A792T	ENSP00000346634:A792T	A	+	1	0	0	THRAP3	36539144	36539144	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.957000	0.87870	2.705000	0.92388	0.650000	0.86243	GCA	0.135618		TCGA-IB-AAUS-01A-12D-A38G-08	0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	0	0	1	2	2	2	2	0	0	0	0	106	106	106	105	1	2	-6.169274	1	0.130000	NM_005119		0	5	5	0	257	249	0		1	1		0	0	106	0	0	0.932913	8.446499e-01	0	8	0	167	0	5	257
CYB561D1	284613	broad.mit.edu	37	1	110038541	110038541	+	Missense_Mutation	SNP	G	G	A	rs377408419		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:110038541G>A	ENST00000420578.2	+	3	390	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000527072.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	117	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCAGGACCCGCAGTGAGCTG	0.637																																						ENST00000420578.2	1.000000	0.120000	0.490000	0.200000	0.310000	0.370288	0.310000	0.270000																										0				5						c.(349-351)cGc>cAc		cytochrome b561 family, member D1		G	HIS/ARG,HIS/ARG,,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	72.0	72.0		416,179,,,350	5.3	1.0	1		72	0,8600		0,0,4300	no	missense,missense,utr-3,utr-3,missense	CYB561D1	NM_001134400.1,NM_001134402.1,NM_001134403.1,NM_001134404.1,NM_182580.2	29,29,,,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,,probably-damaging	139/252,60/173,,,117/230	110038541	1,13005	2203	4300	6503	SO:0001583	missense	284613	1	121412	31				g.chr1:110038541G>A	AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.350G>A	chr1.hg19:g.110038541G>A	ENSP00000413530:p.Arg117His	0					CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000533024.1_3'UTR	p.R117H			1	2	3	2.004678	Q8N8Q1	C56D1_HUMAN		3	390	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	ENST00000420578.2	0	1	hg19	c.350G>A	CCDS800.1	0	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047750	0.75846	2.27E-4	0.0	ENSG00000174151	ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.35	5.35	0.76521	5.35	5.35	0.76521	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.254613	0.37623	N	0.002004	T	0.49847	0.1581	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.931;0.973;0.96;0.973	T	0.36286	-0.9754	10	0.41790	T	0.15	-13.3439	16.1086	0.81244	0.0:0.0:1.0:0.0	.	139;117;60;79	Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.;C56D1_HUMAN;.;.	H	60;117;117;139	ENSP00000377312:R60H;ENSP00000413530:R117H;ENSP00000434344:R117H;ENSP00000358884:R139H	ENSP00000358884:R139H	R	+	2	0	0	CYB561D1	109840064	109840064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.453000	0.60061	2.788000	0.95919	0.555000	0.69702	CGC	0.135060		TCGA-IB-AAUS-01A-12D-A38G-08	0.637	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	0	0	1	2	2	2	2	0	0	0	0	118	118	118	118	1	2	-2.482631	0	0.130000	NM_182580		0	6	6	0	323	318	0		1	0		0	0	118	0	0	0.963654	5.095912e-04	0	0	0	2	0	6	323
MAVS	57506	broad.mit.edu	37	20	3844906	3844906	+	Missense_Mutation	SNP	C	C	T	rs372329473		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:3844906C>T	ENST00000428216.2	+	6	757	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MAVS_ENST00000416600.2_Missense_Mutation_p.A69V|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	210					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCAGGTGCGACCTCCAGC	0.617																																						ENST00000428216.2	1.000000	0.100000	0.370000	0.150000	0.230000	0.305702	0.230000	0.210000																										0				14						c.(628-630)gCg>gTg		mitochondrial antiviral signaling protein		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	88.0	91.0	90.0		629,206	-2.5	0.0	20		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAVS	NM_020746.4,NM_001206491.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	210/541,69/400	3844906	1,13005	2203	4300	6503	SO:0001583	missense	57506	13	121406	40				g.chr20:3844906C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.629C>T	chr20.hg19:g.3844906C>T	ENSP00000401980:p.Ala210Val	0					MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A69V	p.A210V	NM_020746.4	NP_065797.2	1	2	3	2.006566	Q7Z434	MAVS_HUMAN		6	757	+			A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	0	1	hg19	c.629C>T	CCDS33437.1	0	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113443	0.08831	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.28666	1.6;2.65	3.84	-2.51	0.06365	3.84	-2.51	0.06365	.	3.330980	0.00987	N	0.003467	T	0.11024	0.0269	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15809	-1.0424	10	0.05351	T	0.99	4.4599	0.9205	0.01314	0.1672:0.3485:0.1665:0.3178	.	210	Q7Z434	MAVS_HUMAN	V	69;210	ENSP00000413749:A69V;ENSP00000401980:A210V	ENSP00000413749:A69V	A	+	2	0	0	MAVS	3792906	3792906	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.043000	0.03535	-0.435000	0.07264	0.650000	0.86243	GCG	0.135618		TCGA-IB-AAUS-01A-12D-A38G-08	0.617	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	0	0	1	2	2	2	2	0	0	0	0	196	196	196	193	1	2	-1.691675	0	0.130000	NM_020746		0	7	6	0	491	476	0		1	0		0	0	196	0	0	0.978366	3.568588e-02	0	0	0	18	0	7	491
PLCB4	5332	broad.mit.edu	37	20	9317832	9317832	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:9317832G>A	ENST00000378493.1	+	2	159	c.144G>A	c.(142-144)ctG>ctA	p.L48L	PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Silent_p.L48L|PLCB4_ENST00000278655.4_Silent_p.L48L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	48					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTTCTTTCTGACATGGAGAA	0.418																																						ENST00000378493.1	1.000000	0.130000	0.460000	0.200000	0.300000	0.365866	0.300000	0.280000																										0				87						c.(142-144)ctG>ctA		phospholipase C, beta 4							130.0	116.0	121.0					20																	9317832		2203	4300	6503	SO:0001819	synonymous_variant	5332	0	0					g.chr20:9317832G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.144G>A	chr20.hg19:g.9317832G>A		0					PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000378501.2_Silent_p.L48L|PLCB4_ENST00000278655.4_Silent_p.L48L	p.L48L			1	2	3	2.006566	Q15147	PLCB4_HUMAN		2	159	+			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	0	1	hg19	c.144G>A	CCDS13105.1	0																																																																																								0.135618		TCGA-IB-AAUS-01A-12D-A38G-08	0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2	0	0	1	2	2	2	2	0	0	0	0	161	161	161	160	1	2	-3.005239	1	0.130000			0	8	9	0	433	423	0		1	0		0	0	161	0	0	0.988584	0	0	0	0	1	0	8	433
OSBP2	23762	broad.mit.edu	37	22	31285529	31285529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:31285529G>A	ENST00000332585.6	+	7	1633	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	510					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTCAAGAGGCGAGTCCGCATT	0.597																																						ENST00000332585.6	1.000000	0.070000	0.280000	0.120000	0.180000	0.247585	0.180000	0.170000																										0				19						c.(1528-1530)cGa>cAa		oxysterol binding protein 2							128.0	142.0	137.0					22																	31285529		2117	4243	6360	SO:0001583	missense	23762	1	121162	37				g.chr22:31285529G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1529G>A	chr22.hg19:g.31285529G>A	ENSP00000332576:p.Arg510Gln	0					OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q	p.R510Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	1	2	3	2.003910	Q969R2	OSBP2_HUMAN		7	1633	+			B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	0	1	hg19	c.1529G>A	CCDS43002.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.421409|4.421409	0.83559|0.83559	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000454145;ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T	.|0.57273	.|0.46;0.46;0.98;1.0;0.52;0.44;0.41	5.03|5.03	5.03|5.03	0.67393|0.67393	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.061482	.|0.64402	.|D	.|0.000003	T|T	0.62938|0.62938	0.2469|0.2469	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.995;0.995	.|D;D;D;D;P;P	.|0.73708	.|0.979;0.981;0.954;0.981;0.691;0.691	T|T	0.66500|0.66500	-0.5908|-0.5908	5|10	.|0.72032	.|D	.|0.01	-20.1482|-20.1482	18.165|18.165	0.89722|0.89722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|252;344;252;337;509;510	.|F5H2A3;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	K|Q	172;181;182|344;337;510;509;143;144;252;54;141	.|ENSP00000384213:R344Q;ENSP00000385237:R337Q;ENSP00000332576:R510Q;ENSP00000392080:R509Q;ENSP00000385254:R143Q;ENSP00000389200:R252Q;ENSP00000438713:R54Q	.|ENSP00000332576:R510Q	E|R	+|+	1|2	0|0	0|0	OSBP2|OSBP2	29615529|29615529	29615529|29615529	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.008000|0.008000	0.06430|0.06430	9.601000|9.601000	0.98297|0.98297	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAG|CGA	0.135060		TCGA-IB-AAUS-01A-12D-A38G-08	0.597	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	0	0	1	2	2	2	2	0	0	0	0	269	269	269	265	1	2	-2.277455	0	0.130000	NM_030758		0	7	7	0	641	622	0		1	0		0	0	269	0	0	0.978398	3.384922e-03	0	0	0	7	0	7	641
TTC31	64427	broad.mit.edu	37	2	74717251	74717251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:74717251C>T	ENST00000233623.5	+	3	236	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	TTC31_ENST00000463189.1_Intron|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_Missense_Mutation_p.H77Y	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	77										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCTGTGGCACCATGGTGGGGA	0.632																																						ENST00000233623.5	1.000000	0.510000	1.000000	0.940000	0.990000	0.953771	0.990000	1.000000																										0				9						c.(229-231)Cat>Tat		tetratricopeptide repeat domain 31							20.0	23.0	22.0					2																	74717251		2041	4205	6246	SO:0001583	missense	64427	0	0					g.chr2:74717251C>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.229C>T	chr2.hg19:g.74717251C>T	ENSP00000233623:p.His77Tyr	0					TTC31_ENST00000410003.1_Missense_Mutation_p.H77Y|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000463189.1_Intron	p.H77Y	NM_022492.4	NP_071937.4	1	2	3	2.003532	Q49AM3	TTC31_HUMAN		3	236	+			Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	0	1	hg19	c.229C>T	CCDS42701.1	1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100195	0.37048	.	.	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.53206	0.63;0.63	3.9	3.01	0.34805	3.9	3.01	0.34805	.	0.446946	0.17844	N	0.160114	T	0.38427	0.1040	L	0.51422	1.61	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.46190	-0.9209	10	0.87932	D	0	.	6.6934	0.23185	0.0:0.8719:0.0:0.1281	.	77	Q49AM3	TTC31_HUMAN	Y	77	ENSP00000387213:H77Y;ENSP00000233623:H77Y	ENSP00000233623:H77Y	H	+	1	0	0	TTC31	74570759	74570759	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	2.177000	0.69029	0.561000	0.74099	CAT	0.135060		TCGA-IB-AAUS-01A-12D-A38G-08	0.632	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	0	0	1	2	2	2	2	0	0	0	0	13	13	13	13	1	2	-8.802859	1	0.130000	NM_022492		0	3	3	0	21	21	0		1	0		0	0	13	0	0	0.812925	9.194592e-01	0	0	0	37	0	3	21
CASR	846	broad.mit.edu	37	3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A	rs567996888		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:122003470G>A	ENST00000490131.1	+	7	3041	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.R900H|CASR_ENST00000296154.5_Missense_Mutation_p.R890H	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	890	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCACGCTGCGCCGCAGCAAC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18372	0.001		0.0	False		,,,				2504	0.0					ENST00000490131.1	0.990000	0.160000	0.730000	0.290000	0.480000	0.516063	0.480000	1.000000																										0				84						c.(2668-2670)cGc>cAc		calcium-sensing receptor	Cinacalcet(DB01012)						30.0	31.0	31.0					3																	122003470		2203	4300	6503	SO:0001583	missense	846	1	121386	31				g.chr3:122003470G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2669G>A	chr3.hg19:g.122003470G>A	ENSP00000418685:p.Arg890His	0					CASR_ENST00000296154.5_Missense_Mutation_p.R890H|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.R900H	p.R890H	NM_000388.3	NP_000379	0	1	1	1.987766	P41180	CASR_HUMAN		7	3041	+			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	0	1	hg19	c.2669G>A	CCDS3010.1	0	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257873	0.80246	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89485	-2.52;-2.52;-2.52	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.050341	0.85682	D	0.000000	D	0.86879	0.6039	L	0.32530	0.975	0.52501	D	0.999953	D;D	0.58620	0.983;0.983	P;P	0.45474	0.482;0.482	D	0.88288	0.2941	10	0.72032	D	0.01	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	900;890	E7ENE0;P41180	.;CASR_HUMAN	H	890;900;890	ENSP00000418685:R890H;ENSP00000420194:R900H;ENSP00000296154:R890H	ENSP00000296154:R890H	R	+	2	0	0	CASR	123486160	123486160	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.479000	0.81095	2.793000	0.96121	0.561000	0.74099	CGC	0.123161		TCGA-IB-AAUS-01A-12D-A38G-08	0.627	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	0	0	0	2	2	2	2	0	0	0	0	58	58	58	58	1	2	-6.776742	1	0.130000	NM_000388		0	4	1	0	133	131	0		0	0		0	0	58	0	0	0.882556	1.394914e-02	0	0	0	5	0	4	133
CNTN4	152330	broad.mit.edu	37	3	2777910	2777910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:2777910C>A	ENST00000397461.1	+	4	451	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M|CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	23					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGATTCCACACTGCATGGCCC	0.363																																						ENST00000397461.1	0.350000	0.110000	0.280000	0.160000	0.210000	0.225857	0.210000	0.210000																										0				61						c.(67-69)Ctg>Atg		contactin 4							174.0	167.0	169.0					3																	2777910		1850	4085	5935	SO:0001583	missense	152330	1	120812	29				g.chr3:2777910C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.67C>A	chr3.hg19:g.2777910C>A	ENSP00000380602:p.Leu23Met	0					CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M|CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M	p.L23M	NM_001206955.1	NP_001193884.1	0	1	1	1.987766	Q8IWV2	CNTN4_HUMAN		4	451	+		Ovarian(110;0.156)	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	0	1	hg19	c.67C>A	CCDS43041.1	0	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613697	0.66672	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.68903	-0.31;0.38;0.38;-0.36;0.38	6.07	6.07	0.98685	6.07	6.07	0.98685	.	0.226293	0.30003	N	0.010655	T	0.78509	0.4294	L	0.54323	1.7	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62649	0.862;0.905	T	0.74225	-0.3734	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	23;23	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	23;23;23;23;41;23	ENSP00000408594:L23M;ENSP00000396010:L23M;ENSP00000380602:L23M;ENSP00000404085:L41M;ENSP00000413642:L23M	ENSP00000380602:L23M	L	+	1	2	2	CNTN4	2752910	2752910	0.829000	0.29322	0.933000	0.37362	0.903000	0.53119	1.506000	0.35747	2.885000	0.99019	0.655000	0.94253	CTG	0.123161		TCGA-IB-AAUS-01A-12D-A38G-08	0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	0	0	1	2	2	2	2	0	0	0	0	352	352	352	349	1	2	-3.319243	1	0.130000			0	13	13	0	924	906	0		1	0		0	0	352	0	0	0.999465	2.379172e-04	0	0	0	2	0	13	924
PIK3CA	5290	broad.mit.edu	37	3	178951974	178951974	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:178951974T>C	ENST00000263967.3	+	21	3186	c.3029T>C	c.(3028-3030)aTg>aCg	p.M1010T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1010	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGCTCTGGAATGCCAGAACTA	0.383		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	0.560000	0.130000	0.440000	0.210000	0.300000	0.328905	0.300000	0.290000		57		Dom	yes			Dom	yes		3	3q26.3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""				"""E, O"""	E, O			colorectal, gastric, gliobastoma, breast		0				5269						c.(3028-3030)aTg>aCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	Caffeine(DB00201)						112.0	100.0	104.0					3																	178951974		1881	4111	5992	SO:0001583	missense	5290	0	0					g.chr3:178951974T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3029T>C	chr3.hg19:g.178951974T>C	ENSP00000263967:p.Met1010Thr	0	HNSCC(19;0.045)|TSP Lung(28;0.18)				RP11-245C23.3_ENST00000609807.1_RNA	p.M1010T	NM_006218.2	NP_006209.2	0	1	1	1.987766	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)	21	3186	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	0	1	hg19	c.3029T>C	CCDS43171.1	0	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485678	0.44147	.	.	ENSG00000121879	ENST00000263967	T	0.81247	-1.47	6.07	6.07	0.98685	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	L	0.50333	1.59	0.80722	D	1	P	0.41784	0.762	B	0.39935	0.314	T	0.81230	-0.1027	10	0.87932	D	0	-19.3218	16.635	0.85050	0.0:0.0:0.0:1.0	.	1010	P42336	PK3CA_HUMAN	T	1010	ENSP00000263967:M1010T	ENSP00000263967:M1010T	M	+	2	0	0	PIK3CA	180434668	180434668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.330000	0.79161	0.477000	0.44152	ATG	0.123161		TCGA-IB-AAUS-01A-12D-A38G-08	0.383	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2	0	0	1	2	2	2	2	0	0	0	0	131	131	131	131	1	2	-3.387560	1	0.130000			0	7	7	0	355	350	0		1	1		0	0	131	0	0	0.979874	3.436182e-01	0	2	0	54	0	7	355
TERT	7015	broad.mit.edu	37	5	1282622	1282622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:1282622G>A	ENST00000310581.5	-	3	1748	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	564					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CGTGGTCTCCGTGACATAAAA	0.532									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5	1.000000	0.120000	0.530000	0.200000	0.330000	0.390877	0.330000	0.290000																										0				41						c.(1690-1692)aCg>aTg		telomerase reverse transcriptase	Zidovudine(DB00495)						128.0	119.0	122.0					5																	1282622		2203	4300	6503	SO:0001583	missense	7015	0	0		TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	g.chr5:1282622G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1691C>T	chr5.hg19:g.1282622G>A	ENSP00000309572:p.Thr564Met	0					TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	1	2	3	2.004169	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)	3	1748	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	0	1	hg19	c.1691C>T	CCDS3861.2	0	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769850	0.49680	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	4.64	4.64	0.57946	4.64	4.64	0.57946	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.048739	0.85682	N	0.000000	D	0.97810	0.9281	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99146	1.0857	10	0.87932	D	0	-3.0526	17.5052	0.87743	0.0:0.0:1.0:0.0	.	564;564;564	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	M	564	ENSP00000309572:T564M;ENSP00000296820:T564M;ENSP00000334346:T564M;ENSP00000426042:T564M	ENSP00000296820:T564M	T	-	2	0	0	TERT	1335622	1335622	1.000000	0.71417	0.978000	0.43139	0.722000	0.41435	6.959000	0.76031	2.115000	0.64714	0.462000	0.41574	ACG	0.135060		TCGA-IB-AAUS-01A-12D-A38G-08	0.532	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	0	0	1	2	2	2	7	0	0	0	0	104	104	104	103	1	2	-5.902998	1	0.130000			0	5	5	0	257	250	0		1		1	0	2	104	1079	0	0.933592	0	9.794145e-01	0	20	0	1009	5	257
ADAMTS19	171019	broad.mit.edu	37	5	129030474	129030474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:129030474C>A	ENST00000274487.4	+	19	3007	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	954	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		GCATTGTGGACAATGAGAAAT	0.368																																						ENST00000274487.4	1.000000	0.130000	0.450000	0.200000	0.290000	0.363631	0.290000	0.270000																										0				91						c.(2860-2862)gaC>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 19							125.0	116.0	119.0					5																	129030474		2203	4300	6503	SO:0001583	missense	171019	0	0					g.chr5:129030474C>A	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.2862C>A	chr5.hg19:g.129030474C>A	ENSP00000274487:p.Asp954Glu	0					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.D954E	NM_133638.3	NP_598377.3	1	2	3	2.009138	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	19	3007	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)		Missense_Mutation	SNP	ENST00000274487.4	0	1	hg19	c.2862C>A	CCDS4146.1	0	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994870	0.35226	.	.	ENSG00000145808	ENST00000274487	T	0.61040	0.14	4.08	2.31	0.28768	4.08	2.31	0.28768	.	0.066129	0.64402	D	0.000018	T	0.36413	0.0966	N	0.16790	0.44	0.40226	D	0.977794	B	0.09022	0.002	B	0.09377	0.004	T	0.10823	-1.0613	9	.	.	.	.	10.5893	0.45300	0.0:0.8397:0.0:0.1603	.	954	Q8TE59	ATS19_HUMAN	E	954	ENSP00000274487:D954E	.	D	+	3	2	2	ADAMTS19	129058373	129058373	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.248000	0.32827	0.692000	0.31613	0.555000	0.69702	GAC	0.136176		TCGA-IB-AAUS-01A-12D-A38G-08	0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	0	1	2	2	2	2	0	0	0	0	164	164	164	163	1	2	-3.253610	1	0.130000	NM_133638		0	8	7	0	446	437	0		1			0	0	164	0	0	0.988396	0	0	0	0	0	0	8	446
PCDHAC2	56134	broad.mit.edu	37	5	140347636	140347636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140347636C>T	ENST00000289269.5	+	1	1817	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACTGGACCGAGAGCGGGT	0.572																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5	1.000000	0.110000	0.410000	0.170000	0.260000	0.334698	0.260000	0.240000																										0				45						c.(1285-1287)Cga>Tga		protocadherin alpha subfamily C, 2							87.0	90.0	89.0					5																	140347636		2203	4300	6503	SO:0001587	stop_gained	56134	0	0					g.chr5:140347636C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1285C>T	chr5.hg19:g.140347636C>T	ENSP00000289269:p.Arg429*	0					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron	p.R429*	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	1	2	3	2.009138	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1817	+			Q2M3V1|Q9Y5F4	Nonsense_Mutation	SNP	ENST00000289269.5	0	1	hg19	c.1285C>T	CCDS4242.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.700697	0.98920	.	.	ENSG00000243232	ENST00000289269	.	.	.	5.79	2.46	0.29980	5.79	2.46	0.29980	.	0.000000	0.40064	N	0.001194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4557	0.84012	0.3826:0.6174:0.0:0.0	.	.	.	.	X	429	.	ENSP00000289269:R429X	R	+	1	2	2	PCDHAC2	140327820	140327820	0.745000	0.28261	1.000000	0.80357	0.903000	0.53119	0.052000	0.14163	0.670000	0.31165	0.563000	0.77884	CGA	0.136176		TCGA-IB-AAUS-01A-12D-A38G-08	0.572	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	0	0	1	2	10	2	2	0	0	0	1	187	187	187	182	1	2	-2.512142	1	0.130000	NM_018899		0	7	7	0	444	431	0		0			0	0	187	0	0	0.289729	0	0	0	0	0	0	7	444
PCDHB11	56125	broad.mit.edu	37	5	140580809	140580809	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140580809T>C	ENST00000354757.3	+	1	1462	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAACTACTCGCTACT	0.632																																						ENST00000354757.3	1.000000	0.210000	0.490000	0.280000	0.360000	0.422749	0.360000	0.350000																										0				63						c.(1462-1464)Tac>Cac		protocadherin beta 11							136.0	135.0	135.0					5																	140580809		2203	4300	6503	SO:0001583	missense	56125	4	121412	41				g.chr5:140580809T>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1462T>C	chr5.hg19:g.140580809T>C	ENSP00000346802:p.Tyr488His	0					PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	p.Y488H	NM_018931.2	NP_061754.1	1	2	3	2.009138	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	1462	+			B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	0	1	hg19	c.1462T>C	CCDS4253.1	0	.	.	.	.	.	.	.	.	.	.	t	18.67	3.674200	0.67928	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.62941	-0.01;-0.01	2.51	2.51	0.30379	2.51	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85665	0.5749	H	0.99058	4.415	0.37148	D	0.902036	D	0.89917	1.0	D	0.97110	1.0	D	0.89861	0.4016	9	0.87932	D	0	.	10.4143	0.44311	0.0:0.0:0.0:1.0	.	488	Q9Y5F2	PCDBB_HUMAN	H	123;488	ENSP00000440344:Y123H;ENSP00000346802:Y488H	ENSP00000346802:Y488H	Y	+	1	0	0	PCDHB11	140560993	140560993	0.783000	0.28701	0.930000	0.37139	0.067000	0.16453	2.392000	0.44433	1.160000	0.42584	0.248000	0.18094	TAC	0.136176		TCGA-IB-AAUS-01A-12D-A38G-08	0.632	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	0	0	1	2	2	2	2	0	0	0	0	296	296	296	292	1	2	-13.974470	1	0.130000	NM_018931		0	18	18	0	777	760	0		1	0		0	0	296	0	0	0.999978	5.974786e-04	0	0	0	2	0	18	777
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H|DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398																																						ENST00000255189.3	1.000000	0.130000	0.620000	0.230000	0.370000	0.438009	0.370000	0.320000																										0				34						c.(1531-1533)cGc>cAc		dimethylglycine dehydrogenase							76.0	75.0	76.0					5																	78326807		2203	4300	6503	SO:0001583	missense	29958	9	121410	38				g.chr5:78326807C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1532G>A	chr5.hg19:g.78326807C>T	ENSP00000255189:p.Arg511His	0					DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	p.R511H	NM_013391.2	NP_037523.2	1	2	3	2.009138	Q9UI17	M2GD_HUMAN		10	1560	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	0	1	hg19	c.1532G>A	CCDS4044.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.357047	0.95854	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.994	D;P;P;P	0.91635	0.999;0.829;0.856;0.722	D	0.94474	0.7687	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	131;310;361;511	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	511;350;310;131;361	ENSP00000255189:R511H;ENSP00000430972:R350H;ENSP00000369667:R310H;ENSP00000439478:R131H	ENSP00000255189:R511H	R	-	2	0	0	DMGDH	78362563	78362563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.771000	0.95319	0.563000	0.77884	CGC	0.136176		TCGA-IB-AAUS-01A-12D-A38G-08	0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	0	0	1	2	10	2	2	1	1	1	1	92	92	92	91	1	2	-2.717810	1	0.130000	NM_013391		0	5	5	0	229	222	0		0	0		1	0	92	0	0	0.131583	1.409883e-02	0	0	0	7	0	5	229
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTTTTTTTCCGCCAGACCTG	0.408										TCGA Ovarian(5;0.080)																												ENST00000274545.5	1.000000	0.100000	0.380000	0.160000	0.240000	0.317301	0.240000	0.220000																										0				57						c.(250-252)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)						81.0	83.0	82.0					5																	161115979		2203	4299	6502	SO:0001583	missense	2559	4	121412	39				g.chr5:161115979C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.250C>T	chr5.hg19:g.161115979C>T	ENSP00000274545:p.Arg84Cys	0	TCGA Ovarian(5;0.080)				RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Intron	p.R84C			1	2	3	2.009138	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	4	683	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	0	1	hg19	c.250C>T	CCDS4356.1	0	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	0	GABRA6	161048557	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC	0.136176		TCGA-IB-AAUS-01A-12D-A38G-08	0.408	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2	0	0	1	2	2	2	2	0	0	0	0	190	190	190	189	1	2	-2.333423	0	0.130000			0	7	7	0	479	471	0		1			0	0	190	0	0	0.979575	0	0	0	0	0	0	7	479
GRM4	2914	broad.mit.edu	37	6	34003844	34003844	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:34003844G>A	ENST00000538487.2	-	9	2486	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000374181.4_Silent_p.F681F|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000609222.1_Silent_p.F548F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000544773.2_Silent_p.F512F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	681					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCCCTGCTCGAAGATGCGGT	0.617																																						ENST00000538487.2	0.490000	0.100000	0.370000	0.160000	0.250000	0.275360	0.250000	0.240000																										0				48						c.(2041-2043)ttC>ttT		glutamate receptor, metabotropic 4							135.0	139.0	137.0					6																	34003844		2203	4300	6503	SO:0001819	synonymous_variant	2914	4	121412	37				g.chr6:34003844G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2043C>T	chr6.hg19:g.34003844G>A		0					GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000609222.1_Silent_p.F548F|GRM4_ENST00000544773.2_Silent_p.F512F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Silent_p.F681F|GRM4_ENST00000455714.2_Silent_p.F541F	p.F681F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	0	0	0	1.985113	Q14833	GRM4_HUMAN		9	2486	-			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	0	1	hg19	c.2043C>T	CCDS4787.1	0																																																																																								0.119700		TCGA-IB-AAUS-01A-12D-A38G-08	0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	0	0	1	2	2	2	2	0	0	0	0	158	158	158	158	1	2	-2.934260	1	0.130000			0	6	6	0	371	358	0		1			0	0	158	0	0	0.961314	0	0	0	0	0	0	6	371
WTAP	9589	broad.mit.edu	37	6	160174502	160174502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:160174502A>G	ENST00000358372.4	+	7	2220	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	155					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCAAACAGGGAAAAAGTTAAT	0.428																																						ENST00000358372.4	0.620000	0.090000	0.450000	0.170000	0.290000	0.321241	0.290000	0.260000																										0				18						c.(463-465)Aaa>Gaa		Wilms tumor 1 associated protein							117.0	111.0	113.0					6																	160174502		2203	4300	6503	SO:0001583	missense	9589	0	0					g.chr6:160174502A>G	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.463A>G	chr6.hg19:g.160174502A>G	ENSP00000351141:p.Lys155Glu	0					SOD2_ENST00000546087.1_Intron	p.K155E	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	0	0	0	1.985113	Q15007	FL2D_HUMAN		7	2220	+		Breast(66;0.000776)|Ovarian(120;0.0303)	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	0	1	hg19	c.463A>G	CCDS5266.1	0	.	.	.	.	.	.	.	.	.	.	A	35	5.470230	0.96274	.	.	ENSG00000146457	ENST00000358372	T	0.51574	0.7	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.987	T	0.71272	-0.4642	10	0.51188	T	0.08	-4.8657	16.8222	0.85835	1.0:0.0:0.0:0.0	.	155;155	A8K489;Q15007	.;FL2D_HUMAN	E	155	ENSP00000351141:K155E	ENSP00000351141:K155E	K	+	1	0	0	WTAP	160094492	160094492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	2.371000	0.80710	0.533000	0.62120	AAA	0.119700		TCGA-IB-AAUS-01A-12D-A38G-08	0.428	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	0	0	1	2	11	6	2	1	1	1	1	84	84	84	84	1	2	-3.104234	1	0.130000	NM_152857		0	4	5	0	223	213	0		0	0		1	0	84	0	0	0.046801	3.499503e-02	0	4	0	87	0	4	223
COBL	23242	broad.mit.edu	37	7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:51096317G>A	ENST00000265136.7	-	10	2641	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	COBL_ENST00000395542.2_Missense_Mutation_p.R908W	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	826					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGGTTCCGGCCCTCATGG	0.622																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000265136.7	1.000000	0.140000	0.760000	0.250000	0.430000	0.492484	0.430000	0.360000																										0				65						c.(2476-2478)Cgg>Tgg		cordon-bleu WH2 repeat protein							55.0	57.0	56.0					7																	51096317		2203	4300	6503	SO:0001583	missense	23242	2	121410	38				g.chr7:51096317G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2476C>T	chr7.hg19:g.51096317G>A	ENSP00000265136:p.Arg826Trp	0					COBL_ENST00000395542.2_Missense_Mutation_p.R908W	p.R826W	NM_015198.3	NP_056013.2	1	2	3	2.013721	O75128	COBL_HUMAN		10	2641	-	Glioma(55;0.08)		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	0	1	hg19	c.2476C>T	CCDS34637.1	0	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521241	0.44866	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12774	2.66;2.66;2.65;2.65	5.2	2.41	0.29592	5.2	2.41	0.29592	.	0.935820	0.08832	N	0.887110	T	0.16428	0.0395	N	0.22421	0.69	0.09310	N	1	D;D;D;D;P	0.69078	0.997;0.997;0.996;0.979;0.924	P;P;P;B;B	0.55923	0.787;0.787;0.617;0.409;0.409	T	0.21655	-1.0239	10	0.66056	D	0.02	.	5.3882	0.16229	0.0:0.6034:0.1544:0.2423	.	826;883;826;908;368	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	W	826;718;711;908	ENSP00000265136:R826W;ENSP00000401204:R718W;ENSP00000413498:R711W;ENSP00000378912:R908W	ENSP00000265136:R826W	R	-	1	2	2	COBL	51063811	51063811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.260000	0.18424	0.205000	0.20568	-0.344000	0.07964	CGG	0.137290		TCGA-IB-AAUS-01A-12D-A38G-08	0.622	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	0	1	2	9	2	2	0	0	0	1	93	93	93	90	1	2	-3.073756	1	0.130000	NM_015198		0	4	4	0	166	164	0		0	0		0	0	93	0	0	0.121998	2.380090e-02	0	0	0	8	0	4	166
AKAP9	10142	broad.mit.edu	37	7	91714155	91714155	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:91714155G>A	ENST00000359028.2	+	35	8970	c.8745G>A	c.(8743-8745)caG>caA	p.Q2915Q	AKAP9_ENST00000356239.3_Silent_p.Q2911Q|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2915					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTGGGGTCAGGGAATTTATC	0.348			T	BRAF	papillary thyroid																																	ENST00000359028.2	1.000000	0.180000	0.480000	0.240000	0.330000	0.406183	0.330000	0.320000				Dom	yes			Dom	yes		7	7q21-q22	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9				E	E	BRAF		papillary thyroid		0				155						c.(8743-8745)caG>caA		A kinase (PRKA) anchor protein 9							107.0	111.0	110.0					7																	91714155		2203	4300	6503	SO:0001819	synonymous_variant	10142	0	0					g.chr7:91714155G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8745G>A	chr7.hg19:g.91714155G>A		0					AKAP9_ENST00000356239.3_Silent_p.Q2911Q|AKAP9_ENST00000358100.2_Intron	p.Q2915Q			1	2	3	2.013721	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)	35	8970	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	1	1	hg19	c.8745G>A		0	.	.	.	.	.	.	.	.	.	.	G	8.390	0.839502	0.16891	.	.	ENSG00000127914	ENST00000435423	.	.	.	4.77	0.0786	0.14413	4.77	0.0786	0.14413	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	.	0.8096	0.01091	0.436:0.1721:0.2181:0.1738	.	.	.	.	K	56	.	.	R	+	2	0	0	AKAP9	91552091	91552091	0.986000	0.35501	0.999000	0.59377	0.989000	0.77384	0.048000	0.14078	0.155000	0.19261	0.561000	0.74099	AGG	0.137290		TCGA-IB-AAUS-01A-12D-A38G-08	0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	207	207	207	202	1	2	-2.174796	0	0.130000	NM_005751		0	13	12	0	623	613	0		1	1		0	0	207	0	0	0.999491	9.921652e-02	0	6	0	18	0	13	623
TRRAP	8295	broad.mit.edu	37	7	98573795	98573795	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:98573795C>T	ENST00000359863.4	+	53	8051	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F	TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2614					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGCGCTTTCGTTCAGCTGT	0.567																																						ENST00000359863.4	1.000000	0.300000	0.780000	0.400000	0.540000	0.592379	0.540000	0.510000																										0				176						c.(7840-7842)ttC>ttT		transformation/transcription domain-associated protein							113.0	100.0	104.0					7																	98573795		2203	4300	6503	SO:0001819	synonymous_variant	8295	3	121412	38				g.chr7:98573795C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7842C>T	chr7.hg19:g.98573795C>T		0					TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	p.F2614F	NM_001244580.1	NP_001231509.1	1	2	3	2.013721	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)	53	8051	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	1	1	hg19	c.7842C>T	CCDS59066.1	0	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287598	0.23478	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.06	0.591	0.17465	6.06	0.591	0.17465	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50508	-0.8820	4	.	.	.	.	9.9707	0.41752	0.0:0.372:0.0:0.628	.	.	.	.	L	2336	.	.	S	+	2	0	0	TRRAP	98411731	98411731	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	0.961000	0.29267	-0.129000	0.11620	-0.345000	0.07892	TCG	0.137290		TCGA-IB-AAUS-01A-12D-A38G-08	0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	0	0	1	2	2	2	2	0	0	0	0	140	140	140	140	1	2	-3.369585	1	0.130000	NM_003496		0	13	12	0	377	373	1		1	1		0	0	140	0	0	0.999512	2.515651e-01	0	5	0	22	0	13	377
OR6B1	135946	broad.mit.edu	37	7	143701160	143701160	+	Missense_Mutation	SNP	G	G	A	rs375787820		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:143701160G>A	ENST00000408922.2	+	1	139	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGAGTATGCGGGCAGCCATG	0.502																																						ENST00000408922.2	1.000000	0.170000	0.570000	0.260000	0.370000	0.439595	0.370000	0.340000																										0				27						c.(70-72)cGg>cAg		olfactory receptor, family 6, subfamily B, member 1		G	GLN/ARG	1,3975		0,1,1987	113.0	106.0	108.0		71	1.5	0.1	7		108	0,8356		0,0,4178	no	missense	OR6B1	NM_001005281.1	43	0,1,6165	AA,AG,GG		0.0,0.0252,0.0081	benign	24/312	143701160	1,12331	1988	4178	6166	SO:0001583	missense	135946	2	120952	32				g.chr7:143701160G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.71G>A	chr7.hg19:g.143701160G>A	ENSP00000386151:p.Arg24Gln	0						p.R24Q	NM_001005281.1	NP_001005281.1	1	2	3	2.013721	O95007	OR6B1_HUMAN		1	139	+	Melanoma(164;0.0783)		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	1	1	hg19	c.71G>A	CCDS43667.1	0	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.774575	0.00640	2.52E-4	0.0	ENSG00000221813	ENST00000408922	T	0.00211	8.54	5.37	1.53	0.23141	5.37	1.53	0.23141	.	0.295013	0.17555	U	0.170002	T	0.00039	0.0001	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.02654	T	1	.	7.8985	0.29721	0.4139:0.0:0.5861:0.0	.	24	O95007	OR6B1_HUMAN	Q	24	ENSP00000386151:R24Q	ENSP00000386151:R24Q	R	+	2	0	0	OR6B1	143332093	143332093	0.146000	0.22672	0.124000	0.21820	0.227000	0.25037	2.922000	0.48860	0.404000	0.25506	-0.252000	0.11476	CGG	0.137290		TCGA-IB-AAUS-01A-12D-A38G-08	0.502	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1	0	0	1	2	2	2	2	0	0	0	0	164	164	164	163	1	2	-2.593777	1	0.130000			0	9	9	0	397	392	0		1			0	0	164	0	0	0.994007	0	0	0	0	0	0	9	397
SEC16A	9919	broad.mit.edu	37	9	139370989	139370989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:139370989G>A	ENST00000371706.3	-	1	578	c.545C>T	c.(544-546)gCc>gTc	p.A182V	SEC16A_ENST00000313050.7_Missense_Mutation_p.A360V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	182					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTCTAGCGGGGCACAGCCAGA	0.607																																						ENST00000371706.3	1.000000	0.190000	0.860000	0.350000	0.570000	0.601576	0.570000	1.000000																										0				51						c.(544-546)gCc>gTc		SEC16 homolog A (S. cerevisiae)							16.0	17.0	17.0					9																	139370989		1849	4098	5947	SO:0001583	missense	9919	0	0					g.chr9:139370989G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.545C>T	chr9.hg19:g.139370989G>A	ENSP00000360771:p.Ala182Val	0					SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V|SEC16A_ENST00000313050.7_Missense_Mutation_p.A360V	p.A182V			0	1	1	1.988230	O15027	SC16A_HUMAN		1	578	-		Myeloproliferative disorder(178;0.0511)	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	0	1	hg19	c.545C>T		0	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574576	0.28092	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.89;1.86;1.86;1.87	4.78	-1.84	0.07809	4.78	-1.84	0.07809	.	1.706090	0.03038	N	0.153015	T	0.08846	0.0219	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.08055	0.001;0.003;0.003	T	0.21999	-1.0229	10	0.23302	T	0.38	.	5.9374	0.19173	0.5872:0.1539:0.2589:0.0	.	360;182;182	F1T0I1;O15027-5;O15027-4	.;.;.	V	360;182;182;182	ENSP00000325827:A360V;ENSP00000360771:A182V;ENSP00000290037:A182V;ENSP00000387583:A182V	ENSP00000290037:A182V	A	-	2	0	0	SEC16A	138490810	138490810	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	1.309000	0.33539	-0.036000	0.13669	-0.812000	0.03155	GCC	0.123161		TCGA-IB-AAUS-01A-12D-A38G-08	0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	0	1	2	10	4	2	1	1	1	1	48	48	48	48	1	2	-7.159249	1	0.130000	XM_088459		0	4	4	0	110	109	0		0	0		1	0	48	0	0	0.075485	2.580170e-02	0	0	0	23	0	4	110
BCOR	54880	broad.mit.edu	37	X	39934135	39934135	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:39934135A>G	ENST00000378444.4	-	4	692	c.464T>C	c.(463-465)aTa>aCa	p.I155T	BCOR_ENST00000378455.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T|BCOR_ENST00000342274.4_Missense_Mutation_p.I155T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	155					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACTTTTTTGTATTCCAGGCGG	0.517			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000378444.4	0.490000	0.130000	0.380000	0.190000	0.280000	0.296531	0.280000	0.270000				Rec	yes			Rec	yes		X	Xp11.4	Xp11.4	54880	F, N, S, T	BCL6 corepressor	yes	yes	oculo-facio-cardio-dental genetic			RARA		retinoblastoma, AML, APL(translocation)		0				126						c.(463-465)aTa>aCa		BCL6 corepressor							58.0	58.0	58.0					X																	39934135		2202	4300	6502	SO:0001583	missense	54880	0	0					g.chrX:39934135A>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.464T>C	chrX.hg19:g.39934135A>G	ENSP00000367705:p.Ile155Thr						BCOR_ENST00000342274.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T|BCOR_ENST00000378455.4_Missense_Mutation_p.I155T	p.I155T	NM_001123385.1	NP_001116857.1	0	1	1		Q6W2J9	BCOR_HUMAN		4	692	-			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	0	1	hg19	c.464T>C	CCDS48093.1	0	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242244	0.58995	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.47	5.47	0.80525	5.47	5.47	0.80525	.	.	.	.	.	T	0.75671	0.3881	L	0.27053	0.805	0.45930	D	0.998761	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.81914	0.995;0.995;0.989;0.995	T	0.79222	-0.1892	9	0.87932	D	0	-16.4292	14.5759	0.68246	1.0:0.0:0.0:0.0	.	155;155;155;155	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	155	ENSP00000367716:I155T;ENSP00000380512:I155T;ENSP00000367705:I155T;ENSP00000345923:I155T;ENSP00000384485:I155T	ENSP00000345923:I155T	I	-	2	0	0	BCOR	39819079	39819079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	1.822000	0.53115	0.486000	0.48141	ATA	0.130000		TCGA-IB-AAUS-01A-12D-A38G-08	0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	0	0	1	2	2	2	2	0	0	0	0	182	182	182	182	1	2	-7.998889	1	0.130000	NM_017745		0	9	9	0	501	485	0		1	0		0	0	182	0	0	0.993406	1.352415e-02	0	0	0	9	0	9	501
