#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
C1orf177	163747	broad.mit.edu	37	1	55280638	55280638	+	Missense_Mutation	SNP	G	G	A	rs201728919		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:55280638G>A	ENST00000371273.3	+	8	991	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	C1orf177_ENST00000358193.3_Missense_Mutation_p.V326I	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	326										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATGCAAACCCGTCAACCAGCC	0.552																																						uc001cyb.3																			0					0						c.(976-978)GTC>ATC		hypothetical protein LOC163747 isoform 2		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	114.0	115.0	114.0		976,976	-0.4	0.0	1		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C1orf177	NM_152607.2,NM_001110533.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	326/415,326/419	55280638	1,13005	2203	4300	6503	SO:0001583	missense	163747							g.chr1:55280638G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.976G>A	1.37:g.55280638G>A	ENSP00000360320:p.Val326Ile					C1orf177_uc001cya.3_Missense_Mutation_p.V326I	p.V326I	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN			8	1030	+			326					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.976G>A	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	5.731	0.319377	0.10845	0.0	1.16E-4	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.20881	2.04;2.04	4.75	-0.448	0.12230	.	1.447220	0.04009	N	0.297848	T	0.14830	0.0358	L	0.27053	0.805	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.12156	0.007;0.007	T	0.28839	-1.0031	10	0.21014	T	0.42	-4.9118	7.5365	0.27712	0.4894:0.0:0.5106:0.0	.	326;326	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	I	326	ENSP00000350924:V326I;ENSP00000360320:V326I	ENSP00000350924:V326I	V	+	1	0	C1orf177	55053226	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.014000	0.13333	-0.158000	0.11040	-0.471000	0.05019	GTC		0.552	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
FCRL4	83417	broad.mit.edu	37	1	157551332	157551332	+	Missense_Mutation	SNP	C	C	T	rs150354637		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:157551332C>T	ENST00000271532.1	-	7	1373	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	413					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACTTCCTCCGACGCCAGCA	0.602																																						uc001fqw.2																			0				ovary(2)|kidney(1)|skin(1)	4						c.(1237-1239)CGG>CAG		Fc receptor-like 4 precursor		T	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	73.0	63.0	66.0		1238	-7.3	0.0	1	dbSNP_134	66	0,8600		0,0,4300	yes	missense	FCRL4	NM_031282.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	413/516	157551332	3,13003	2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551332C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1238G>A	1.37:g.157551332C>T	ENSP00000271532:p.Arg413Gln					FCRL4_uc010phy.1_RNA	p.R413Q	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			7	1374	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	413			Cytoplasmic (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1238G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	4.274	0.050051	0.08243	6.81E-4	0.0	ENSG00000163518	ENST00000271532	T	0.20200	2.09	4.63	-7.34	0.01427	.	1.046640	0.07659	N	0.933255	T	0.01353	0.0044	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45469	-0.9259	10	0.09084	T	0.74	.	8.6377	0.33959	0.0:0.2257:0.1126:0.6617	.	413	Q96PJ5	FCRL4_HUMAN	Q	413	ENSP00000271532:R413Q	ENSP00000271532:R413Q	R	-	2	0	FCRL4	155817956	0.000000	0.05858	0.000000	0.03702	0.521000	0.34408	-1.342000	0.02645	-1.483000	0.01858	-1.688000	0.00730	CGG		0.602	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	
PAPPA2	60676	broad.mit.edu	37	1	176661413	176661413	+	Silent	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:176661413T>C	ENST00000367662.3	+	6	3747	c.2583T>C	c.(2581-2583)acT>acC	p.T861T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	861					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTCCCTCACTATCCACTGGC	0.502																																						uc001gkz.2																			0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2581-2583)ACT>ACC		pappalysin 2 isoform 1							132.0	140.0	138.0					1																	176661413		2085	4228	6313	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661413T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2583T>C	1.37:g.176661413T>C						PAPPA2_uc009www.2_RNA	p.T861T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			6	3747	+			861					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2583T>C	CCDS41438.1																																																																																				0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
RAB3GAP2	25782	broad.mit.edu	37	1	220335581	220335581	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:220335581A>C	ENST00000358951.2	-	28	3300	c.3184T>G	c.(3184-3186)Tta>Gta	p.L1062V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1062					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTTTAACTAAGAACGTATTC	0.284																																						uc010puk.1																			0				central_nervous_system(1)	1						c.(3184-3186)TTA>GTA		rab3 GTPase-activating protein, non-catalytic							124.0	121.0	122.0					1																	220335581		2203	4293	6496	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220335581A>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3184T>G	1.37:g.220335581A>C	ENSP00000351832:p.Leu1062Val					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L642V|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.L6V	p.L1062V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	28	3348	-			1062					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3184T>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715107	0.48622	.	.	ENSG00000118873	ENST00000358951	T	0.47869	0.83	5.58	-3.45	0.04781	.	0.052373	0.64402	D	0.000001	T	0.23289	0.0563	L	0.27053	0.805	0.35460	D	0.79644	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.007	T	0.01966	-1.1238	10	0.31617	T	0.26	.	1.8768	0.03219	0.3879:0.0867:0.3179:0.2074	.	1062;1062	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1062	ENSP00000351832:L1062V	ENSP00000351832:L1062V	L	-	1	2	RAB3GAP2	218402204	1.000000	0.71417	0.388000	0.26195	0.993000	0.82548	0.898000	0.28404	-0.435000	0.07264	0.482000	0.46254	TTA		0.284	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
ARMC3	219681	broad.mit.edu	37	10	23297794	23297794	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:23297794A>G	ENST00000298032.5	+	16	2063	c.1979A>G	c.(1978-1980)aAa>aGa	p.K660R	ARMC3_ENST00000409049.3_Missense_Mutation_p.K660R|ARMC3_ENST00000409983.3_Missense_Mutation_p.K653R|ARMC3_ENST00000376528.4_Missense_Mutation_p.K397R	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	660						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAGAAGACAAATCAGAGCCA	0.383																																						uc001irm.3																			0					0						c.(1978-1980)AAA>AGA		armadillo repeat containing 3							60.0	57.0	58.0					10																	23297794		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23297794A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1979A>G	10.37:g.23297794A>G	ENSP00000298032:p.Lys660Arg					ARMC3_uc010qcv.1_Missense_Mutation_p.K653R|ARMC3_uc010qcw.1_Missense_Mutation_p.K397R	p.K660R	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			16	2062	+			660					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1979A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	a	15.03	2.711639	0.48517	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	T;T;T;T	0.45276	0.94;1.05;0.9;2.15	5.51	4.38	0.52667	.	0.461817	0.23155	N	0.051307	T	0.50463	0.1617	L	0.36672	1.1	0.42109	D	0.991377	D;D	0.69078	0.995;0.997	P;D	0.75020	0.889;0.985	T	0.44742	-0.9308	10	0.42905	T	0.14	-0.465	9.7154	0.40272	0.9205:0.0:0.0795:0.0	.	653;660	Q5W041-4;Q5W041	.;ARMC3_HUMAN	R	660;653;660;397	ENSP00000298032:K660R;ENSP00000386943:K653R;ENSP00000387288:K660R;ENSP00000365711:K397R	ENSP00000298032:K660R	K	+	2	0	ARMC3	23337800	0.983000	0.35010	0.679000	0.29978	0.570000	0.35934	2.746000	0.47467	0.929000	0.37192	0.367000	0.22151	AAA		0.383	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
PTEN	5728	broad.mit.edu	37	10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	rs121913294		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:89711900G>A	ENST00000371953.3	+	6	1875	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173H(23)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R173P(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R173H(RL952_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		80	Whole gene deletion(37)|Substitution - Missense(24)|Deletion - Frameshift(11)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.R173C(32)|p.R173H(22)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R173P(1)|p.R172fs*5(1)	central_nervous_system(32)|prostate(17)|skin(8)|endometrium(5)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|testis(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM074465	PTEN	M	rs121913294	c.(517-519)CGC>CAC		phosphatase and tensin homolog							129.0	132.0	131.0					10																	89711900		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711900G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.518G>A	10.37:g.89711900G>A	ENSP00000361021:p.Arg173His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R173H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1549	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.518G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478054	0.96291	.	.	ENSG00000171862	ENST00000371953	D	0.98889	-5.21	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99162	0.9710	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.99533	1.0961	9	.	.	.	0.9169	19.9308	0.97118	0.0:0.0:1.0:0.0	.	173	P60484	PTEN_HUMAN	H	173	ENSP00000361021:R173H	.	R	+	2	0	PTEN	89701880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ST5	6764	broad.mit.edu	37	11	8752166	8752166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:8752166delC	ENST00000534127.1	-	6	1056	c.671delG	c.(670-672)ggcfs	p.G224fs	ST5_ENST00000357665.1_Frame_Shift_Del_p.G224fs|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Frame_Shift_Del_p.G224fs|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	224					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTCCGGAGGCCCTTGAAATC	0.642																																						uc001mgt.2																			0				upper_aerodigestive_tract(1)	1						c.(670-672)GGCfs		suppression of tumorigenicity 5 isoform 1							21.0	24.0	23.0					11																	8752166		2196	4292	6488	SO:0001589	frameshift_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752166delC	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.671delG	11.37:g.8752166delC	ENSP00000433528:p.Gly224fs					ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Frame_Shift_Del_p.G224fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.G224fs	p.G224fs	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	3	857	-			224					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Frame_Shift_Del	DEL	ENST00000534127.1	37	c.671delG	CCDS7791.1																																																																																				0.642	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
OR8J3	81168	broad.mit.edu	37	11	55904404	55904404	+	Missense_Mutation	SNP	G	G	C	rs143365733	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:55904404G>C	ENST00000301529.1	-	1	790	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGAGTGGTTGGTTTGGGGCTG	0.428																																						uc010riz.1																			0				skin(2)	2						c.(790-792)ACC>AGC		olfactory receptor, family 8, subfamily J,							136.0	133.0	134.0					11																	55904404		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904404G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.791C>G	11.37:g.55904404G>C	ENSP00000301529:p.Thr264Ser						p.T264S	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	791	-	Esophageal squamous(21;0.00693)		264			Extracellular (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.791C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.647484	0.00111	.	.	ENSG00000167822	ENST00000301529	T	0.00018	9.08	3.27	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.804728	0.11386	N	0.569305	T	0.00039	0.0001	N	0.00079	-2.23	0.09310	N	1	B	0.06786	0.001	B	0.20955	0.032	T	0.18555	-1.0333	10	0.02654	T	1	.	11.1359	0.48375	0.0:0.3613:0.6387:0.0	.	264	Q8NGG0	OR8J3_HUMAN	S	264	ENSP00000301529:T264S	ENSP00000301529:T264S	T	-	2	0	OR8J3	55660980	0.001000	0.12720	0.046000	0.18839	0.253000	0.25986	0.997000	0.29731	0.476000	0.27440	0.297000	0.19635	ACC		0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064	
CAPN1	823	broad.mit.edu	37	11	64981482	64981482	+	IGR	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:64981482C>A	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGCCGCTGTCCCCCCCCACCA	0.692																																						uc010roc.1																			0				central_nervous_system(1)	1						c.(133-135)CCC>ACC		solute carrier family 22, member 20							10.0	15.0	13.0					11																	64981482		1934	4121	6055	SO:0001628	intergenic_variant	440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981482C>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981482C>A						SLC22A20_uc010rob.1_Missense_Mutation_p.P45T	p.P45T	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN			1	136	+			45			Extracellular (Potential).		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	ENST00000527323.1	37	c.133C>A	CCDS44644.1																																																																																				0.692	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		
TIGD3	220359	broad.mit.edu	37	11	65124539	65124539	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:65124539C>G	ENST00000309880.5	+	2	1467	c.1260C>G	c.(1258-1260)gaC>gaG	p.D420E		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	420						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGAAGGGGGACAGAGAGGGTG	0.587																																						uc001odo.3																			0					0						c.(1258-1260)GAC>GAG		tigger transposable element derived 3							106.0	99.0	101.0					11																	65124539		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124539C>G		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1260C>G	11.37:g.65124539C>G	ENSP00000308354:p.Asp420Glu						p.D420E	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	1423	+			420						Missense_Mutation	SNP	ENST00000309880.5	37	c.1260C>G	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.228478	0.00280	.	.	ENSG00000173825	ENST00000309880	T	0.17054	2.3	3.46	-4.32	0.03688	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42189	-0.9466	9	0.09843	T	0.71	8.1597	5.4377	0.16490	0.0:0.3358:0.149:0.5151	.	420	Q6B0B8	TIGD3_HUMAN	E	420	ENSP00000308354:D420E	ENSP00000308354:D420E	D	+	3	2	TIGD3	64881115	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.676000	0.01946	-1.151000	0.02836	-0.518000	0.04402	GAC		0.587	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719	
ITGB7	3695	broad.mit.edu	37	12	53590514	53590514	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr12:53590514C>T	ENST00000267082.5	-	6	896	c.665G>A	c.(664-666)cGc>cAc	p.R222H	ITGB7_ENST00000550743.2_Missense_Mutation_p.R222H|ITGB7_ENST00000338737.4_Missense_Mutation_p.R222H|ITGB7_ENST00000422257.3_Missense_Mutation_p.R222H	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	222	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGACTGGCAGCGCTCCAGCCG	0.622																																						uc009zmv.2																			0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						c.(664-666)CGC>CAC		integrin, beta 7 precursor							46.0	43.0	44.0					12																	53590514		2203	4299	6502	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53590514C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.665G>A	12.37:g.53590514C>T	ENSP00000267082:p.Arg222His					ITGB7_uc001scc.2_Missense_Mutation_p.R222H|ITGB7_uc010snz.1_RNA|ITGB7_uc010soa.1_3'UTR	p.R222H	NM_000889	NP_000880	P26010	ITB7_HUMAN			5	736	-			222			VWFA.|Extracellular (Potential).		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.665G>A	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722246	0.68959	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.05	0.267	0.15622	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.727821	0.11364	N	0.571582	D	0.87470	0.6185	L	0.43152	1.355	0.27730	N	0.944826	P	0.44344	0.833	B	0.42112	0.376	T	0.78889	-0.2026	10	0.48119	T	0.1	.	7.3084	0.26461	0.0:0.3515:0.4928:0.1557	.	222	P26010	ITB7_HUMAN	H	222	ENSP00000408741:R222H;ENSP00000267082:R222H;ENSP00000345501:R222H;ENSP00000437375:R222H	ENSP00000267082:R222H	R	-	2	0	ITGB7	51876781	0.156000	0.22821	0.999000	0.59377	0.977000	0.68977	0.254000	0.18314	0.209000	0.20645	0.555000	0.69702	CGC		0.622	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
LHFP	10186	broad.mit.edu	37	13	40175282	40175282	+	Silent	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr13:40175282G>A	ENST00000379589.3	-	2	534	c.72C>T	c.(70-72)tgC>tgT	p.C24C	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	24						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGAACCCCACGCAGGAGGTGG	0.537			T	HMGA2	lipoma																																	uc001uxf.2				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(70-72)TGC>TGT		lipoma HMGIC fusion partner precursor							86.0	81.0	82.0					13																	40175282		2203	4300	6503	SO:0001819	synonymous_variant	10186					integral to membrane	DNA binding	g.chr13:40175282G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.72C>T	13.37:g.40175282G>A							p.C24C	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	583	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	24					B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	c.72C>T	CCDS9369.1																																																																																				0.537	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780	
C14orf182	283551	broad.mit.edu	37	14	50472507	50472507	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:50472507C>T	ENST00000399206.1	-	1	1731	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	4										large_intestine(2)|urinary_tract(1)	3						GGTTGCCATCCGACCTGTCAT	0.507																																						uc001wxi.1																			0					0						c.(10-12)CGG>CAG		hypothetical protein LOC283551							196.0	194.0	195.0					14																	50472507		1962	4148	6110	SO:0001583	missense	283551							g.chr14:50472507C>T	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.11G>A	14.37:g.50472507C>T	ENSP00000382157:p.Arg4Gln						p.R4Q	NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN			1	1732	-			4					A8MYX4	Missense_Mutation	SNP	ENST00000399206.1	37	c.11G>A	CCDS41949.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746397	0.15710	.	.	ENSG00000214900	ENST00000399206	T	0.59502	0.26	3.58	-7.17	0.01511	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.09310	N	1	B	0.23058	0.079	B	0.17098	0.017	T	0.16689	-1.0394	8	0.32370	T	0.25	.	6.0971	0.20027	0.2749:0.3825:0.3426:0.0	.	4	A1A4T8-2	.	Q	4	ENSP00000382157:R4Q	ENSP00000382157:R4Q	R	-	2	0	C14orf182	49542257	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.386000	0.07370	-1.428000	0.01989	-1.405000	0.01134	CGG		0.507	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706	
TDRD9	122402	broad.mit.edu	37	14	104493271	104493271	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:104493271T>C	ENST00000409874.4	+	28	3325	c.3277T>C	c.(3277-3279)Tcc>Ccc	p.S1093P	TDRD9_ENST00000339063.5_Missense_Mutation_p.S1093P	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1093					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCCTACGAGTCCAAGGTGTG	0.582																																						uc001yom.3																			0				ovary(2)|central_nervous_system(1)	3						c.(3277-3279)TCC>CCC		tudor domain containing 9							75.0	57.0	63.0					14																	104493271		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104493271T>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.3277T>C	14.37:g.104493271T>C	ENSP00000387303:p.Ser1093Pro					TDRD9_uc001yon.3_Missense_Mutation_p.S831P	p.S1093P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			28	3307	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	1093					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.3277T>C	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.63|16.63	3.176738|3.176738	0.57692|0.57692	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	T;T|.	0.04917|.	3.53;3.72|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.56097|.	D|.	0.000021|.	T|T	0.76926|0.76926	0.4056|0.4056	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.78897|0.78897	-0.2023|-0.2023	10|5	0.87932|.	D|.	0|.	.|.	15.4208|15.4208	0.75009|0.75009	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1093;1093|.	Q8NDG6-2;Q8NDG6|.	.;TDRD9_HUMAN|.	P|A	1093|819	ENSP00000387303:S1093P;ENSP00000343545:S1093P|.	ENSP00000343545:S1093P|.	S|V	+|+	1|2	0|0	TDRD9|TDRD9	103563024|103563024	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.081000|0.081000	0.17604|0.17604	6.215000|6.215000	0.72206|0.72206	2.028000|2.028000	0.59812|0.59812	0.379000|0.379000	0.24179|0.24179	TCC|GTC		0.582	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
PLCB2	5330	broad.mit.edu	37	15	40596215	40596215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:40596215G>A	ENST00000260402.3	-	2	398	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T50M|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Missense_Mutation_p.T50M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T50M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	50					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTTTGATACGTCCAGTATAA	0.527																																						uc001zld.2																			0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(148-150)ACG>ATG		phospholipase C, beta 2							82.0	86.0	85.0					15																	40596215		2020	4166	6186	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40596215G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.149C>T	15.37:g.40596215G>A	ENSP00000260402:p.Thr50Met					PLCB2_uc010bbo.2_Missense_Mutation_p.T50M|PLCB2_uc010ucm.1_Missense_Mutation_p.T50M|PLCB2_uc001zle.3_Missense_Mutation_p.T50M	p.T50M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	2	450	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	50					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.149C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841379	0.51057	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.46819	0.86;0.86;0.86	4.43	4.43	0.53597	.	0.297680	0.19776	U	0.106330	T	0.43875	0.1267	L	0.33792	1.035	0.38498	D	0.948141	D;D;D;P	0.59767	0.961;0.977;0.986;0.941	P;P;B;P	0.46362	0.464;0.474;0.443;0.514	T	0.51450	-0.8704	10	0.49607	T	0.09	.	15.9676	0.79985	0.0:0.0:1.0:0.0	.	50;50;50;50	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	M	50	ENSP00000260402:T50M;ENSP00000411991:T50M;ENSP00000444652:T50M	ENSP00000260402:T50M	T	-	2	0	PLCB2	38383507	1.000000	0.71417	0.998000	0.56505	0.648000	0.38561	4.918000	0.63376	2.164000	0.68074	0.655000	0.94253	ACG		0.527	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
RPAP1	26015	broad.mit.edu	37	15	41810014	41810014	+	Silent	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:41810014T>C	ENST00000304330.4	-	24	4130	c.4014A>G	c.(4012-4014)acA>acG	p.T1338T	RPAP1_ENST00000561603.1_Missense_Mutation_p.H1086R	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1338						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGCAGCCATGTTTTCTGCA	0.562																																						uc001zod.2																			0				large_intestine(1)	1						c.(4012-4014)ACA>ACG		RNA polymerase II associated protein 1							243.0	242.0	242.0					15																	41810014		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41810014T>C	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.4014A>G	15.37:g.41810014T>C						RPAP1_uc001zoc.2_Silent_p.T357T	p.T1338T	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	24	4138	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1338					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.4014A>G	CCDS10079.1																																																																																				0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	
ABCC1	4363	broad.mit.edu	37	16	16225756	16225756	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:16225756C>T	ENST00000399410.3	+	27	4105	c.3930C>T	c.(3928-3930)ctC>ctT	p.L1310L	ABCC1_ENST00000399408.2_Silent_p.L1320L|ABCC1_ENST00000349029.5_Silent_p.L1195L|ABCC1_ENST00000345148.5_Silent_p.L1310L|ABCC1_ENST00000346370.5_Silent_p.L1254L|ABCC1_ENST00000351154.5_Silent_p.L1251L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1310	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACTTCGTTCTCAGGCACATCA	0.607																																						uc010bvi.2																			0				ovary(4)	4						c.(3928-3930)CTC>CTT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						76.0	75.0	75.0					16																	16225756		2055	4213	6268	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16225756C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3930C>T	16.37:g.16225756C>T						ABCC1_uc010bvj.2_Silent_p.L1251L|ABCC1_uc010bvk.2_Silent_p.L1254L|ABCC1_uc010bvl.2_Silent_p.L1310L|ABCC1_uc010bvm.2_Silent_p.L1195L|ABCC1_uc002del.3_Silent_p.L1204L	p.L1310L	NM_004996	NP_004987	P33527	MRP1_HUMAN			27	4105	+			1310			ABC transporter 2.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3930C>T	CCDS42122.1																																																																																				0.607	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
RLTPR	146206	broad.mit.edu	37	16	67683169	67683169	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:67683169C>T	ENST00000334583.6	+	19	2029	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	RLTPR_ENST00000545661.1_Silent_p.D531D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	567					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGACCCTGGACGACGTCCTGC	0.637																																						uc002etn.2																			0				breast(1)	1						c.(1699-1701)GAC>GAT		RGD motif, leucine rich repeats, tropomodulin							53.0	60.0	58.0					16																	67683169		2013	4154	6167	SO:0001819	synonymous_variant	146206							g.chr16:67683169C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1701C>T	16.37:g.67683169C>T						RLTPR_uc010cel.1_Silent_p.D560D|RLTPR_uc010vjr.1_Silent_p.D531D	p.D567D	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	19	1821	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	567			LRR 12.		B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1701C>T	CCDS45513.1																																																																																				0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
DRG2	1819	broad.mit.edu	37	17	18007951	18007951	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:18007951A>T	ENST00000225729.3	+	11	1048	c.910A>T	c.(910-912)Aca>Tca	p.T304S	DRG2_ENST00000583355.1_Missense_Mutation_p.H110L|DRG2_ENST00000395726.4_Missense_Mutation_p.T304S	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	304					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					GCCAGACTTCACAGACGCCAT	0.607																																						uc002gsh.1																			0				ovary(1)	1						c.(910-912)ACA>TCA		developmentally regulated GTP binding protein 2							86.0	70.0	76.0					17																	18007951		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:18007951A>T	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.910A>T	17.37:g.18007951A>T	ENSP00000225729:p.Thr304Ser					DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.T304S	p.T304S	NM_001388	NP_001379	P55039	DRG2_HUMAN			11	965	+	all_neural(463;0.228)		304					B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.910A>T	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	A	4.908	0.168694	0.09339	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.20881	2.04;2.04	5.76	3.39	0.38822	TGS-like (1);TGS (1);	0.355138	0.36034	N	0.002830	T	0.08268	0.0206	N	0.11756	0.17	0.23636	N	0.997235	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.41395	-0.9511	10	0.02654	T	1	-24.6118	5.6736	0.17735	0.4751:0.0:0.0708:0.4541	.	304;304	A8MZF9;P55039	.;DRG2_HUMAN	S	304	ENSP00000379076:T304S;ENSP00000225729:T304S	ENSP00000225729:T304S	T	+	1	0	DRG2	17948676	0.642000	0.27260	0.982000	0.44146	0.960000	0.62799	0.550000	0.23345	0.318000	0.23185	0.533000	0.62120	ACA		0.607	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3	NM_001388	
TVP23B	51030	broad.mit.edu	37	17	18708852	18708852	+	Splice_Site	SNP	A	A	G	rs2589696		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:18708852A>G	ENST00000307767.8	+	7	890		c.e7-1		TVP23B_ENST00000476139.1_Splice_Site|TVP23B_ENST00000581733.1_Splice_Site	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							integral component of membrane (GO:0016021)											TGTCTTTTGCAGAACACTGGA	0.368																																						uc002gum.2																			0					0						c.e7-2		hypothetical protein LOC51030							113.0	100.0	104.0					17																	18708852		1849	4083	5932	SO:0001630	splice_region_variant	51030					integral to membrane		g.chr17:18708852A>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.592-1A>G	17.37:g.18708852A>G						FAM18B_uc002gun.2_Splice_Site_p.N134_splice	p.N198_splice	NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.0872)|READ - Rectum adenocarcinoma(1115;0.0967)	7	617	+								A8K448|Q96HK5|Q9Y3E6	Splice_Site	SNP	ENST00000307767.8	37	c.592_splice	CCDS42274.1	19	0.0086996336996337	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	12	0.0158311345646438	A	3.616	-0.078582	0.07141	.	.	ENSG00000171928	ENST00000307767	.	.	.	2.57	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.602	0.12357	0.8326:0.0:0.1674:0.0	rs2589696	.	.	.	.	-1	.	.	.	+	.	.	FAM18B1	18649577	1.000000	0.71417	0.757000	0.31301	0.305000	0.27757	3.799000	0.55529	0.228000	0.21019	-1.211000	0.01629	.		0.368	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078	Intron
SLFN12	55106	broad.mit.edu	37	17	33749828	33749828	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749828C>T	ENST00000394562.1	-	4	743	c.220G>A	c.(220-222)Gga>Aga	p.G74R	SLFN12_ENST00000452764.3_Missense_Mutation_p.G74R|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Missense_Mutation_p.G74R			Q8IYM2	SLN12_HUMAN	schlafen family member 12	74							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCCTATTCCATCTTTTGTA	0.363																																						uc002hji.3																			0				skin(1)	1						c.(220-222)GGA>AGA		schlafen family member 12							99.0	97.0	98.0					17																	33749828		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33749828C>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.220G>A	17.37:g.33749828C>T	ENSP00000378063:p.Gly74Arg					SLFN12_uc002hjj.3_Missense_Mutation_p.G74R|SLFN12_uc010cts.2_Missense_Mutation_p.G74R	p.G74R	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	597	-		Ovarian(249;0.17)	74					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.220G>A	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.446396	0.43429	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040	T;T;T;T	0.26957	3.54;3.54;3.54;1.7	3.12	2.12	0.27331	.	.	.	.	.	T	0.29850	0.0746	M	0.71036	2.16	0.09310	N	1	P	0.49783	0.928	P	0.46110	0.504	T	0.12218	-1.0556	9	0.44086	T	0.13	.	6.0489	0.19775	0.0:0.8462:0.0:0.1538	.	74	Q8IYM2	SLN12_HUMAN	R	74	ENSP00000378063:G74R;ENSP00000302077:G74R;ENSP00000394903:G74R;ENSP00000398315:G74R	ENSP00000302077:G74R	G	-	1	0	SLFN12	30773941	0.386000	0.25180	0.005000	0.12908	0.193000	0.23685	1.870000	0.39529	0.625000	0.30304	0.436000	0.28706	GGA		0.363	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042	
SLFN12	55106	broad.mit.edu	37	17	33749831	33749831	+	Missense_Mutation	SNP	C	C	T	rs199661197		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749831C>T	ENST00000394562.1	-	4	740	c.217G>A	c.(217-219)Gat>Aat	p.D73N	SLFN12_ENST00000452764.3_Missense_Mutation_p.D73N|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Missense_Mutation_p.D73N			Q8IYM2	SLN12_HUMAN	schlafen family member 12	73							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTATTCCATCTTTTGTATAA	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		19835	0.001		0.0	False		,,,				2504	0.0					uc002hji.3																			0				skin(1)	1						c.(217-219)GAT>AAT		schlafen family member 12							100.0	98.0	99.0					17																	33749831		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33749831C>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.217G>A	17.37:g.33749831C>T	ENSP00000378063:p.Asp73Asn					SLFN12_uc002hjj.3_Missense_Mutation_p.D73N|SLFN12_uc010cts.2_Missense_Mutation_p.D73N	p.D73N	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	594	-		Ovarian(249;0.17)	73					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.217G>A	CCDS11295.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.42	2.529032	0.44969	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040	T;T;T;T	0.24151	3.75;3.75;3.75;1.87	3.12	-0.807	0.10872	.	.	.	.	.	T	0.31734	0.0806	M	0.73962	2.25	0.09310	N	1	P	0.52842	0.956	P	0.49477	0.612	T	0.17440	-1.0369	9	0.37606	T	0.19	.	5.8134	0.18479	0.2045:0.4004:0.3952:0.0	.	73	Q8IYM2	SLN12_HUMAN	N	73	ENSP00000378063:D73N;ENSP00000302077:D73N;ENSP00000394903:D73N;ENSP00000398315:D73N	ENSP00000302077:D73N	D	-	1	0	SLFN12	30773944	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-3.309000	0.00517	-0.222000	0.09958	0.436000	0.28706	GAT		0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042	
LYZL6	57151	broad.mit.edu	37	17	34261842	34261842	+	Silent	SNP	G	G	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:34261842G>T	ENST00000585556.1	-	5	739	c.405C>A	c.(403-405)ggC>ggA	p.G135G	LYZL6_ENST00000394523.3_Silent_p.G135G|LYZL6_ENST00000293274.4_Silent_p.G135G|LYZL6_ENST00000492340.2_5'Flank			O75951	LYZL6_HUMAN	lysozyme-like 6	135					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAGTGGCCGGCCTGAACAGT	0.537																																						uc002hkj.1																			0					0						c.(403-405)GGC>GGA		lysozyme-like 6 precursor							89.0	82.0	85.0					17																	34261842		2203	4300	6503	SO:0001819	synonymous_variant	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34261842G>T	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.405C>A	17.37:g.34261842G>T						LYZL6_uc002hkk.1_Silent_p.G135G	p.G135G	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	555	-			135					Q6UW30	Silent	SNP	ENST00000585556.1	37	c.405C>A	CCDS11302.1																																																																																				0.537	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426	
HOXB9	3219	broad.mit.edu	37	17	46703491	46703491	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703491G>C	ENST00000311177.5	-	1	348	c.141C>G	c.(139-141)ttC>ttG	p.F47L	HOXB9_ENST00000550387.1_Missense_Mutation_p.F47L|HOXB-AS4_ENST00000480386.1_RNA|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	47					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TGCACGAGGGGAACTCCAGGT	0.687																																						uc002inx.2																			0					0						c.(139-141)TTC>TTG		homeobox B9							9.0	12.0	11.0					17																	46703491		2183	4271	6454	SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703491G>C		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.141C>G	17.37:g.46703491G>C	ENSP00000309439:p.Phe47Leu						p.F47L	NM_024017	NP_076922	P17482	HXB9_HUMAN			1	345	-			47					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.141C>G	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013653	0.75161	.	.	ENSG00000170689	ENST00000311177;ENST00000442657;ENST00000550387	D	0.94046	-3.34	4.66	3.65	0.41850	Hox9, N-terminal activation domain (1);	0.061406	0.64402	D	0.000004	D	0.90359	0.6983	M	0.64404	1.975	0.51767	D	0.999937	P	0.51449	0.945	B	0.43623	0.425	D	0.86455	0.1775	10	0.25751	T	0.34	.	7.8511	0.29455	0.0819:0.0:0.7561:0.162	.	47	P17482	HXB9_HUMAN	L	47	ENSP00000309439:F47L	ENSP00000309439:F47L	F	-	3	2	HOXB9	44058490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.472000	0.35376	1.022000	0.39626	0.555000	0.69702	TTC		0.687	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2		
HOXB9	3219	broad.mit.edu	37	17	46703538	46703538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703538G>A	ENST00000311177.5	-	1	301	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	HOXB9_ENST00000550387.1_Nonsense_Mutation_p.Q32*|HOXB-AS4_ENST00000480386.1_RNA|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	32					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTCGCGTACTGGCCAGAAGGA	0.622																																						uc002inx.2																			0					0						c.(94-96)CAG>TAG		homeobox B9							16.0	18.0	17.0					17																	46703538		2187	4261	6448	SO:0001587	stop_gained	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703538G>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.94C>T	17.37:g.46703538G>A	ENSP00000309439:p.Gln32*						p.Q32*	NM_024017	NP_076922	P17482	HXB9_HUMAN			1	298	-			32					B2RDB7|Q9H1I1	Nonsense_Mutation	SNP	ENST00000311177.5	37	c.94C>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198250	0.94997	.	.	ENSG00000170689	ENST00000311177;ENST00000442657;ENST00000550387	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	17.7491	0.88429	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000309439:Q32X	Q	-	1	0	HOXB9	44058537	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	9.677000	0.98645	2.242000	0.73789	0.505000	0.49811	CAG		0.622	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2		
CACNG1	786	broad.mit.edu	37	17	65041001	65041001	+	Silent	SNP	C	C	T	rs573783922	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:65041001C>T	ENST00000226021.3	+	1	296	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	75					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCACCCTGCCCGGGGGTAACG	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.002					uc002jfu.2																			0					0						c.(223-225)CCC>CCT		voltage-dependent calcium channel gamma-1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						43.0	40.0	41.0					17																	65041001		2203	4300	6503	SO:0001819	synonymous_variant	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65041001C>T	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.225C>T	17.37:g.65041001C>T							p.P75P	NM_000727	NP_000718	Q06432	CCG1_HUMAN			1	296	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		75					B2R9N3|Q14D59	Silent	SNP	ENST00000226021.3	37	c.225C>T	CCDS11668.1																																																																																				0.637	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1		
KIF19	124602	broad.mit.edu	37	17	72345359	72345359	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:72345359G>A	ENST00000389916.4	+	10	1222	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	362					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTACCACATCGCCCAGTACAC	0.642																																						uc002jkm.3																			0					0						c.(1084-1086)GCC>ACC		kinesin family member 19							83.0	70.0	74.0					17																	72345359		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345359G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1084G>A	17.37:g.72345359G>A	ENSP00000374566:p.Ala362Thr					KIF19_uc002jkj.2_Missense_Mutation_p.A362T|KIF19_uc002jkk.2_Missense_Mutation_p.A320T|KIF19_uc002jkl.2_Missense_Mutation_p.A320T	p.A362T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			10	1222	+			362			Potential.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1084G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097807	0.76870	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.72725	-0.68;-0.68	5.9	4.9	0.64082	.	.	.	.	.	T	0.74107	0.3673	L	0.43152	1.355	0.48185	D	0.999608	P;D;P;P	0.67145	0.949;0.996;0.72;0.526	B;P;B;B	0.58928	0.312;0.848;0.287;0.138	T	0.67929	-0.5543	9	0.20519	T	0.43	.	15.4918	0.75611	0.0:0.0:0.8611:0.1389	.	362;320;320;362	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	320;362	ENSP00000449134:A320T;ENSP00000374566:A362T	ENSP00000374566:A362T	A	+	1	0	KIF19	69856954	1.000000	0.71417	0.967000	0.41034	0.228000	0.25075	6.893000	0.75649	2.822000	0.97130	0.556000	0.70494	GCC		0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
LAMA1	284217	broad.mit.edu	37	18	6978310	6978310	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:6978310C>T	ENST00000389658.3	-	43	6168	c.6075G>A	c.(6073-6075)acG>acA	p.T2025T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2025	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGTCCCTCAGCGTGCTCACCG	0.537																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6073-6075)ACG>ACA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						113.0	102.0	106.0					18																	6978310		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6978310C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6075G>A	18.37:g.6978310C>T						LAMA1_uc010wzj.1_Silent_p.T1501T	p.T2025T	NM_005559	NP_005550	P25391	LAMA1_HUMAN			43	6169	-		Colorectal(10;0.172)	2025			Domain II and I.			Silent	SNP	ENST00000389658.3	37	c.6075G>A	CCDS32787.1																																																																																				0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
SETBP1	26040	broad.mit.edu	37	18	42530386	42530386	+	Missense_Mutation	SNP	G	G	T	rs146321232		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:42530386G>T	ENST00000282030.5	+	4	1377	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	361						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCCAGAAAGCATTTGACAA	0.478									Schinzel-Giedion syndrome																													uc010dni.2																			0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1081-1083)GCA>TCA		SET binding protein 1 isoform a		G	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	72.0	72.0	72.0		1081	4.9	1.0	18	dbSNP_134	72	0,8600		0,0,4300	no	missense	SETBP1	NM_015559.2	99	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	361/1597	42530386	1,13005	2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530386G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1081G>T	18.37:g.42530386G>T	ENSP00000282030:p.Ala361Ser						p.A361S	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1377	+			361					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1081G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859927	0.32884	2.27E-4	0.0	ENSG00000152217	ENST00000282030	T	0.33654	1.4	5.78	4.9	0.64082	.	0.244368	0.41294	D	0.000914	T	0.23886	0.0578	L	0.27053	0.805	0.27635	N	0.947905	B	0.06786	0.001	B	0.08055	0.003	T	0.13737	-1.0498	10	0.19590	T	0.45	.	10.5234	0.44934	0.0689:0.0:0.7973:0.1338	.	361	Q9Y6X0	SETBP_HUMAN	S	361	ENSP00000282030:A361S	ENSP00000282030:A361S	A	+	1	0	SETBP1	40784384	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.983000	0.56916	1.579000	0.49836	0.655000	0.94253	GCA		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
ZNF254	9534	broad.mit.edu	37	19	24309636	24309636	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:24309636C>T	ENST00000357002.4	+	4	949	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ZNF254_ENST00000342944.6_Silent_p.S193S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	278					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAATCGATCCTCAAATCTTA	0.378																																						uc002nru.2																			0					0						c.(832-834)TCC>TCT		zinc finger protein 254							33.0	35.0	35.0					19																	24309636		2199	4298	6497	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309636C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.834C>T	19.37:g.24309636C>T						ZNF254_uc010xrk.1_Silent_p.S193S	p.S278S	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	968	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	278			C2H2-type 3.		A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.834C>T	CCDS32983.1																																																																																				0.378	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876	
MEGF8	1954	broad.mit.edu	37	19	42861568	42861568	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:42861568G>A	ENST00000251268.6	+	28	4843	c.4843G>A	c.(4843-4845)Gtg>Atg	p.V1615M	MEGF8_ENST00000334370.4_Missense_Mutation_p.V1548M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1615					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCCAGACCGTGGAGCTGCC	0.652																																						uc002otl.3																			0				ovary(1)	1						c.(4642-4644)GTG>ATG		multiple EGF-like-domains 8							58.0	61.0	60.0					19																	42861568		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42861568G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4843G>A	19.37:g.42861568G>A	ENSP00000251268:p.Val1615Met					MEGF8_uc002otm.3_Missense_Mutation_p.V1156M	p.V1548M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			27	5277	+		Prostate(69;0.00682)	1615			Extracellular (Potential).|Kelch 8.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4642G>A		.	.	.	.	.	.	.	.	.	.	G	11.19	1.564759	0.27915	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.23348	1.91;1.92	5.21	1.64	0.23874	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.643221	0.15083	N	0.281537	T	0.12774	0.0310	L	0.27053	0.805	0.80722	D	1	P;B	0.44006	0.824;0.018	B;B	0.36504	0.226;0.005	T	0.11991	-1.0565	10	0.46703	T	0.11	-2.4518	2.2335	0.04002	0.1182:0.2874:0.427:0.1674	.	1615;1548	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1548;1615	ENSP00000334219:V1548M;ENSP00000251268:V1615M	ENSP00000251268:V1615M	V	+	1	0	MEGF8	47553408	0.044000	0.20184	0.553000	0.28255	0.560000	0.35617	0.058000	0.14301	0.524000	0.28502	0.563000	0.77884	GTG		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
DUXA	503835	broad.mit.edu	37	19	57669795	57669795	+	Silent	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:57669795T>C	ENST00000554048.2	-	4	338	c.339A>G	c.(337-339)ttA>ttG	p.L113L		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TGAGAGTGTGTAACTGAGAGG	0.488																																						uc002qoa.1																			0				ovary(1)	1						c.(337-339)TTA>TTG		double homeobox A							92.0	90.0	91.0					19																	57669795		2203	4300	6503	SO:0001819	synonymous_variant	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57669795T>C		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.339A>G	19.37:g.57669795T>C							p.L113L	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	4	384	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	113			Homeobox 2.			Silent	SNP	ENST00000554048.2	37	c.339A>G	CCDS33126.1																																																																																				0.488	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729	
OTOF	9381	broad.mit.edu	37	2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	rs143889717		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:26686908C>T	ENST00000272371.2	-	40	5153	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_ENST00000402415.3_Missense_Mutation_p.R986H|OTOF_ENST00000403946.3_Missense_Mutation_p.R1676H|OTOF_ENST00000338581.6_Missense_Mutation_p.R909H|OTOF_ENST00000339598.3_Missense_Mutation_p.R909H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1676					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(5026-5028)CGC>CAC		otoferlin isoform a		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	72.0	71.0		2726,5027,2957,2726	4.4	0.9	2	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	909/1231,1676/1998,986/1308,909/1231	26686908	1,13005	2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26686908C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5027G>A	2.37:g.26686908C>T	ENSP00000272371:p.Arg1676His					OTOF_uc010yla.1_Missense_Mutation_p.R406H|OTOF_uc002rhh.2_Missense_Mutation_p.R909H|OTOF_uc002rhi.2_Missense_Mutation_p.R986H|OTOF_uc002rhj.2_Missense_Mutation_p.R909H	p.R1676H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			40	5154	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1676			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5027G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356612	0.82243	2.27E-4	0.0	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.4	4.4	0.53042	.	0.120976	0.56097	D	0.000026	T	0.64505	0.2604	M	0.68952	2.095	0.80722	D	1	P;P;D;P	0.58970	0.946;0.793;0.984;0.601	P;B;P;B	0.54238	0.542;0.417;0.746;0.417	T	0.68845	-0.5301	10	0.52906	T	0.07	-19.7042	16.7839	0.85569	0.0:1.0:0.0:0.0	.	1676;909;986;909	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	909;909;986;1676;1676	ENSP00000345137:R909H;ENSP00000344521:R909H;ENSP00000383906:R986H;ENSP00000272371:R1676H;ENSP00000385255:R1676H	ENSP00000272371:R1676H	R	-	2	0	OTOF	26540412	0.992000	0.36948	0.911000	0.35937	0.418000	0.31294	5.898000	0.69838	2.264000	0.75181	0.561000	0.74099	CGC		0.667	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	rs373153121		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49207-49209)GTG>ATG		titin isoform N2-A		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151.0	150.0	151.0		29716,49207,30091,30292	5.2	1.0	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10098M|TTN_uc010zfi.1_Missense_Mutation_p.V10031M|TTN_uc010zfj.1_Missense_Mutation_p.V9906M	p.V16403M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	49431	-			17330					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49207G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CPS1	1373	broad.mit.edu	37	2	211469880	211469880	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:211469880G>C	ENST00000233072.5	+	17	2087	c.1891G>C	c.(1891-1893)Gaa>Caa	p.E631Q	CPS1_ENST00000430249.2_Missense_Mutation_p.E637Q|CPS1_ENST00000451903.2_Missense_Mutation_p.E180Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	631	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGGTTGGAAAGAAATAGAATA	0.408																																						uc002vee.3																			0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1891-1893)GAA>CAA		carbamoyl-phosphate synthetase 1 isoform b							144.0	132.0	136.0					2																	211469880		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211469880G>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1891G>C	2.37:g.211469880G>C	ENSP00000233072:p.Glu631Gln					CPS1_uc010fur.2_Missense_Mutation_p.E637Q|CPS1_uc010fus.2_Missense_Mutation_p.E180Q	p.E631Q	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	17	2023	+			631			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1891G>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740640	0.89573	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98585	-5.01;-5.01;-5.01	5.69	5.69	0.88448	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98249	1.0492	10	0.87932	D	0	-0.0045	19.8155	0.96566	0.0:0.0:1.0:0.0	.	641;631	Q59HF8;P31327	.;CPSM_HUMAN	Q	637;639;631;180	ENSP00000402608:E637Q;ENSP00000233072:E631Q;ENSP00000406136:E180Q	ENSP00000233072:E631Q	E	+	1	0	CPS1	211178125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.682000	0.91365	0.650000	0.86243	GAA		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
COL4A4	1286	broad.mit.edu	37	2	227917071	227917071	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:227917071G>A	ENST00000396625.3	-	32	3125	c.2918C>T	c.(2917-2919)aCa>aTa	p.T973I	COL4A4_ENST00000329662.7_Missense_Mutation_p.T973I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	973	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCCCAGGTGTTCCCTTTTG	0.403																																						uc010zlt.1																			0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2917-2919)ACA>ATA		alpha 4 type IV collagen precursor							116.0	114.0	115.0					2																	227917071		1842	4093	5935	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227917071G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2918C>T	2.37:g.227917071G>A	ENSP00000379866:p.Thr973Ile						p.T973I	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	32	3572	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	973			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2918C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578281	0.28180	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93189	-3.18;-3.18	5.55	0.22	0.15279	.	.	.	.	.	T	0.81945	0.4930	N	0.05124	-0.11	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.69228	-0.5200	9	0.37606	T	0.19	.	5.2551	0.15542	0.0:0.1537:0.2874:0.5589	.	973	P53420	CO4A4_HUMAN	I	973	ENSP00000379866:T973I;ENSP00000328553:T973I	ENSP00000328553:T973I	T	-	2	0	COL4A4	227625315	0.001000	0.12720	0.000000	0.03702	0.641000	0.38312	0.868000	0.27982	-0.177000	0.10690	-0.375000	0.07067	ACA		0.403	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
TASP1	55617	broad.mit.edu	37	20	13514755	13514755	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:13514755C>T	ENST00000337743.4	-	9	829	c.709G>A	c.(709-711)Gct>Act	p.A237T	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	237					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ACAACCACAGCGCCTACCGTG	0.507																																						uc002woi.2																			0					0						c.(709-711)GCT>ACT		taspase 1 precursor							167.0	142.0	151.0					20																	13514755		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13514755C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.709G>A	20.37:g.13514755C>T	ENSP00000338624:p.Ala237Thr					TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.A214T|TASP1_uc010zrj.1_RNA	p.A237T	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			9	826	-			237					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.709G>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640206	0.96693	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.87809	-2.3;-2.3	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	D	0.95816	0.8845	10	0.87932	D	0	-10.8983	19.6321	0.95713	0.0:1.0:0.0:0.0	.	237;214	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	T	214;237;214	ENSP00000338624:A237T;ENSP00000400580:A214T	ENSP00000338624:A237T	A	-	1	0	TASP1	13462755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.031000	0.76491	2.734000	0.93682	0.655000	0.94253	GCT		0.507	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
REM1	28954	broad.mit.edu	37	20	30070268	30070268	+	Missense_Mutation	SNP	G	G	A	rs199660041		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:30070268G>A	ENST00000201979.2	+	4	895	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	201					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTGGCCCGCTGCCGAGAA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18449	0.0		0.001	False		,,,				2504	0.0					uc002wwa.2																			0				lung(2)|pancreas(2)	4						c.(601-603)CGC>CAC		RAS-like GTP-binding protein REM							68.0	63.0	65.0					20																	30070268		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070268G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.602G>A	20.37:g.30070268G>A	ENSP00000201979:p.Arg201His						p.R201H	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	886	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		201					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.602G>A	CCDS13181.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.353122	0.95830	.	.	ENSG00000088320	ENST00000201979	T	0.79845	-1.31	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	L	0.38649	1.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87002	0.2117	10	0.72032	D	0.01	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	201	O75628	REM1_HUMAN	H	201	ENSP00000201979:R201H	ENSP00000201979:R201H	R	+	2	0	REM1	29533929	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.652000	0.98499	2.577000	0.86979	0.563000	0.77884	CGC		0.612	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	
TRPM2	7226	broad.mit.edu	37	21	45826547	45826547	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr21:45826547C>A	ENST00000397928.1	+	19	3306	c.2861C>A	c.(2860-2862)gCc>gAc	p.A954D	TRPM2_ENST00000300481.9_Missense_Mutation_p.A934D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A954D|TRPM2_ENST00000300482.5_Missense_Mutation_p.A954D	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	954					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCAAGCAGGCCATCCTCATC	0.607																																						uc002zet.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2860-2862)GCC>GAC		transient receptor potential cation channel,							55.0	50.0	51.0					21																	45826547		2191	4289	6480	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45826547C>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2861C>A	21.37:g.45826547C>A	ENSP00000381023:p.Ala954Asp					TRPM2_uc002zeu.1_Missense_Mutation_p.A954D|TRPM2_uc002zew.1_Missense_Mutation_p.A954D|TRPM2_uc010gpt.1_Missense_Mutation_p.A954D|TRPM2_uc002zex.1_Missense_Mutation_p.A740D|TRPM2_uc002zey.1_Missense_Mutation_p.A467D	p.A954D	NM_003307	NP_003298	O94759	TRPM2_HUMAN			20	3074	+			954			Helical; (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2861C>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	c	19.97	3.925754	0.73213	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	3.98	3.04	0.35103	Ion transport (1);	0.224693	0.38326	N	0.001737	D	0.82628	0.5078	M	0.90082	3.085	0.51482	D	0.999924	D;D;D	0.67145	0.996;0.981;0.981	P;D;P	0.64687	0.873;0.928;0.873	D	0.85918	0.1444	10	0.87932	D	0	-17.2408	13.4373	0.61092	0.0:0.8409:0.1591:0.0	.	954;740;954	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	D	954;954;934;954	ENSP00000300482:A954D;ENSP00000381023:A954D;ENSP00000300481:A934D;ENSP00000381026:A954D	ENSP00000300481:A934D	A	+	2	0	TRPM2	44650975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.164000	0.50770	0.732000	0.32470	0.536000	0.68110	GCC		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
CNTN6	27255	broad.mit.edu	37	3	1427473	1427473	+	Missense_Mutation	SNP	A	A	G	rs143460057		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:1427473A>G	ENST00000446702.2	+	20	3323	c.2696A>G	c.(2695-2697)aAa>aGa	p.K899R	CNTN6_ENST00000350110.2_Missense_Mutation_p.K899R|CNTN6_ENST00000539053.1_Missense_Mutation_p.K827R			Q9UQ52	CNTN6_HUMAN	contactin 6	899	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTACCACCAAAAAGTCTCGT	0.453																																						uc003boz.2																			0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2695-2697)AAA>AGA		contactin 6 precursor		A	ARG/LYS	0,4406		0,0,2203	116.0	114.0	115.0		2696	5.8	1.0	3	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	899/1029	1427473	1,13005	2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427473A>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2696A>G	3.37:g.1427473A>G	ENSP00000407822:p.Lys899Arg					CNTN6_uc011asj.1_Missense_Mutation_p.K827R|CNTN6_uc003bpa.2_Missense_Mutation_p.K899R	p.K899R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	2963	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	899					Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2696A>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047682	0.36085	0.0	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.54071	0.59;0.59;0.59	5.75	5.75	0.90469	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.45518	0.1346	M	0.64170	1.965	0.49213	D	0.999769	B	0.09022	0.002	B	0.11329	0.006	T	0.37731	-0.9693	10	0.13470	T	0.59	.	8.4454	0.32838	0.8555:0.0:0.1445:0.0	.	899	Q9UQ52	CNTN6_HUMAN	R	899;827;899	ENSP00000407822:K899R;ENSP00000442791:K827R;ENSP00000341882:K899R	ENSP00000341882:K899R	K	+	2	0	CNTN6	1402473	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	4.151000	0.58105	2.188000	0.69820	0.528000	0.53228	AAA		0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
CCR5	1234	broad.mit.edu	37	3	46414783	46414783	+	Silent	SNP	C	C	T	rs559783442	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:46414783C>T	ENST00000292303.4	+	2	536	c.390C>T	c.(388-390)gtC>gtT	p.V130V	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Silent_p.V130V|CCR5_ENST00000445772.1_Silent_p.V130V	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	130					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGGCTGTCGTCCATGCTG	0.478													C|||	4	0.000798722	0.0	0.0	5008	,	,		19430	0.0		0.0	False		,,,				2504	0.0041					uc003cpo.3																			0				lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(388-390)GTC>GTT		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						166.0	170.0	169.0					3																	46414783		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414783C>T		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.390C>T	3.37:g.46414783C>T						CCR5_uc010hjd.2_Silent_p.V130V	p.V130V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	512	+			130			Cytoplasmic (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.390C>T	CCDS2739.1																																																																																				0.478	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579	
STAB1	23166	broad.mit.edu	37	3	52543899	52543899	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:52543899C>T	ENST00000321725.6	+	23	2437	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	787					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGCTGTGTCCATGGTCTCT	0.632																																						uc003dej.2																			0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(2359-2361)GTC>GTT		stabilin 1 precursor							30.0	31.0	31.0					3																	52543899		2201	4289	6490	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52543899C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2361C>T	3.37:g.52543899C>T							p.V787V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	23	2435	+			787			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.2361C>T	CCDS33768.1																																																																																				0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
KDR	3791	broad.mit.edu	37	4	55984940	55984940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:55984940C>T	ENST00000263923.4	-	3	484	c.189G>A	c.(187-189)tgG>tgA	p.W63*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	63	Ig-like C2-type 1.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATTATTGGGCCAAAGCCAGT	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(187-189)TGG>TGA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						98.0	98.0	98.0					4																	55984940		2203	4300	6503	SO:0001587	stop_gained	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55984940C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.189G>A	4.37:g.55984940C>T	ENSP00000263923:p.Trp63*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.W63*|KDR_uc011bzx.1_Nonsense_Mutation_p.W63*	p.W63*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		3	491	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		63			Ig-like C2-type 1.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.189G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	39	7.656704	0.98415	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.63	5.63	0.86233	.	0.127352	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000263923:W63X	W	-	3	0	KDR	55679697	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.324000	0.59228	2.814000	0.96858	0.655000	0.94253	TGG		0.448	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
HELT	391723	broad.mit.edu	37	4	185941817	185941817	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:185941817C>T	ENST00000515777.1	+	4	708	c.620C>T	c.(619-621)cCc>cTc	p.P207L	HELT_ENST00000338875.4_Missense_Mutation_p.P292L|HELT_ENST00000505610.1_Missense_Mutation_p.P206L			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	207	Pro-rich.				central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGCACAGCCCCTTCCTGACA	0.736																																						uc011ckq.1																			0					0						c.(874-876)CCC>CTC		HES/HEY-like transcription factor							20.0	22.0	21.0					4																	185941817		2201	4295	6496	SO:0001583	missense	391723						DNA binding	g.chr4:185941817C>T	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.620C>T	4.37:g.185941817C>T	ENSP00000426033:p.Pro207Leu					HELT_uc011cko.1_Missense_Mutation_p.P207L|HELT_uc003ixa.3_Missense_Mutation_p.P206L|HELT_uc011ckp.1_Missense_Mutation_p.P150L	p.P292L	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	875	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	292			Pro-rich.		B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37	c.875C>T		.	.	.	.	.	.	.	.	.	.	C	13.48	2.250178	0.39797	.	.	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;T	0.65916	-0.18;-0.17;1.78	4.96	4.96	0.65561	.	0.377707	0.27640	N	0.018472	T	0.48696	0.1514	N	0.24115	0.695	0.41396	D	0.987646	B;B;B	0.29716	0.255;0.012;0.02	B;B;B	0.24974	0.057;0.015;0.034	T	0.54497	-0.8285	10	0.72032	D	0.01	.	14.7034	0.69171	0.1454:0.8546:0.0:0.0	.	292;207;206	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	L	206;207;292	ENSP00000422140:P206L;ENSP00000426033:P207L;ENSP00000343464:P292L	ENSP00000343464:P292L	P	+	2	0	HELT	186178811	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	4.541000	0.60670	2.295000	0.77249	0.561000	0.74099	CCC		0.736	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781	
KDM1B	221656	broad.mit.edu	37	6	18213891	18213891	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:18213891C>A	ENST00000297792.5	+	15	1469	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Missense_Mutation_p.A664D|KDM1B_ENST00000397244.1_Missense_Mutation_p.A432D			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	663					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTGCAGATTGCCTTGCAATTT	0.463																																						uc003nco.1																			0				skin(1)	1						c.(1378-1380)GCC>GAC		amine oxidase (flavin containing) domain 1							257.0	253.0	254.0					6																	18213891		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18213891C>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1292C>A	6.37:g.18213891C>A	ENSP00000297792:p.Ala431Asp					KDM1B_uc003ncn.1_Missense_Mutation_p.A431D|KDM1B_uc003ncp.1_Missense_Mutation_p.A16D|KDM1B_uc003ncq.1_Missense_Mutation_p.A16D	p.A460D	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			12	1454	+			663					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1379C>A	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.52|19.52	3.843776|3.843776	0.71488|0.71488	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.92752|.	-3.1;-3.1;-3.1|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Amine oxidase (1);|.	0.050449|.	0.85682|.	D|.	0.000000|.	T|T	0.82176|0.82176	0.4980|0.4980	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	P;D;D|.	0.60575|.	0.91;0.988;0.979|.	P;D;P|.	0.63033|.	0.689;0.91;0.76|.	T|T	0.82857|0.82857	-0.0250|-0.0250	10|5	0.49607|.	T|.	0.09|.	-9.8204|-9.8204	20.2618|20.2618	0.98447|0.98447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	480;663;431|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	D|T	664;432;431;663|481	ENSP00000373522:A664D;ENSP00000380419:A432D;ENSP00000297792:A431D|.	ENSP00000297792:A431D|.	A|P	+|+	2|1	0|0	KDM1B|KDM1B	18321870|18321870	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.693000|0.693000	0.40251|0.40251	3.887000|3.887000	0.56197|0.56197	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.463	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042	
VPS52	6293	broad.mit.edu	37	6	33232605	33232605	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:33232605G>A	ENST00000445902.2	-	13	1572	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R327W	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	452					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTACGGAACCGGAGAACAATG	0.483																																						uc003odm.1																			0				ovary(4)|skin(1)	5						c.(1354-1356)CGG>TGG		vacuolar protein sorting 52							290.0	266.0	275.0					6																	33232605		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232605G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1354C>T	6.37:g.33232605G>A	ENSP00000409952:p.Arg452Trp					VPS52_uc003odn.1_Missense_Mutation_p.R263W	p.R452W	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			13	1564	-			452					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1354C>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483625	0.84854	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.2	5.2	0.72013	.	0.059480	0.64402	D	0.000002	T	0.55545	0.1927	M	0.78637	2.42	0.80722	D	1	P;P	0.51537	0.946;0.621	P;B	0.48166	0.569;0.179	T	0.61806	-0.6987	9	0.54805	T	0.06	-10.8434	11.4985	0.50424	0.0:0.0:0.8211:0.1789	.	263;452	B3KMF7;Q8N1B4	.;VPS52_HUMAN	W	452;430;327	.	ENSP00000414785:R430W	R	-	1	2	VPS52	33340583	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	3.178000	0.50879	2.875000	0.98604	0.643000	0.83706	CGG		0.483	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
TFAP2B	7021	broad.mit.edu	37	6	50810943	50810943	+	Silent	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:50810943C>A	ENST00000393655.3	+	7	1390	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A	TFAP2B_ENST00000263046.4_Silent_p.A416A	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	407				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCTTCGGCGCCCCGGCCATTT	0.627																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2																			0					0						c.(1219-1221)GCC>GCA		transcription factor AP-2 beta							55.0	59.0	57.0					6																	50810943		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810943C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1221C>A	6.37:g.50810943C>A							p.A407A	NM_003221	NP_003212	Q92481	AP2B_HUMAN			7	1387	+	Lung NSC(77;0.156)		407	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1221C>A	CCDS4934.2																																																																																				0.627	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
TRIP6	7205	broad.mit.edu	37	7	100466151	100466151	+	Missense_Mutation	SNP	C	C	T	rs541670413	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:100466151C>T	ENST00000200457.4	+	4	758	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	133					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTACCGCACGGGCTCCCTG	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		15429	0.0		0.0	False		,,,				2504	0.0031					uc003uww.2																			0				central_nervous_system(2)	2						c.(397-399)ACG>ATG		thyroid receptor-interacting protein 6							51.0	58.0	56.0					7																	100466151		2138	4193	6331	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100466151C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.398C>T	7.37:g.100466151C>T	ENSP00000200457:p.Thr133Met					TRIP6_uc010lhk.1_RNA	p.T133M	NM_003302	NP_003293	Q15654	TRIP6_HUMAN			4	568	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		133					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.398C>T	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	3.411	-0.120127	0.06838	.	.	ENSG00000087077	ENST00000200457	T	0.59083	0.29	4.44	0.273	0.15650	.	11.943800	0.00166	N	0.000002	T	0.37128	0.0992	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.26916	-1.0089	10	0.51188	T	0.08	.	4.3356	0.11085	0.0:0.5293:0.1666:0.3041	.	133	Q15654	TRIP6_HUMAN	M	133	ENSP00000200457:T133M	ENSP00000200457:T133M	T	+	2	0	TRIP6	100304087	0.000000	0.05858	0.002000	0.10522	0.060000	0.15804	0.073000	0.14640	-0.007000	0.14345	-0.379000	0.06801	ACG		0.637	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302	
GRM8	2918	broad.mit.edu	37	7	126086220	126086220	+	Silent	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:126086220G>A	ENST00000339582.2	-	10	3445	c.2637C>T	c.(2635-2637)ggC>ggT	p.G879G	GRM8_ENST00000358373.3_Silent_p.G879G|GRM8_ENST00000444921.2_Silent_p.G879G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	879					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTTTCACCTCGCCATTTGGTC	0.453										HNSCC(24;0.065)																												uc003vlr.2																			0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2635-2637)GGC>GGT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						209.0	189.0	196.0					7																	126086220		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086220G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2637C>T	7.37:g.126086220G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.G879G|GRM8_uc010lkz.1_RNA	p.G879G	NM_000845	NP_000836	O00222	GRM8_HUMAN			9	2948	-		Prostate(267;0.186)	879			Cytoplasmic (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2637C>T	CCDS5794.1																																																																																				0.453	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
RAB11FIP1	80223	broad.mit.edu	37	8	37732071	37732071	+	Silent	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr8:37732071G>A	ENST00000330843.4	-	3	1596	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	RAB11FIP1_ENST00000287263.4_Silent_p.S528S|RAB11FIP1_ENST00000524118.1_Silent_p.S380S|RAB11FIP1_ENST00000522727.1_Silent_p.S380S|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	528					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCTCGGAGAGGAAATTGGAG	0.547																																						uc003xkm.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1582-1584)TCC>TCT		RAB11 family interacting protein 1 isoform 3							67.0	66.0	66.0					8																	37732071		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732071G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1584C>T	8.37:g.37732071G>A						RAB11FIP1_uc010lvz.1_Silent_p.S376S|RAB11FIP1_uc003xkn.1_Silent_p.S528S|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.S376S	p.S528S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1628	-		Lung NSC(58;0.118)|all_lung(54;0.195)	528					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1584C>T	CCDS34882.1																																																																																				0.547	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
MID2	11043	broad.mit.edu	37	X	107160914	107160914	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chrX:107160914G>T	ENST00000262843.6	+	7	1928	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Intron	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	460	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGGCCAGAGATAAGGAAAT	0.468																																						uc004enl.2																			0				ovary(1)	1						c.(1378-1380)GAG>GAT		midline 2 isoform 1							174.0	150.0	158.0					X																	107160914		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160914G>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1380G>T	X.37:g.107160914G>T	ENSP00000262843:p.Glu460Asp					MID2_uc004enk.2_Intron	p.E460D	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			7	1953	+			460			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1380G>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609073	0.28623	.	.	ENSG00000080561	ENST00000262843	T	0.59638	0.25	4.96	4.96	0.65561	Fibronectin, type III (3);	0.302365	0.27891	N	0.017433	T	0.52224	0.1721	N	0.08118	0	0.80722	D	1	B	0.30068	0.267	P	0.48654	0.585	T	0.60622	-0.7227	10	0.66056	D	0.02	.	12.2967	0.54852	0.0:0.0:1.0:0.0	.	460	Q9UJV3	TRIM1_HUMAN	D	460	ENSP00000262843:E460D	ENSP00000262843:E460D	E	+	3	2	MID2	107047570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.646000	0.37249	2.294000	0.77228	0.538000	0.68166	GAG		0.468	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	
