#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
SLC45A1	50651	broad.mit.edu	37	1	8390537	8390537	+	Silent	SNP	G	G	A	rs200823214		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:8390537G>A	ENST00000471889.1	+	5	1369	c.984G>A	c.(982-984)tcG>tcA	p.S328S	SLC45A1_ENST00000289877.8_Silent_p.S328S|SLC45A1_ENST00000481265.1_3'UTR|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Silent_p.S362S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	328					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCGTCGCACACGGCCA	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		13084	0.001		0.0	False		,,,				2504	0.0					uc001apb.2																			0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(982-984)TCG>TCA		DNB5							25.0	25.0	25.0					1																	8390537		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390537G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.984G>A	1.37:g.8390537G>A						SLC45A1_uc001apc.2_Silent_p.S26S	p.S328S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	984	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	328					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.984G>A	CCDS30577.1																																																																																				0.697	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5		
KLHDC7A	127707	broad.mit.edu	37	1	18809465	18809465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:18809465G>A	ENST00000400664.1	+	1	2042	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	664						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACCGGGGGCAGCAAGGA	0.682																																						uc001bax.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1990-1992)GGC>AGC		kelch domain containing 7A							30.0	32.0	31.0					1																	18809465		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18809465G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1990G>A	1.37:g.18809465G>A	ENSP00000383505:p.Gly664Ser					KLHDC7A_uc009vpg.2_Missense_Mutation_p.G446S	p.G664S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2042	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	664			Kelch 5.		Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1990G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052158	0.75960	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.20332	2.08	4.68	4.68	0.58851	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.39633	1.23	0.49798	D	0.999825	P;P	0.51147	0.942;0.942	P;P	0.51918	0.684;0.684	T	0.01456	-1.1350	10	0.34782	T	0.22	.	16.1501	0.81611	0.0:0.0:1.0:0.0	.	601;664	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	S	664;601	ENSP00000383505:G664S	ENSP00000383505:G664S	G	+	1	0	KLHDC7A	18682052	1.000000	0.71417	0.988000	0.46212	0.965000	0.64279	4.093000	0.57714	2.123000	0.65237	0.561000	0.74099	GGC		0.682	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
MTFR1L	56181	broad.mit.edu	37	1	26156090	26156090	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:26156090C>T	ENST00000374301.3	+	6	850	c.542C>T	c.(541-543)aCa>aTa	p.T181I	MTFR1L_ENST00000374303.2_Missense_Mutation_p.T181I|MTFR1L_ENST00000474295.1_Intron|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000526894.1_Intron|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000466284.1_Intron|MTFR1L_ENST00000524618.1_Missense_Mutation_p.T84I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.T169I|MTFR1L_ENST00000374300.3_Missense_Mutation_p.T181I	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	181																	TTCCACTCTACAACTTCCTTT	0.478																																						uc001bkq.3																			0				pancreas(1)	1						c.(541-543)ACA>ATA		hypothetical protein LOC56181 isoform a							253.0	224.0	233.0					1																	26156090		1898	4132	6030	SO:0001583	missense	56181							g.chr1:26156090C>T		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.542C>T	1.37:g.26156090C>T	ENSP00000363419:p.Thr181Ile					FAM54B_uc001bkr.3_Intron|FAM54B_uc010oet.1_Missense_Mutation_p.T214I|FAM54B_uc009vrz.2_Missense_Mutation_p.T166I|FAM54B_uc001bks.3_Missense_Mutation_p.T181I|FAM54B_uc001bkt.3_Missense_Mutation_p.T181I|FAM54B_uc001bku.3_Intron|FAM54B_uc001bkv.3_Missense_Mutation_p.T84I	p.T181I	NM_001099625	NP_001093095	Q9H019	FA54B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)	6	752	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	181					A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.542C>T	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635980	0.67130	.	.	ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.17	6.17	0.99709	.	0.098771	0.64402	D	0.000001	T	0.47655	0.1457	L	0.43152	1.355	0.58432	D	0.999996	P;B;P	0.47034	0.889;0.343;0.713	P;B;B	0.46758	0.526;0.221;0.378	T	0.25257	-1.0137	10	0.45353	T	0.12	-0.8419	20.8794	0.99867	0.0:1.0:0.0:0.0	.	214;169;181	B4DRE5;Q9H019-3;Q9H019	.;.;FA54B_HUMAN	I	181;84;84;169;181;181	ENSP00000363421:T181I;ENSP00000432719:T84I;ENSP00000435193:T84I;ENSP00000363426:T169I;ENSP00000363419:T181I;ENSP00000363418:T181I	ENSP00000363418:T181I	T	+	2	0	FAM54B	26028677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.324000	0.59228	2.941000	0.99782	0.655000	0.94253	ACA		0.478	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557	
CYB5RL	606495	broad.mit.edu	37	1	54653374	54653374	+	Missense_Mutation	SNP	G	G	A	rs371181170		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:54653374G>A	ENST00000534324.1	-	3	385	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CYB5RL_ENST00000419823.2_Missense_Mutation_p.T129M|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000401046.3_De_novo_Start_OutOfFrame|CYB5RL_ENST00000537208.1_Missense_Mutation_p.T129M|CYB5RL_ENST00000542737.1_Missense_Mutation_p.T129M|RP11-446E24.4_ENST00000311841.7_3'UTR|CYB5RL_ENST00000287899.8_Missense_Mutation_p.T129M			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	129	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.						cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCTGATGGGCGTATAGGCTCT	0.483																																						uc009vzo.2																			0					0						c.(385-387)ACG>ATG		cytochrome b5 reductase-like		G	MET/THR	1,3967		0,1,1983	130.0	127.0	128.0		386	4.9	0.9	1		128	0,8326		0,0,4163	no	missense	CYB5RL	NM_001031672.2	81	0,1,6146	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging	129/316	54653374	1,12293	1984	4163	6147	SO:0001583	missense	606495						cytochrome-b5 reductase activity	g.chr1:54653374G>A		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.386C>T	1.37:g.54653374G>A	ENSP00000434343:p.Thr129Met					CYB5RL_uc001cww.2_Translation_Start_Site|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Translation_Start_Site	p.T129M	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN			5	706	-			129			FAD-binding FR-type.		B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	c.386C>T	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108508	0.77096	2.52E-4	0.0	ENSG00000215883	ENST00000419823;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	4.87	4.87	0.63330	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	.	.	.	.	D	0.96876	0.8980	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98032	1.0377	9	0.87932	D	0	.	16.3761	0.83392	0.0:0.0:1.0:0.0	.	129	Q6IPT4	NB5R5_HUMAN	M	129	ENSP00000409075:T129M;ENSP00000434343:T129M;ENSP00000287899:T129M;ENSP00000438151:T129M;ENSP00000443797:T129M	ENSP00000287899:T129M	T	-	2	0	CYB5RL	54425962	1.000000	0.71417	0.944000	0.38274	0.990000	0.78478	6.560000	0.73950	2.533000	0.85409	0.650000	0.86243	ACG		0.483	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672	
TCHH	7062	broad.mit.edu	37	1	152081632	152081632	+	Missense_Mutation	SNP	C	C	T	rs2496251	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:152081632C>T	ENST00000368804.1	-	2	4060	c.4061G>A	c.(4060-4062)cGc>cAc	p.R1354H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1354	23 X 26 AA approximate tandem repeats.			R -> L (in Ref. 1; AAA65582). {ECO:0000305}.	keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGCGGCGCAGCGGCTG	0.567																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4060-4062)CGC>CAC		trichohyalin							138.0	144.0	142.0					1																	152081632		1887	4105	5992	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081632C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4061G>A	1.37:g.152081632C>T	ENSP00000357794:p.Arg1354His					TCHH_uc009wne.1_Missense_Mutation_p.R1354H	p.R1354H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4061	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1354	R -> L (in Ref. 1; AAA65582).		23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4061G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321212	0.23994	.	.	ENSG00000159450	ENST00000368804	T	0.07021	3.23	3.58	1.51	0.23008	.	.	.	.	.	T	0.03136	0.0092	L	0.46157	1.445	0.09310	N	1	D	0.54601	0.967	P	0.44597	0.454	T	0.40079	-0.9582	9	0.42905	T	0.14	-0.0532	5.7184	0.17972	0.1994:0.685:0.0:0.1157	.	1354	Q07283	TRHY_HUMAN	H	1354	ENSP00000357794:R1354H	ENSP00000357794:R1354H	R	-	2	0	TCHH	150348256	0.000000	0.05858	0.037000	0.18230	0.176000	0.22953	-0.923000	0.04000	0.651000	0.30788	0.205000	0.17691	CGC		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
RYR2	6262	broad.mit.edu	37	1	237608770	237608770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:237608770C>T	ENST00000366574.2	+	14	1557	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	RYR2_ENST00000360064.6_Missense_Mutation_p.R412C|RYR2_ENST00000542537.1_Missense_Mutation_p.R398C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	414			R -> L (in CPVT1). {ECO:0000269|PubMed:15466642}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGAATCACGCACAGCCCG	0.393																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	GRCh37	CM065449	RYR2	M		c.(1240-1242)CGC>TGC		cardiac muscle ryanodine receptor							153.0	147.0	149.0					1																	237608770		1924	4138	6062	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237608770C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1240C>T	1.37:g.237608770C>T	ENSP00000355533:p.Arg414Cys						p.R414C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		14	1360	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	414		R -> L (in CPVT1).	Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1240C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156116	0.57259	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97041	-4.22;-4.19;-4.21	5.84	3.85	0.44370	.	0.000000	0.64402	D	0.000014	D	0.96914	0.8992	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	P	0.56278	0.795	D	0.97283	0.9919	10	0.87932	D	0	.	14.7074	0.69200	0.2642:0.7357:0.0:0.0	.	414	Q92736	RYR2_HUMAN	C	414;412;398	ENSP00000355533:R414C;ENSP00000353174:R412C;ENSP00000443798:R398C	ENSP00000353174:R412C	R	+	1	0	RYR2	235675393	1.000000	0.71417	0.970000	0.41538	0.023000	0.10783	4.703000	0.61824	1.444000	0.47605	-0.282000	0.10007	CGC		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
PTEN	5728	broad.mit.edu	37	10	89720812	89720812	+	Frame_Shift_Del	DEL	A	A	-	rs121913291		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr10:89720812delA	ENST00000371953.3	+	8	2320	c.963delA	c.(961-963)acafs	p.T321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(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)		TTACTTTAACAAAAAATGATC	0.323		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		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		72	Whole gene deletion(37)|Deletion - Frameshift(20)|Insertion - Frameshift(9)|Deletion - In frame(4)|Unknown(2)	p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*4(1)|p.T321fs*6(1)	endometrium(18)|prostate(16)|central_nervous_system(12)|skin(7)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(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						c.(961-963)ACAfs		phosphatase and tensin homolog							86.0	87.0	86.0					10																	89720812		2203	4299	6502	SO:0001589	frameshift_variant	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.chr10:89720812delA	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.963delA	10.37:g.89720812delA	ENSP00000361021:p.Thr321fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.T321fs	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)	9	1994	+		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)	321			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.963delA	CCDS31238.1																																																																																				0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MMP26	56547	broad.mit.edu	37	11	5013297	5013297	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:5013297C>T	ENST00000380390.1	+	6	915	c.699C>T	c.(697-699)caC>caT	p.H233H	MMP26_ENST00000300762.1_Silent_p.H233H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	233					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ACTGGTATCACGACCCTAGAA	0.488																																						uc001lzv.2																			0					0						c.(697-699)CAC>CAT		matrix metalloproteinase 26 preproprotein							86.0	77.0	80.0					11																	5013297		2201	4298	6499	SO:0001819	synonymous_variant	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013297C>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.699C>T	11.37:g.5013297C>T							p.H233H	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	717	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	233					Q3MJ78|Q9GZS2|Q9NR87	Silent	SNP	ENST00000380390.1	37	c.699C>T	CCDS7752.1																																																																																				0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	
OR52L1	338751	broad.mit.edu	37	11	6007615	6007615	+	Silent	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:6007615T>C	ENST00000332249.4	-	1	600	c.546A>G	c.(544-546)ggA>ggG	p.G182G		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	182						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(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATAAGTTTTCCCAACAAAA	0.488																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2																			0				central_nervous_system(1)|pancreas(1)	2						c.(544-546)GGA>GGG		olfactory receptor, family 52, subfamily L,							104.0	98.0	100.0					11																	6007615		2008	4164	6172	SO:0001819	synonymous_variant	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007615T>C	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.546A>G	11.37:g.6007615T>C							p.G182G	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	601	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	182			Extracellular (Potential).		B2RPA6|Q6IFK9	Silent	SNP	ENST00000332249.4	37	c.546A>G	CCDS44529.1																																																																																				0.488	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173	
MAP4K2	5871	broad.mit.edu	37	11	64568434	64568434	+	Silent	SNP	C	C	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:64568434C>G	ENST00000294066.2	-	9	691	c.600G>C	c.(598-600)ctG>ctC	p.L200L	MAP4K2_ENST00000377350.3_Silent_p.L200L|MAP4K2_ENST00000468062.1_5'UTR	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGTGATGCCCAGGGCCCAGA	0.622																																						uc001obh.2																			0				ovary(1)|pancreas(1)	2						c.(598-600)CTG>CTC		mitogen-activated protein kinase kinase kinase							92.0	95.0	94.0					11																	64568434		2201	4297	6498	SO:0001819	synonymous_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64568434C>G	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.600G>C	11.37:g.64568434C>G						MAP4K2_uc001obi.2_Silent_p.L200L	p.L200L	NM_004579	NP_004570	Q12851	M4K2_HUMAN			9	692	-			200			Protein kinase.		Q86VU3	Silent	SNP	ENST00000294066.2	37	c.600G>C	CCDS8082.1																																																																																				0.622	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579	
RPL13AP20	387841	broad.mit.edu	37	12	13028632	13028632	+	IGR	SNP	C	C	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:13028632C>A								DDX47 (45717 upstream) : GPRC5A (15083 downstream)																							AGCAACCCTTCCCGAGGCCCC	0.582																																						uc010sho.1																			0					0						c.(199-201)TCC>TAC		SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;																																				SO:0001628	intergenic_variant	387841							g.chr12:13028632C>A																													12.37:g.13028632C>A							p.S67Y	NR_003932						1	222	+									Missense_Mutation	SNP		37	c.200C>A																																																																																				0	0.582								
PTPRB	5787	broad.mit.edu	37	12	70986066	70986066	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:70986066T>G	ENST00000261266.5	-	5	1151	c.1122A>C	c.(1120-1122)agA>agC	p.R374S	PTPRB_ENST00000551525.1_Missense_Mutation_p.R591S|PTPRB_ENST00000550857.1_Missense_Mutation_p.R374S|PTPRB_ENST00000550358.1_Missense_Mutation_p.R592S|PTPRB_ENST00000451516.2_Missense_Mutation_p.R374S|PTPRB_ENST00000538708.1_Missense_Mutation_p.R374S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.R592S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	374	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCACATGTTCTGCCCACTG	0.448																																						uc001swb.3																			0				lung(2)|skin(1)	3						c.(1120-1122)AGA>AGC		protein tyrosine phosphatase, receptor type, B							96.0	93.0	94.0					12																	70986066		1988	4174	6162	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70986066T>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1122A>C	12.37:g.70986066T>G	ENSP00000261266:p.Arg374Ser					PTPRB_uc010sto.1_Missense_Mutation_p.R374S|PTPRB_uc010stp.1_Missense_Mutation_p.R374S|PTPRB_uc001swc.3_Missense_Mutation_p.R592S|PTPRB_uc001swa.3_Missense_Mutation_p.R592S|PTPRB_uc001swd.3_Missense_Mutation_p.R591S|PTPRB_uc009zrr.1_Missense_Mutation_p.R471S|PTPRB_uc001swe.2_Missense_Mutation_p.R592S	p.R374S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		5	1152	-	Renal(347;0.236)		374			Fibronectin type-III 4.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1122A>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907013	0.72868	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55;3.55	5.86	3.52	0.40303	Fibronectin, type III (2);	0.164121	0.53938	D	0.000054	T	0.14056	0.0340	M	0.75615	2.305	0.38547	D	0.94936	P;P;D;D;P;P;P;P	0.60160	0.876;0.876;0.969;0.987;0.934;0.876;0.672;0.934	P;P;P;P;P;P;B;P	0.60609	0.614;0.614;0.869;0.877;0.852;0.614;0.41;0.748	T	0.07673	-1.0760	10	0.26408	T	0.33	.	8.2779	0.31883	0.0:0.2268:0.0:0.7732	.	374;374;471;592;591;592;374;592	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	S	592;374;592;592;374;374;374;591;471	ENSP00000334928:R592S;ENSP00000393028:R374S;ENSP00000448058:R592S;ENSP00000438927:R374S;ENSP00000447302:R374S;ENSP00000261266:R374S;ENSP00000448349:R591S;ENSP00000446982:R471S	ENSP00000261266:R374S	R	-	3	2	PTPRB	69272333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.083000	0.30815	0.484000	0.27630	0.533000	0.62120	AGA		0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	rs199633532		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17348	0.0		0.001	False		,,,				2504	0.0					uc001tza.3																			2	Substitution - Missense(2)		prostate(1)|kidney(1)	central_nervous_system(2)	2	GRCh37	CM067634	ACADS	M		c.(988-990)CGC>CAC		short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)						46.0	52.0	50.0					12																	121176678		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176678G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His					ACADS_uc010szl.1_Missense_Mutation_p.R326H|ACADS_uc001tzb.3_Missense_Mutation_p.R211H	p.R330H	NM_000017	NP_000008	P16219	ACADS_HUMAN			8	1107	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.989G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Splice_Site	SNP	C	C	T	rs3092891	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGTTTGTAGCGATACAAACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	p.?(7)|p.R445*(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.(1333-1335)CGA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18.0	19.0	19.0					13																	48953730		2200	4300	6500	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953730C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	445			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1333C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Nonsense_Mutation
OR4K5	79317	broad.mit.edu	37	14	20389501	20389501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr14:20389501delG	ENST00000315915.4	+	1	761	c.736delG	c.(736-738)gtafs	p.V247fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATTGCAGTAGTAATATT	0.398																																						uc010tkw.1																			0				ovary(1)|skin(1)	2						c.(736-738)GTAfs		olfactory receptor, family 4, subfamily K,							242.0	255.0	250.0					14																	20389501		2203	4300	6503	SO:0001589	frameshift_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389501delG	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.736delG	14.37:g.20389501delG	ENSP00000319511:p.Val247fs						p.V246fs	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	736	+	all_cancers(95;0.00108)		246			Helical; Name=6; (Potential).		Q6IFA7	Frame_Shift_Del	DEL	ENST00000315915.4	37	c.736delG	CCDS32024.1																																																																																				0.398	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483	
HERC2P3	283755	broad.mit.edu	37	15	20649664	20649664	+	RNA	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr15:20649664A>G	ENST00000428453.1	-	0	2534							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCCTGGAGGAGGCCTATCCT	0.577																																						uc001ytg.2																			0											c.(1843-1845)CCT>CCC		RecName: Full=Putative HERC2-like protein 3;							143.0	129.0	134.0					15																	20649664		2191	4275	6466			0							g.chr15:20649664A>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649664A>G						uc010tyx.1_RNA|uc001yth.3_Silent_p.P615P|uc010tyy.1_Silent_p.P615P	p.P615P							18	2554	-									Silent	SNP	ENST00000428453.1	37	c.1845T>C																																																																																					0.577	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
GOLGA6D	653643	broad.mit.edu	37	15	75580661	75580661	+	Missense_Mutation	SNP	C	C	T	rs529829001		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr15:75580661C>T	ENST00000434739.3	+	7	561	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	174						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						AGAATTGGAGCGGGCTCTCTG	0.552													N|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					uc010uma.1																			0					0						c.(520-522)CGG>TGG		golgi autoantigen, golgin subfamily a, 6D							19.0	19.0	19.0					15																	75580661		683	1580	2263	SO:0001583	missense	653643							g.chr15:75580661C>T		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.520C>T	15.37:g.75580661C>T	ENSP00000391085:p.Arg174Trp					uc010umb.1_5'Flank	p.R174W	NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN			7	555	+			174			Potential.			Missense_Mutation	SNP	ENST00000434739.3	37	c.520C>T	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	-	8.390	0.839439	0.16891	.	.	ENSG00000140478	ENST00000434739	T	0.25250	1.81	1.57	0.524	0.17066	.	.	.	.	.	T	0.38665	0.1049	L	0.56124	1.755	0.35692	D	0.814913	D	0.89917	1.0	D	0.73708	0.981	T	0.44436	-0.9328	9	0.54805	T	0.06	.	6.7918	0.23703	0.278:0.7219:0.0:0.0	.	174	P0CG33	GOG6D_HUMAN	W	174	ENSP00000391085:R174W	ENSP00000391085:R174W	R	+	1	2	GOLGA6D	73367714	0.613000	0.27009	0.223000	0.23860	0.193000	0.23685	0.028000	0.13644	0.184000	0.20083	0.186000	0.17326	CGG		0.552	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224	
DECR2	26063	broad.mit.edu	37	16	455001	455001	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:455001C>G	ENST00000219481.5	+	2	264	c.126C>G	c.(124-126)ttC>ttG	p.F42L	DECR2_ENST00000397710.1_Missense_Mutation_p.F42L|DECR2_ENST00000424398.2_Missense_Mutation_p.F42L	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	42					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGATTGGGTTCCGGATTGCTG	0.582																																						uc002chb.2																			0					0						c.(124-126)TTC>TTG		2,4-dienoyl CoA reductase 2							170.0	161.0	164.0					16																	455001		2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:455001C>G	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.126C>G	16.37:g.455001C>G	ENSP00000219481:p.Phe42Leu					DECR2_uc002chc.2_5'UTR|DECR2_uc010bqv.2_5'UTR|DECR2_uc002chd.2_5'UTR|DECR2_uc002che.1_5'Flank	p.F42L	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			2	232	+		Hepatocellular(16;0.00015)	42			NADP (By similarity).		Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.126C>G	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422642	0.62733	.	.	ENSG00000242612	ENST00000219481;ENST00000397710;ENST00000424398	T;T	0.41758	0.99;0.99	4.45	3.49	0.39957	NAD(P)-binding domain (1);	0.051827	0.85682	D	0.000000	T	0.21307	0.0513	N	0.04132	-0.27	0.31733	N	0.636781	B	0.22480	0.07	B	0.26969	0.075	T	0.16394	-1.0404	10	0.35671	T	0.21	.	10.5382	0.45018	0.0:0.904:0.0:0.096	.	42	Q9NUI1	DECR2_HUMAN	L	42	ENSP00000219481:F42L;ENSP00000400374:F42L	ENSP00000219481:F42L	F	+	3	2	DECR2	395002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.201000	0.32259	2.031000	0.59945	0.655000	0.94253	TTC		0.582	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	
ITGAM	3684	broad.mit.edu	37	16	31284722	31284722	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31284722G>A	ENST00000287497.8	+	8	816	c.741G>A	c.(739-741)aaG>aaA	p.K247K	ITGAM_ENST00000544665.3_Silent_p.K247K			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	247	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCCCGAAAGAATGCCTTTA	0.453																																						uc002ebq.2																			0				kidney(1)	1						c.(739-741)AAG>AAA		integrin alpha M isoform 2 precursor							131.0	120.0	123.0					16																	31284722		1929	4136	6065	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31284722G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.741G>A	16.37:g.31284722G>A						ITGAM_uc002ebr.2_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank	p.K247K	NM_000632	NP_000623	P11215	ITAM_HUMAN			8	839	+			247			VWFA.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.741G>A	CCDS45470.1																																																																																				0.453	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ITGAM	3684	broad.mit.edu	37	16	31286937	31286937	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31286937G>A	ENST00000287497.8	+	9	1001	c.926G>A	c.(925-927)cGt>cAt	p.R309H	ITGAM_ENST00000544665.3_Missense_Mutation_p.R309H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	309	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGCCGCCTCGTGATCACGTG	0.512																																						uc002ebq.2																			0				kidney(1)	1						c.(925-927)CGT>CAT		integrin alpha M isoform 2 precursor							94.0	96.0	95.0					16																	31286937		2027	4204	6231	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31286937G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.926G>A	16.37:g.31286937G>A	ENSP00000287497:p.Arg309His					ITGAM_uc002ebr.2_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_Translation_Start_Site	p.R309H	NM_000632	NP_000623	P11215	ITAM_HUMAN			9	1024	+			309			VWFA.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.926G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977138	0.34848	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.22336	1.96;1.96	4.51	-3.79	0.04320	von Willebrand factor, type A (3);	.	.	.	.	T	0.11495	0.0280	L	0.32530	0.975	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.32481	-0.9905	9	0.35671	T	0.21	.	2.2694	0.04086	0.4517:0.2623:0.171:0.1149	.	309;309	Q4VAK1;P11215	.;ITAM_HUMAN	H	309	ENSP00000441691:R309H;ENSP00000287497:R309H	ENSP00000287497:R309H	R	+	2	0	ITGAM	31194438	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.464000	0.06688	-0.565000	0.06061	-0.291000	0.09656	CGT		0.512	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ATP2A3	489	broad.mit.edu	37	17	3850757	3850757	+	Silent	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:3850757G>T	ENST00000352011.3	-	8	1077	c.1023C>A	c.(1021-1023)acC>acA	p.T341T	ATP2A3_ENST00000309890.7_Silent_p.T341T|ATP2A3_ENST00000397041.3_Silent_p.T341T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.T341T|ATP2A3_ENST00000397043.3_Silent_p.T341T|ATP2A3_ENST00000397035.3_Silent_p.T341T			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	341					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCAGCCCAGGGTCTCCACGG	0.647																																					GBM(32;29 774 15719 37967)	uc002fxb.1																			0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1021-1023)ACC>ACA		ATPase, Ca++ transporting, ubiquitous isoform b							96.0	76.0	82.0					17																	3850757		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3850757G>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1023C>A	17.37:g.3850757G>T						ATP2A3_uc002fwx.1_Silent_p.T341T|ATP2A3_uc002fwy.1_Silent_p.T341T|ATP2A3_uc002fwz.1_Silent_p.T341T|ATP2A3_uc002fxa.1_Silent_p.T341T|ATP2A3_uc002fxc.1_Silent_p.T341T|ATP2A3_uc002fxd.1_Silent_p.T341T	p.T341T	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	1174	-			341			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1023C>A	CCDS11041.1																																																																																				0.647	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
TP53	7157	broad.mit.edu	37	17	7576926	7576927	+	Splice_Site	DNP	GC	GC	AT	rs587781702		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:7576926_7576927GC>AT	ENST00000269305.4	-	9	1109	c.920_920GC>AT	c.(919-921)gGCc>gATcc	p.G307D	TP53_ENST00000420246.2_Splice_Site_p.G307D|TP53_ENST00000445888.2_Splice_Site_p.G307D|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site_p.G307D|TP53_ENST00000359597.4_Splice_Site_p.G307D|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	307	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGGGCAGTGCTAGGAAAGAG	0.49		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		31	Unknown(20)|Whole gene deletion(8)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.?(16)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(1)	upper_aerodigestive_tract(7)|ovary(5)|central_nervous_system(4)|bone(4)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e9-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576926_7576927GC>AT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.920_920delinsAT	17.37:g.7576926_7576927delinsAT		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_5'UTR|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice	p.A307_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1114	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	DNP	ENST00000269305.4	37	c.920_splice	CCDS11118.1																																																																																				0.490	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation
MYH8	4626	broad.mit.edu	37	17	10315706	10315706	+	Missense_Mutation	SNP	G	G	A	rs554419599		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:10315706G>A	ENST00000403437.2	-	14	1491	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	466	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCAAAGCCAGCAATGTCCAA	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G|||	1	0.000199681	0.0008	0.0	5008	,	,		20000	0.0		0.0	False		,,,				2504	0.0					uc002gmm.2																			0				skin(6)|ovary(3)|breast(2)	11						c.(1396-1398)GCT>GTT		myosin, heavy chain 8, skeletal muscle,							155.0	156.0	155.0					17																	10315706		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315706G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1397C>T	17.37:g.10315706G>A	ENSP00000384330:p.Ala466Val					uc002gml.1_Intron	p.A466V	NM_002472	NP_002463	P13535	MYH8_HUMAN			14	1492	-			466			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1397C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009350	0.93346	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.72282	-0.64	4.81	4.81	0.61882	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000883	D	0.90868	0.7131	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94672	0.7857	10	0.87932	D	0	.	18.0694	0.89400	0.0:0.0:1.0:0.0	.	466	P13535	MYH8_HUMAN	V	466	ENSP00000384330:A466V	ENSP00000252173:A466V	A	-	2	0	MYH8	10256431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.598000	0.98277	2.502000	0.84385	0.650000	0.86243	GCT		0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
ACSF2	80221	broad.mit.edu	37	17	48540562	48540562	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:48540562A>G	ENST00000300441.4	+	7	942	c.838A>G	c.(838-840)Att>Gtt	p.I280V	ACSF2_ENST00000502667.1_Missense_Mutation_p.I267V|ACSF2_ENST00000504392.1_Missense_Mutation_p.I237V|ACSF2_ENST00000427954.2_Missense_Mutation_p.I305V|ACSF2_ENST00000541920.1_Missense_Mutation_p.I120V	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	280					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCACTACAACATTGTCAACAA	0.597																																						uc002iqu.2																			0					0						c.(838-840)ATT>GTT		acyl-CoA synthetase family member 2 precursor							100.0	107.0	104.0					17																	48540562		2203	4300	6503	SO:0001583	missense	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48540562A>G	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.838A>G	17.37:g.48540562A>G	ENSP00000300441:p.Ile280Val					ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmm.1_Missense_Mutation_p.I305V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V	p.I280V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		7	942	+	Breast(11;1.93e-18)		280					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	c.838A>G	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543848	0.65198	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.2	5.2	0.72013	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.58810	1.83	0.54753	D	0.999983	P;P;P;P	0.50710	0.891;0.938;0.891;0.891	P;P;P;P	0.55303	0.669;0.773;0.669;0.669	T	0.51529	-0.8694	10	0.35671	T	0.21	-16.0505	15.0828	0.72127	1.0:0.0:0.0:0.0	.	267;305;237;280	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	V	280;120;237;305;267	ENSP00000300441:I280V;ENSP00000437987:I120V;ENSP00000425964:I237V;ENSP00000401831:I305V;ENSP00000421884:I267V	ENSP00000300441:I280V	I	+	1	0	ACSF2	45895561	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.207000	0.51106	1.961000	0.56991	0.460000	0.39030	ATT		0.597	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149	
RAVER1	125950	broad.mit.edu	37	19	10434237	10434237	+	Silent	SNP	C	C	T	rs550383395		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr19:10434237C>T	ENST00000293677.6	-	4	894	c.813G>A	c.(811-813)gcG>gcA	p.A271A	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTGGCCGCACGCCAGCTGCC	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18180	0.0		0.0	False		,,,				2504	0.0					uc002moa.2																			0				ovary(1)	1						c.(811-813)GCG>GCA		RAVER1							23.0	27.0	26.0					19																	10434237		2187	4276	6463	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434237C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.813G>A	19.37:g.10434237C>T							p.A271A	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	893	-			254			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.813G>A	CCDS45960.1																																																																																				0.652	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452	
SPTBN1	6711	broad.mit.edu	37	2	54756736	54756736	+	Intron	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:54756736T>C	ENST00000356805.4	+	2	429				AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCACTGAGTTTGCCATGAAG	0.483																																						uc010yot.1																			0					0						c.(253-255)TTT>TCT		SubName: Full=Putative uncharacterized protein DKFZp547I014;																																				SO:0001627	intron_variant	56969							g.chr2:54756736T>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+3033T>C	2.37:g.54756736T>C						SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron	p.F85S	NR_002229						1	378	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.254T>C	CCDS33198.1																																																																																				0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
SLC5A7	60482	broad.mit.edu	37	2	108626770	108626770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:108626770C>T	ENST00000264047.2	+	9	1472	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	SLC5A7_ENST00000540517.1_Missense_Mutation_p.T294M|SLC5A7_ENST00000409059.1_Missense_Mutation_p.T399M	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	399					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCCTTGCTGACGAAAACTGTG	0.463																																						uc002tdv.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1195-1197)ACG>ATG		solute carrier family 5 (choline transporter),	Choline(DB00122)						234.0	183.0	200.0					2																	108626770		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626770C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1196C>T	2.37:g.108626770C>T	ENSP00000264047:p.Thr399Met					SLC5A7_uc010ywm.1_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.2_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.1_Missense_Mutation_p.T286M	p.T399M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1472	+			399			Cytoplasmic (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1196C>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623240	0.66901	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88046	-2.33;-2.33;-2.33	5.95	5.08	0.68730	.	0.090921	0.85682	D	0.000000	D	0.87861	0.6284	L	0.43152	1.355	0.47009	D	0.999281	P	0.42871	0.792	P	0.50109	0.631	D	0.88455	0.3051	10	0.59425	D	0.04	-20.9052	15.2379	0.73447	0.0:0.933:0.0:0.067	.	399	Q9GZV3	SC5A7_HUMAN	M	399;294;399	ENSP00000387346:T399M;ENSP00000445351:T294M;ENSP00000264047:T399M	ENSP00000264047:T399M	T	+	2	0	SLC5A7	107993202	1.000000	0.71417	0.023000	0.16930	0.755000	0.42902	7.818000	0.86416	1.538000	0.49270	0.650000	0.86243	ACG		0.463	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
LRP2	4036	broad.mit.edu	37	2	170007505	170007505	+	Missense_Mutation	SNP	G	G	A	rs570499038		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:170007505G>A	ENST00000263816.3	-	68	12778	c.12493C>T	c.(12493-12495)Cgc>Tgc	p.R4165C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4165					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R4165C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACCTCAATGCGTTTATTCTTG	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21127	0.0		0.0	False		,,,				2504	0.0					uc002ues.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12493-12495)CGC>TGC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						180.0	159.0	166.0					2																	170007505		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170007505G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12493C>T	2.37:g.170007505G>A	ENSP00000263816:p.Arg4165Cys						p.R4165C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	68	12706	-			4165			Extracellular (Potential).|LDL-receptor class B 35.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12493C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369471	0.61624	.	.	ENSG00000081479	ENST00000263816	D	0.84370	-1.84	5.86	4.97	0.65823	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.92270	0.7548	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93204	0.6594	10	0.72032	D	0.01	.	16.4444	0.83913	0.0:0.0:0.8676:0.1324	.	4165	P98164	LRP2_HUMAN	C	4165	ENSP00000263816:R4165C	ENSP00000263816:R4165C	R	-	1	0	LRP2	169715751	1.000000	0.71417	0.788000	0.31933	0.490000	0.33462	1.609000	0.36858	1.468000	0.48064	0.655000	0.94253	CGC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179498764	179498764	+	Silent	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:179498764T>C	ENST00000591111.1	-	181	37763	c.37539A>G	c.(37537-37539)aaA>aaG	p.K12513K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.K5214K|TTN_ENST00000460472.2_Silent_p.K5089K|TTN_ENST00000342175.6_Silent_p.K5281K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.K14154K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.K11586K			Q8WZ42	TITIN_HUMAN	titin	12513	Ig-like 83.				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)			TTTCACCTTCTTTTACTGTTT	0.358																																						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.(34756-34758)AAA>AAG		titin isoform N2-A							132.0	124.0	126.0					2																	179498764		1866	4096	5962	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498764T>C	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.37539A>G	2.37:g.179498764T>C						TTN_uc010zfh.1_Silent_p.K5281K|TTN_uc010zfi.1_Silent_p.K5214K|TTN_uc010zfj.1_Silent_p.K5089K	p.K11586K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		180	34982	-			12513					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	Silent	SNP	ENST00000591111.1	37	c.34758A>G																																																																																					0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAJC10	54431	broad.mit.edu	37	2	183584858	183584858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:183584858G>A	ENST00000264065.7	+	4	744	c.329G>A	c.(328-330)gGc>gAc	p.G110D	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.G110D	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	110					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATCAAGGTGGCCAGTATGAA	0.308																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(328-330)GGC>GAC		DnaJ (Hsp40) homolog, subfamily C, member 10							173.0	165.0	168.0					2																	183584858		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183584858G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.329G>A	2.37:g.183584858G>A	ENSP00000264065:p.Gly110Asp					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_RNA	p.G110D	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		4	744	+			110					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.329G>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149185	0.78001	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.74315	-0.83;-0.83	5.87	5.87	0.94306	Heat shock protein DnaJ, N-terminal (1);	0.106561	0.64402	D	0.000004	D	0.83445	0.5256	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.63283	0.737;0.913	T	0.83269	-0.0044	10	0.59425	D	0.04	.	20.1985	0.98248	0.0:0.0:1.0:0.0	.	110;110	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	D	110	ENSP00000264065:G110D;ENSP00000441560:G110D	ENSP00000264065:G110D	G	+	2	0	DNAJC10	183293103	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.729000	0.98795	2.767000	0.95098	0.563000	0.77884	GGC		0.308	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
TNS1	7145	broad.mit.edu	37	2	218712554	218712554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:218712554G>A	ENST00000171887.4	-	17	2763	c.2311C>T	c.(2311-2313)Cat>Tat	p.H771Y	TNS1_ENST00000430930.1_Missense_Mutation_p.H771Y|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.H771Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	771					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCAACGAATGCCCACTGGGG	0.607																																						uc002vgt.2																			0				ovary(3)|breast(1)	4						c.(2311-2313)CAT>TAT		tensin							25.0	27.0	26.0					2																	218712554		2202	4300	6502	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712554G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2311C>T	2.37:g.218712554G>A	ENSP00000171887:p.His771Tyr					TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y	p.H771Y	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2709	-		Renal(207;0.0483)|Lung NSC(271;0.213)	771					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2311C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	1.237	-0.622539	0.03636	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.91124	-2.78;-2.78;-2.79	4.0	3.11	0.35812	.	0.904176	0.09671	N	0.771076	D	0.82742	0.5103	N	0.19112	0.55	0.09310	N	0.999998	B;B;B;B;B	0.29955	0.001;0.263;0.263;0.263;0.263	B;B;B;B;B	0.24974	0.001;0.057;0.057;0.04;0.057	T	0.64546	-0.6382	10	0.15499	T	0.54	.	13.8016	0.63204	0.0:0.1543:0.8457:0.0	.	771;825;771;771;771	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	Y	771	ENSP00000171887:H771Y;ENSP00000408724:H771Y;ENSP00000406016:H771Y	ENSP00000171887:H771Y	H	-	1	0	TNS1	218420799	0.998000	0.40836	0.460000	0.27093	0.245000	0.25701	3.506000	0.53364	0.855000	0.35359	0.462000	0.41574	CAT		0.607	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
ABCB6	10058	broad.mit.edu	37	2	220080773	220080773	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:220080773C>T	ENST00000265316.3	-	5	1416	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	ABCB6_ENST00000439002.2_Missense_Mutation_p.G321E	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	367	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCCCCTGTGCGGCG	0.672																																						uc002vkc.1																			0				breast(1)|central_nervous_system(1)	2						c.(1099-1101)GGG>GAG		ATP-binding cassette, sub-family B, member 6							20.0	23.0	22.0					2																	220080773		2202	4299	6501	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220080773C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1100G>A	2.37:g.220080773C>T	ENSP00000265316:p.Gly367Glu					ABCB6_uc010fwe.1_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron	p.G367E	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1377	-		Renal(207;0.0474)	367			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1100G>A	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.464401|5.464401	0.96257|0.96257	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|D	0.97752|0.97772	-4.52;-4.52|-4.53	5.08|5.08	5.08|5.08	0.68730|0.68730	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99333|0.99333	0.9766|0.9766	H|H	0.98559|0.98559	4.265|4.265	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.98444|0.98444	1.0588|1.0588	10|8	0.87932|0.87932	D|D	0|0	-25.1013|-25.1013	19.0333|19.0333	0.92967|0.92967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	321;367|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	E|R	367;321|215	ENSP00000265316:G367E;ENSP00000394333:G321E|ENSP00000295750:G215R	ENSP00000265316:G367E|ENSP00000295750:G215R	G|G	-|-	2|1	0|0	ABCB6|ABCB6	219789017|219789017	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	7.471000|7.471000	0.80985|0.80985	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.672	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
ITSN1	6453	broad.mit.edu	37	21	35230998	35230998	+	Silent	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:35230998A>G	ENST00000381318.3	+	31	4080	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.Q1259Q|ITSN1_ENST00000399367.3_Silent_p.Q1259Q|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.Q1264Q	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1264	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGATTTTTCAAAAACCCCTGA	0.428																																						uc002yta.1																			0				ovary(3)|skin(1)	4						c.(3790-3792)CAA>CAG		intersectin 1 isoform ITSN-l							86.0	92.0	90.0					21																	35230998		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35230998A>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3792A>G	21.37:g.35230998A>G						DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_RNA	p.Q1264Q	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			31	4060	+			1264			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3792A>G	CCDS33545.1																																																																																				0.428	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
UMODL1	89766	broad.mit.edu	37	21	43524017	43524017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:43524017C>T	ENST00000408910.2	+	9	1339	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	UMODL1_ENST00000400427.1_Nonsense_Mutation_p.R375*|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.R447*|C21orf128_ENST00000329015.2_Silent_p.S72S|UMODL1_ENST00000400424.2_Nonsense_Mutation_p.R375*	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	447	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.		R -> Q (in dbSNP:rs146310440). {ECO:0000269|PubMed:16026467}.		adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGACTTGTACCGAAGTGGGAA	0.562																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			0				ovary(2)|skin(1)	3						c.(1339-1341)CGA>TGA		uromodulin-like 1 isoform 1 precursor							221.0	171.0	188.0					21																	43524017		2203	4300	6503	SO:0001587	stop_gained	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524017C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1339C>T	21.37:g.43524017C>T	ENSP00000386147:p.Arg447*					UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zag.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S	p.R447*	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			9	1339	+			447		R -> Q.	Extracellular (Potential).|SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	37	c.1339C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489522	0.96323	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	3.49	-4.27	0.03744	.	0.771626	0.11027	N	0.607682	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2488	13.7618	0.62971	0.3354:0.6646:0.0:0.0	.	.	.	.	X	375;375;447;447	.	ENSP00000383276:R375X	R	+	1	2	UMODL1	42397086	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.270000	0.08584	-0.853000	0.04136	-0.169000	0.13324	CGA		0.562	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
KRTAP10-3	386682	broad.mit.edu	37	21	45978434	45978434	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:45978434G>A	ENST00000391620.1	-	1	209	c.165C>T	c.(163-165)agC>agT	p.S55S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	55	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCAGCAGGGGCTGGACACAC	0.711																																						uc002zfj.1																			0				skin(1)	1						c.(163-165)AGC>AGT		keratin associated protein 10-3							33.0	35.0	34.0					21																	45978434		2180	4277	6457	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978434G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.165C>T	21.37:g.45978434G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S55S	NM_198696	NP_941969	P60369	KR103_HUMAN			1	210	-			55			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.165C>T	CCDS42956.1																																																																																				0.711	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1		
LZTR1	8216	broad.mit.edu	37	22	21351542	21351542	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr22:21351542C>T	ENST00000215739.8	+	21	2787	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	LZTR1_ENST00000389355.3_Missense_Mutation_p.R791W|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	810					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R810W(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCCACCCTGCGGTCGCTGAG	0.642																																						uc002zto.2																			1	Substitution - Missense(1)		endometrium(1)	ovary(2)|lung(2)	4						c.(2428-2430)CGG>TGG		leucine-zipper-like transcription regulator 1							69.0	63.0	65.0					22																	21351542		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21351542C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2428C>T	22.37:g.21351542C>T	ENSP00000215739:p.Arg810Trp					LZTR1_uc002ztn.2_Missense_Mutation_p.R769W|LZTR1_uc011ahy.1_Missense_Mutation_p.R791W|LZTR1_uc002ztp.2_3'UTR	p.R810W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		21	2531	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	810					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.2428C>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771119	0.90108	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.59083	0.69;0.29	5.52	4.48	0.54585	.	0.060476	0.64402	D	0.000002	T	0.70771	0.3262	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.952;0.992	T	0.73675	-0.3908	10	0.87932	D	0	-33.1672	13.3681	0.60696	0.1587:0.8413:0.0:0.0	.	791;810;769	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	W	769;810;791	ENSP00000215739:R810W;ENSP00000374006:R791W	ENSP00000215739:R810W	R	+	1	2	LZTR1	19681542	1.000000	0.71417	0.793000	0.32043	0.808000	0.45660	3.875000	0.56108	1.284000	0.44531	0.563000	0.77884	CGG		0.642	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
KDR	3791	broad.mit.edu	37	4	55976857	55976857	+	Missense_Mutation	SNP	G	G	A	rs151317075	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:55976857G>A	ENST00000263923.4	-	8	1350	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	352	Ig-like C2-type 4.				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)	p.A352V(1)		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)	AAGGTACTTCGCAGGGATTCT	0.413			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			A|||	8	0.00159744	0.0061	0.0	5008	,	,		16151	0.0		0.0	False		,,,				2504	0.0					uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)	p.A352V(1)	central_nervous_system(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1054-1056)GCG>GTG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)	A	VAL/ALA	22,4382	814.8+/-416.2	0,22,2180	78.0	86.0	83.0		1055	4.5	1.0	4	dbSNP_134	83	0,8600		0,0,4300	yes	missense	KDR	NM_002253.2	64	0,22,6480	AA,AG,GG		0.0,0.4995,0.1692	benign	352/1357	55976857	22,12982	2202	4300	6502	SO:0001583	missense	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.chr4:55976857G>A	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.1055C>T	4.37:g.55976857G>A	ENSP00000263923:p.Ala352Val	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.1_Missense_Mutation_p.A352V	p.A352V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		8	1357	-	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)		352			Ig-like C2-type 4.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1055C>T	CCDS3497.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	3.343	-0.134124	0.06711	0.004995	0.0	ENSG00000128052	ENST00000263923	T	0.78707	-1.2	5.65	4.49	0.54785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060061	0.64402	N	0.000003	T	0.45975	0.1369	N	0.01809	-0.71	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38735	-0.9647	10	0.02654	T	1	.	8.5333	0.33349	0.8492:0.0:0.1508:0.0	.	352;352	P35968-2;P35968	.;VGFR2_HUMAN	V	352	ENSP00000263923:A352V	ENSP00000263923:A352V	A	-	2	0	KDR	55671614	1.000000	0.71417	0.999000	0.59377	0.394000	0.30568	4.894000	0.63206	0.976000	0.38417	-0.360000	0.07572	GCG		0.413	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
TMPRSS11A	339967	broad.mit.edu	37	4	68784698	68784698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:68784698delG	ENST00000334830.7	-	8	1700	c.954delC	c.(952-954)tacfs	p.Y319fs	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.Y315fs|TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.Y316fs			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	319	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CACCACCATAGTAAAGTGCTC	0.453																																					NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1																			0				skin(1)	1						c.(952-954)TACfs		transmembrane protease, serine 11A isoform 1							141.0	140.0	140.0					4																	68784698		2203	4300	6503	SO:0001589	frameshift_variant	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784698delG	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.954delC	4.37:g.68784698delG	ENSP00000334611:p.Tyr319fs					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs	p.Y318fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			8	1075	-			318			Peptidase S1.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	ENST00000334830.7	37	c.954delC	CCDS3519.1																																																																																				0.453	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606	
UGT2B11	10720	broad.mit.edu	37	4	70079996	70079996	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70079996A>G	ENST00000446444.1	-	1	453	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	149					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATCTGCAAAAACGATGTCA	0.383																																						uc003heh.2																			0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(445-447)TTT>CTT		UDP glucuronosyltransferase 2 family,							118.0	116.0	117.0					4																	70079996		2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079996A>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.445T>C	4.37:g.70079996A>G	ENSP00000387683:p.Phe149Leu					uc003hei.1_Intron	p.F149L	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	454	-			149					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.445T>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.387167	0.00202	.	.	ENSG00000213759	ENST00000446444	T	0.58358	0.34	1.96	1.05	0.20165	.	0.588497	0.14602	N	0.309552	T	0.14917	0.0360	N	0.01048	-1.04	0.23550	N	0.997433	B	0.02656	0.0	B	0.06405	0.002	T	0.30357	-0.9981	10	0.02654	T	1	.	3.1787	0.06577	0.1893:0.2804:0.5303:0.0	.	149	O75310	UDB11_HUMAN	L	149	ENSP00000387683:F149L	ENSP00000387683:F149L	F	-	1	0	UGT2B11	70114585	0.000000	0.05858	0.015000	0.15790	0.025000	0.11179	-1.941000	0.01542	0.149000	0.19098	0.155000	0.16302	TTT		0.383	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
UGT2B28	54490	broad.mit.edu	37	4	70156481	70156481	+	Missense_Mutation	SNP	C	C	T	rs371664274		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70156481C>T	ENST00000335568.5	+	5	1264	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	421					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S421L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CACACAATGTCGAGTACAGAC	0.423													N|||	1	0.000199681	0.0	0.0	5008	,	,		13925	0.001		0.0	False		,,,				2504	0.0					uc003hej.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1261-1263)TCG>TTG		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)	C	LEU/SER,	1,4087		0,1,2043	118.0	126.0	124.0		1262,	1.9	0.1	4		124	0,8472		0,0,4236	no	missense,intron	UGT2B28	NM_053039.1,NM_001207004.1	145,	0,1,6279	TT,TC,CC		0.0,0.0245,0.0080	probably-damaging,	421/530,	70156481	1,12559	2044	4236	6280	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156481C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1262C>T	4.37:g.70156481C>T	ENSP00000334276:p.Ser421Leu					UGT2B28_uc010ihr.2_Intron	p.S421L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1264	+			421					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1262C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	13.36	2.212865	0.39102	2.45E-4	0.0	ENSG00000135226	ENST00000335568	T	0.63417	-0.04	1.85	1.85	0.25348	.	0.725983	0.11792	U	0.529079	T	0.80019	0.4547	M	0.93150	3.385	0.09310	N	0.999992	D	0.76494	0.999	D	0.64776	0.929	T	0.65837	-0.6071	10	0.87932	D	0	.	6.2527	0.20856	0.0:0.6811:0.3188:0.0	.	421	Q9BY64	UDB28_HUMAN	L	421	ENSP00000334276:S421L	ENSP00000334276:S421L	S	+	2	0	UGT2B28	70191070	0.011000	0.17503	0.149000	0.22428	0.022000	0.10575	0.069000	0.14552	1.023000	0.39654	0.184000	0.17185	TCG		0.423	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	rs553885967		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																						uc003hxe.1																			1	Substitution - Missense(1)		prostate(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(1207-1209)GTG>ATG		tachykinin receptor 3							235.0	217.0	223.0					4																	104511030		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511030C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	4.37:g.104511030C>T	ENSP00000303325:p.Val403Met						p.V403M	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1350	-		Hepatocellular(203;0.217)	403			Cytoplasmic (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1207G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
NADK2	133686	broad.mit.edu	37	5	36197710	36197710	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:36197710A>T	ENST00000381937.4	-	11	1122	c.1123T>A	c.(1123-1125)Ttc>Atc	p.F375I	NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000397338.1_Missense_Mutation_p.F212I|NADK2_ENST00000514504.1_Missense_Mutation_p.F343I|NADK2_ENST00000506945.1_Missense_Mutation_p.F234I|NADK2_ENST00000282512.3_Missense_Mutation_p.F212I	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	375					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										CGAATACTGAAAAGTATTTTT	0.353																																						uc003jkf.3																			0					0						c.(1123-1125)TTC>ATC		hypothetical protein LOC133686 isoform 1							100.0	92.0	95.0					5																	36197710		2203	4300	6503	SO:0001583	missense	133686						NAD+ kinase activity	g.chr5:36197710A>T	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.1123T>A	5.37:g.36197710A>T	ENSP00000371362:p.Phe375Ile					C5orf33_uc003jke.3_RNA|C5orf33_uc010iux.2_Missense_Mutation_p.F180I|C5orf33_uc003jkg.3_Missense_Mutation_p.F212I|C5orf33_uc011cov.1_Missense_Mutation_p.F234I	p.F375I	NM_001085411	NP_001078880	Q4G0N4	NAKD1_HUMAN	Epithelial(62;0.0254)|all cancers(62;0.0805)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1123	-	all_lung(31;5.63e-05)		375					B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	ENST00000381937.4	37	c.1123T>A	CCDS47197.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.408159|4.408159	0.83340|0.83340	.|.	.|.	ENSG00000152620|ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945;ENST00000514504|ENST00000502355	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	ATP-NAD kinase, PpnK-type, all-beta (1);|.	0.094233|0.094233	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46457|.	0.716;0.878;0.728|.	B;B;B|.	0.44108|.	0.311;0.441;0.196|.	T|T	0.78521|0.78521	-0.2172|-0.2172	9|6	0.72032|.	D|.	0.01|.	-12.2541|-12.2541	15.7872|15.7872	0.78315|0.78315	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	234;343;375|.	B7Z8V7;Q4G0N4-2;Q4G0N4|.	.;.;NAKD1_HUMAN|.	I|L	212;212;375;234;343|69	.|.	ENSP00000282512:F212I|.	F|F	-|-	1|3	0|2	NADKD1|NADKD1	36233467|36233467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.395000|8.395000	0.90188|0.90188	2.182000|2.182000	0.69389|0.69389	0.482000|0.482000	0.46254|0.46254	TTC|TTT		0.353	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013	
ADAMTS19	171019	broad.mit.edu	37	5	129037232	129037232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:129037232C>T	ENST00000274487.4	+	20	3233	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1030	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCTGCCCAGCGCTGTGAGGG	0.592																																						uc003kvb.1																			0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(3088-3090)CGC>TGC		ADAM metallopeptidase with thrombospondin type 1							75.0	68.0	71.0					5																	129037232		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037232C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3088C>T	5.37:g.129037232C>T	ENSP00000274487:p.Arg1030Cys					ADAMTS19_uc010jdh.1_RNA	p.R1030C	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3088	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1030			TSP type-1 3.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3088C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519990	0.64634	.	.	ENSG00000145808	ENST00000274487	T	0.52983	0.64	4.0	3.13	0.36017	.	0.209202	0.33712	N	0.004637	T	0.59715	0.2214	M	0.70842	2.15	0.58432	D	0.999991	D	0.69078	0.997	P	0.57548	0.823	T	0.62891	-0.6758	9	.	.	.	.	12.6115	0.56554	0.0:0.9173:0.0:0.0827	.	1030	Q8TE59	ATS19_HUMAN	C	1030	ENSP00000274487:R1030C	.	R	+	1	0	ADAMTS19	129065131	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.356000	0.44116	1.273000	0.44346	0.650000	0.86243	CGC		0.592	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
SLC22A5	6584	broad.mit.edu	37	5	131728210	131728210	+	Silent	SNP	C	C	T	rs374662740		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:131728210C>T	ENST00000245407.3	+	8	1574	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Silent_p.A475A	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	451					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TGTACACAGCCGAGCTGTATC	0.532																																						uc003kww.3																			0					0						c.(1351-1353)GCC>GCT		solute carrier family 22 member 5	L-Carnitine(DB00583)	C		0,4406		0,0,2203	180.0	153.0	162.0		1353	-8.7	0.5	5		162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC22A5	NM_003060.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		451/558	131728210	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131728210C>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1353C>T	5.37:g.131728210C>T						SLC22A5_uc003kwx.3_Silent_p.A475A|SLC22A5_uc010jdr.1_Silent_p.A71A	p.A451A	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1617	+		all_cancers(142;0.0751)|Breast(839;0.198)	451			Helical; Name=10; (Potential).		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	c.1353C>T	CCDS4154.1																																																																																				0.532	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060	
ZNF76	7629	broad.mit.edu	37	6	35255444	35255444	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:35255444T>C	ENST00000373953.3	+	5	520	c.254T>C	c.(253-255)cTg>cCg	p.L85P	ZNF76_ENST00000440666.2_Missense_Mutation_p.L59P|ZNF76_ENST00000339411.5_Missense_Mutation_p.L85P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	85	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCAGCACCCTGGAAGCCGTC	0.577																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1																			0					0						c.(253-255)CTG>CCG		zinc finger protein 76 (expressed in testis)							93.0	82.0	86.0					6																	35255444		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255444T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.254T>C	6.37:g.35255444T>C	ENSP00000363064:p.Leu85Pro					ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.1_Missense_Mutation_p.L85P	p.L85P	NM_003427	NP_003418	P36508	ZNF76_HUMAN			5	459	+			85			3 X 12 AA approximate repeats.		Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.254T>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828826	0.32329	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.12569	2.76;2.68;2.79;2.67	5.29	5.29	0.74685	.	0.000000	0.33834	N	0.004512	T	0.19208	0.0461	L	0.46157	1.445	0.58432	D	0.999999	D;D;P;P	0.89917	0.988;1.0;0.514;0.612	P;D;B;B	0.77004	0.758;0.989;0.246;0.121	T	0.00829	-1.1549	10	0.87932	D	0	.	10.5858	0.45282	0.0:0.0774:0.0:0.9226	.	85;85;85;85	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	P	85;85;85;85;59;85	ENSP00000419106:L85P;ENSP00000363064:L85P;ENSP00000392243:L59P;ENSP00000344097:L85P	ENSP00000229405:L85P	L	+	2	0	ZNF76	35363422	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	5.775000	0.68915	2.214000	0.71695	0.533000	0.62120	CTG		0.577	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427	
DAAM2	23500	broad.mit.edu	37	6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:39864627G>A	ENST00000398904.2	+	20	2563	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.R794H|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R794H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	794	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGCAGCAAGCGTCTTAGACAG	0.612																																						uc003oow.2																			0				ovary(2)|skin(1)	3						c.(2380-2382)CGT>CAT		dishevelled associated activator of							26.0	31.0	29.0					6																	39864627		2009	4168	6177	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39864627G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2381G>A	6.37:g.39864627G>A	ENSP00000381876:p.Arg794His					DAAM2_uc003oox.2_Missense_Mutation_p.R794H	p.R794H	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			20	2537	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		794			FH2.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.2381G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069405	0.55539	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17213	2.29;2.29;2.29	4.79	3.9	0.45041	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.065703	0.56097	D	0.000023	T	0.08403	0.0209	L	0.58583	1.82	0.80722	D	1	P;P	0.47762	0.9;0.68	B;B	0.37346	0.247;0.189	T	0.04400	-1.0954	10	0.49607	T	0.09	.	9.6458	0.39865	0.1611:0.0:0.8389:0.0	.	794;794	G5EA45;Q86T65	.;DAAM2_HUMAN	H	794	ENSP00000274867:R794H;ENSP00000381876:R794H;ENSP00000437808:R794H	ENSP00000274867:R794H	R	+	2	0	DAAM2	39972605	0.999000	0.42202	0.969000	0.41365	0.971000	0.66376	3.252000	0.51461	2.492000	0.84095	0.561000	0.74099	CGT		0.612	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
PRPH2	5961	broad.mit.edu	37	6	42672106	42672106	+	Silent	SNP	G	G	A	rs62645937|rs201249148		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:42672106G>A	ENST00000230381.5	-	2	1064	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	275					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCCTACCTCGAAGAGCCAAA	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14678	0.0		0.0	False		,,,				2504	0.0					uc003osk.2																			0				ovary(4)|central_nervous_system(1)	5	GRCh37	CD972427	PRPH2	D		c.(823-825)TTC>TTT		peripherin 2							41.0	36.0	37.0					6																	42672106		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42672106G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.825C>T	6.37:g.42672106G>A							p.F275F	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		2	1111	-	Colorectal(47;0.196)		275			Helical; (Potential).		Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.825C>T	CCDS4871.1																																																																																				0.627	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322	
KHDRBS2	202559	broad.mit.edu	37	6	62995779	62995779	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:62995779C>T	ENST00000281156.4	-	1	353	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567																																						uc003peg.2																			0				skin(7)|ovary(3)|liver(1)	11						c.(73-75)TCG>TCA		KH domain-containing, RNA-binding, signal							114.0	87.0	97.0					6																	62995779		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62995779C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.75G>A	6.37:g.62995779C>T							p.S25S	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	1	322	-			25					A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.75G>A	CCDS4963.1																																																																																				0.567	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
SASH1	23328	broad.mit.edu	37	6	148840740	148840740	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:148840740A>G	ENST00000367467.3	+	10	1395	c.920A>G	c.(919-921)tAc>tGc	p.Y307C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	307					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCGCCCTCTACTCTGGCGTG	0.552																																						uc003qme.1																			0				central_nervous_system(1)	1						c.(919-921)TAC>TGC		SAM and SH3 domain containing 1							80.0	82.0	81.0					6																	148840740		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148840740A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.920A>G	6.37:g.148840740A>G	ENSP00000356437:p.Tyr307Cys					SASH1_uc011eeb.1_Missense_Mutation_p.Y68C	p.Y307C	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	10	1395	+		Ovarian(120;0.0169)	307					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.920A>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521508	0.64747	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.55052	0.54	5.43	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	L	0.32530	0.975	0.49299	D	0.999774	P;P	0.38992	0.653;0.653	B;B	0.34652	0.187;0.187	T	0.12993	-1.0526	10	0.72032	D	0.01	-10.6381	11.336	0.49505	0.9284:0.0:0.0716:0.0	.	288;307	Q6P4R9;O94885	.;SASH1_HUMAN	C	307;68	ENSP00000356437:Y307C	ENSP00000356437:Y307C	Y	+	2	0	SASH1	148882433	1.000000	0.71417	0.643000	0.29450	0.954000	0.61252	8.904000	0.92590	0.890000	0.36211	0.533000	0.62120	TAC		0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
PKD1L1	168507	broad.mit.edu	37	7	47835588	47835588	+	Splice_Site	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:47835588T>C	ENST00000289672.2	-	55	8404	c.8354A>G	c.(8353-8355)cAc>cGc	p.H2785R	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2785					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCTTACGTGATTCTCAAC	0.413																																						uc003tny.1																			0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(8353-8355)CAC>CGC		polycystin-1L1							198.0	182.0	187.0					7																	47835588		2203	4300	6503	SO:0001630	splice_region_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47835588T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8355+1A>G	7.37:g.47835588T>C						C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	p.H2785R	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			55	8354	-			2785			Cytoplasmic (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8354A>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012391	0.35511	.	.	ENSG00000158683	ENST00000289672	T	0.18502	2.21	5.42	2.69	0.31865	.	0.139643	0.31685	N	0.007221	T	0.09862	0.0242	L	0.27053	0.805	0.09310	N	1	B	0.30281	0.275	B	0.28638	0.092	T	0.26467	-1.0102	10	0.24483	T	0.36	-9.1684	7.0397	0.25013	0.0:0.2103:0.0:0.7897	.	2785	Q8TDX9	PK1L1_HUMAN	R	2785	ENSP00000289672:H2785R	ENSP00000289672:H2785R	H	-	2	0	PKD1L1	47802113	0.003000	0.15002	0.121000	0.21740	0.104000	0.19210	0.281000	0.18810	0.893000	0.36288	0.529000	0.55759	CAC		0.413	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Missense_Mutation
KMT2C	58508	broad.mit.edu	37	7	151960173	151960173	+	Silent	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:151960173A>G	ENST00000262189.6	-	9	1445	c.1227T>C	c.(1225-1227)tgT>tgC	p.C409C	KMT2C_ENST00000355193.2_Silent_p.C409C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	409					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCCTTTGTCACACGTATCAC	0.308																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1225-1227)TGT>TGC		myeloid/lymphoid or mixed-lineage leukemia 3							107.0	95.0	99.0					7																	151960173		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151960173A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1227T>C	7.37:g.151960173A>G							p.C409C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	9	1446	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	409			PHD-type 2.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1227T>C	CCDS5931.1																																																																																				0.308	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
RIMS2	9699	broad.mit.edu	37	8	105026843	105026843	+	Splice_Site	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105026843A>G	ENST00000436393.2	+	17	2795	c.2554A>G	c.(2554-2556)Aac>Gac	p.N852D	RIMS2_ENST00000406091.3_Splice_Site_p.K1112E|RIMS2_ENST00000262231.10_Splice_Site_p.K951E|RIMS2_ENST00000507740.1_Splice_Site_p.K926E			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1174	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTTGGATAGAAGTAAGTTTTA	0.418										HNSCC(12;0.0054)																												uc003yls.2																			0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2554-2556)AAC>GAC		regulating synaptic membrane exocytosis 2							63.0	66.0	65.0					8																	105026843		1884	4104	5988	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026843A>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2554+1A>G	8.37:g.105026843A>G		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.K1112E|RIMS2_uc003ylw.2_Missense_Mutation_p.N926D|RIMS2_uc003ylq.2_Missense_Mutation_p.K926E|RIMS2_uc003ylr.2_Missense_Mutation_p.K951E	p.N852D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2795	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2554A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.553|5.553	0.286974|0.286974	0.10513|0.10513	.|.	.|.	ENSG00000176406|ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740|ENST00000408894;ENST00000436393	T;T;T|T;T	0.15017|0.15487	2.77;2.46;2.46|2.42;2.71	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|.	.|.	.|.	.|.	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.02011|0.02011	-0.69|-0.69	0.42849|0.42849	D|D	0.994079|0.994079	B;B;D|B	0.56035|0.16802	0.023;0.007;0.974|0.019	B;B;D|B	0.67725|0.15484	0.022;0.006;0.953|0.013	T|T	0.33317|0.33317	-0.9873|-0.9873	9|9	0.06236|0.12103	T|T	0.91|0.63	.|.	15.8417|15.8417	0.78852|0.78852	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	951;926;1112|852	Q9UQ26-1;Q9UQ26-3;F8WD47|D6RA03	.;.;.|.	E|D	1149;1112;1174;951;926|926;852	ENSP00000384892:K1112E;ENSP00000262231:K951E;ENSP00000423559:K926E|ENSP00000386228:N926D;ENSP00000390665:N852D	ENSP00000262231:K951E|ENSP00000386228:N926D	K|N	+|+	1|1	0|0	RIMS2|RIMS2	105096019|105096019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.415000|8.415000	0.90241|0.90241	2.142000|2.142000	0.66516|0.66516	0.482000|0.482000	0.46254|0.46254	AAA|AAC		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	Missense_Mutation
DPYS	1807	broad.mit.edu	37	8	105456494	105456494	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105456494C>A	ENST00000351513.2	-	4	907	c.775G>T	c.(775-777)Gcg>Tcg	p.A259S		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	259					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCATCCGCTATCACCTTA	0.493																																						uc003yly.3																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(775-777)GCG>TCG		dihydropyrimidinase							120.0	93.0	102.0					8																	105456494		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456494C>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.775G>T	8.37:g.105456494C>A	ENSP00000276651:p.Ala259Ser						p.A259S	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	904	-			259						Missense_Mutation	SNP	ENST00000351513.2	37	c.775G>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499761	0.26861	.	.	ENSG00000147647	ENST00000351513	D	0.90504	-2.68	5.74	5.74	0.90152	Amidohydrolase 1 (1);	0.117394	0.64402	D	0.000014	D	0.86502	0.5948	L	0.41961	1.31	0.47994	D	0.999569	B	0.06786	0.001	B	0.16289	0.015	T	0.80804	-0.1219	10	0.27785	T	0.31	-28.9661	13.5957	0.61988	0.0:0.9201:0.0:0.0799	.	259	Q14117	DPYS_HUMAN	S	259	ENSP00000276651:A259S	ENSP00000276651:A259S	A	-	1	0	DPYS	105525670	0.992000	0.36948	0.183000	0.23137	0.670000	0.39368	2.927000	0.48900	2.703000	0.92315	0.655000	0.94253	GCG		0.493	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
COL14A1	7373	broad.mit.edu	37	8	121259908	121259908	+	Missense_Mutation	SNP	C	C	T	rs560701039		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:121259908C>T	ENST00000297848.3	+	21	2806	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	COL14A1_ENST00000247781.3_Missense_Mutation_p.R751C|COL14A1_ENST00000309791.4_Missense_Mutation_p.R846C|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R846S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAACCGGTTGCGCATTACGTG	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15439	0.0		0.0	False		,,,				2504	0.0					uc003yox.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2536-2538)CGC>TGC		collagen, type XIV, alpha 1 precursor							105.0	92.0	97.0					8																	121259908		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121259908C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2536C>T	8.37:g.121259908C>T	ENSP00000297848:p.Arg846Cys					COL14A1_uc003yoy.2_Missense_Mutation_p.R524C	p.R846C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		21	2801	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		846			Fibronectin type-III 7.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2536C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543933	0.65198	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051779	0.64402	D	0.000001	T	0.73426	0.3585	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.75909	-0.3151	10	0.59425	D	0.04	.	13.2286	0.59929	0.2773:0.7227:0.0:0.0	.	846;846	Q05707-2;Q05707	.;COEA1_HUMAN	C	846;846;751;659	ENSP00000311809:R846C;ENSP00000297848:R846C;ENSP00000247781:R751C;ENSP00000409461:R659C	ENSP00000247781:R751C	R	+	1	0	COL14A1	121329089	1.000000	0.71417	0.989000	0.46669	0.839000	0.47603	2.053000	0.41326	2.745000	0.94114	0.462000	0.41574	CGC		0.458	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
TG	7038	broad.mit.edu	37	8	133879299	133879299	+	Silent	SNP	G	G	A	rs145163419	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:133879299G>A	ENST00000220616.4	+	1	94	c.54G>A	c.(52-54)tcG>tcA	p.S18S	TG_ENST00000377869.1_Silent_p.S18S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	18					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGGGTGTCGGCCAATATCT	0.617																																						uc003ytw.2																			0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(52-54)TCG>TCA		thyroglobulin precursor		G		1,4405		0,1,2202	36.0	26.0	30.0		54	-8.6	0.0	8	dbSNP_134	30	4,8596		0,4,4296	no	coding-synonymous	TG	NM_003235.4		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		18/2769	133879299	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133879299G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.54G>A	8.37:g.133879299G>A							p.S18S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	1	95	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	18					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.54G>A	CCDS34944.1																																																																																				0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
PRUNE2	158471	broad.mit.edu	37	9	79469120	79469120	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:79469120C>T	ENST00000376718.3	-	2	164	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	PRUNE2_ENST00000376713.3_Missense_Mutation_p.R14Q|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	14					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCGTTTGCTTCGATTCTGAAA	0.328																																						uc010mpk.2																			0					0						c.(40-42)CGA>CAA		prune homolog 2																																				SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79469120C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.41G>A	9.37:g.79469120C>T	ENSP00000365908:p.Arg14Gln					PRUNE2_uc004akn.2_Missense_Mutation_p.R14Q	p.R14Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			2	165	-			14					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.41G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034331	0.75617	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15952	2.38;2.38	5.57	5.57	0.84162	.	0.280714	0.24076	U	0.041777	T	0.36663	0.0975	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.02115	-1.1211	10	0.15952	T	0.53	.	19.5508	0.95319	0.0:1.0:0.0:0.0	.	14;14	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	Q	14;13;14	ENSP00000365908:R14Q;ENSP00000365903:R14Q	ENSP00000365903:R14Q	R	-	2	0	PRUNE2	78658940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.528000	0.53524	2.617000	0.88574	0.655000	0.94253	CGA		0.328	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
AKNA	80709	broad.mit.edu	37	9	117129898	117129898	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117129898C>T	ENST00000307564.4	-	6	1814	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	AKNA_ENST00000374075.5_Silent_p.R470R|AKNA_ENST00000374088.3_Silent_p.R551R|AKNA_ENST00000223791.3_Silent_p.R11R|AKNA_ENST00000312033.3_Silent_p.R551R	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	551					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGAGATGTCCCGGTTCTCCG	0.617																																						uc004biq.3																			0				ovary(4)|central_nervous_system(2)	6						c.(1651-1653)CGG>CGA		AT-hook transcription factor							50.0	50.0	50.0					9																	117129898		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117129898C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1653G>A	9.37:g.117129898C>T						AKNA_uc004bio.3_Silent_p.R11R|AKNA_uc004bip.3_Silent_p.R470R|AKNA_uc004bir.3_Silent_p.R551R|AKNA_uc004bis.3_Silent_p.R551R|AKNA_uc010mve.2_Silent_p.R432R|AKNA_uc004biu.1_Silent_p.R292R|AKNA_uc004biv.1_Silent_p.R551R	p.R551R	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			5	1788	-			551					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.1653G>A	CCDS6805.1																																																																																				0.617	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
TNC	3371	broad.mit.edu	37	9	117797581	117797581	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117797581C>T	ENST00000350763.4	-	22	6100	c.5689G>A	c.(5689-5691)Gag>Aag	p.E1897K	TNC_ENST00000542877.1_Missense_Mutation_p.E1534K|TNC_ENST00000346706.3_Missense_Mutation_p.E1351K|TNC_ENST00000537320.1_Missense_Mutation_p.E1260K|TNC_ENST00000345230.3_Missense_Mutation_p.E1260K|TNC_ENST00000423613.2_Missense_Mutation_p.E1624K|TNC_ENST00000341037.4_Missense_Mutation_p.E1715K|TNC_ENST00000340094.3_Missense_Mutation_p.E1533K|TNC_ENST00000535648.1_Missense_Mutation_p.E1442K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1897	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.E1897K(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGAACCTCAGTAGCAGTC	0.517																																						uc004bjj.3																			1	Substitution - Missense(1)	p.E1897K(1)	central_nervous_system(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5689-5691)GAG>AAG		tenascin C precursor							79.0	78.0	78.0					9																	117797581		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797581C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5689G>A	9.37:g.117797581C>T	ENSP00000265131:p.Glu1897Lys					TNC_uc010mvf.2_Missense_Mutation_p.E1624K	p.E1897K	NM_002160	NP_002151	P24821	TENA_HUMAN			22	6051	-			1897			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5689G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633434	0.67015	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.97	5.97	0.96955	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.191551	0.56097	D	0.000030	T	0.73133	0.3548	L	0.59436	1.845	0.36802	D	0.885399	D;D	0.60160	0.987;0.973	P;P	0.62885	0.9;0.908	T	0.75470	-0.3306	10	0.56958	D	0.05	.	20.4136	0.99023	0.0:1.0:0.0:0.0	.	1624;1897	E9PC84;P24821	.;TENA_HUMAN	K	1533;1442;1351;1260;1897;969;1715;1624;1260;1534	ENSP00000344400:E1533K;ENSP00000438152:E1442K;ENSP00000344555:E1351K;ENSP00000345861:E1260K;ENSP00000265131:E1897K;ENSP00000339553:E1715K;ENSP00000411406:E1624K;ENSP00000443478:E1260K;ENSP00000442242:E1534K	ENSP00000344400:E1533K	E	-	1	0	TNC	116837402	0.998000	0.40836	0.966000	0.40874	0.921000	0.55340	3.501000	0.53325	2.819000	0.97034	0.655000	0.94253	GAG		0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
OR5C1	392391	broad.mit.edu	37	9	125551260	125551260	+	Missense_Mutation	SNP	G	G	A	rs375037936		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:125551260G>A	ENST00000373680.2	+	1	111	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGCTGAATTCGTCCTCCTGGG	0.587																																						uc011lzd.1																			0				pancreas(1)	1						c.(49-51)GTC>ATC		olfactory receptor, family 5, subfamily C,		G	ILE/VAL	0,4406		0,0,2203	87.0	86.0	86.0		49	2.8	1.0	9		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5C1	NM_001001923.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	17/321	125551260	1,13005	2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551260G>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.49G>A	9.37:g.125551260G>A	ENSP00000362784:p.Val17Ile						p.V17I	NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN			1	49	+			17			Extracellular (Potential).		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.49G>A	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.818772	0.00595	0.0	1.16E-4	ENSG00000148215	ENST00000373680	T	0.00433	7.43	5.14	2.82	0.32997	.	0.209806	0.23481	N	0.047719	T	0.00144	0.0004	N	0.01761	-0.735	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	10	0.02654	T	1	.	8.9178	0.35592	0.8447:0.0:0.1553:0.0	.	17	Q8NGR4	OR5C1_HUMAN	I	17	ENSP00000362784:V17I	ENSP00000362784:V17I	V	+	1	0	OR5C1	124591081	0.000000	0.05858	0.997000	0.53966	0.051000	0.14879	-0.133000	0.10451	0.416000	0.25844	-1.058000	0.02302	GTC		0.587	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		
ZNF41	7592	broad.mit.edu	37	X	47308259	47308259	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:47308259T>C	ENST00000377065.4	-	5	1549	c.910A>G	c.(910-912)Agc>Ggc	p.S304G	ZNF41_ENST00000397050.2_Missense_Mutation_p.S314G|ZNF41_ENST00000313116.7_Missense_Mutation_p.S304G|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACTTTGTTGCTTTTGTCACAT	0.418																																						uc004dhs.3																			0				ovary(3)	3						c.(1036-1038)AGC>GGC		zinc finger protein 41							87.0	80.0	83.0					X																	47308259		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308259T>C	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.910A>G	X.37:g.47308259T>C	ENSP00000366265:p.Ser304Gly					ZNF41_uc004dhu.3_Missense_Mutation_p.S338G|ZNF41_uc004dht.3_Missense_Mutation_p.S218G|ZNF41_uc004dhv.3_Missense_Mutation_p.S314G|ZNF41_uc004dhw.3_Missense_Mutation_p.S306G|ZNF41_uc004dhy.3_Missense_Mutation_p.S304G|ZNF41_uc004dhx.3_Missense_Mutation_p.S304G|ZNF41_uc011mlm.1_Missense_Mutation_p.S218G	p.S346G	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1103	-		all_lung(315;0.000129)	346			C2H2-type 2; degenerate.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1036A>G	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.661889	0.29515	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.15017	2.46;2.46;2.46	3.32	-4.56	0.03431	Zinc finger, C2H2 (1);	1.026630	0.07797	N	0.955822	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29301	0.0;0.0;0.241;0.0;0.0	B;B;B;B;B	0.25140	0.001;0.001;0.058;0.002;0.001	T	0.30736	-0.9968	10	0.72032	D	0.01	.	0.3342	0.00323	0.2888:0.2053:0.291:0.2149	.	304;306;314;338;346	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	G	304;304;314	ENSP00000315173:S304G;ENSP00000366265:S304G;ENSP00000380243:S314G	ENSP00000315173:S304G	S	-	1	0	ZNF41	47193203	0.132000	0.22450	0.000000	0.03702	0.002000	0.02628	1.910000	0.39927	-1.116000	0.02969	0.481000	0.45027	AGC		0.418	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	
BCORL1	63035	broad.mit.edu	37	X	129190028	129190028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:129190028G>T	ENST00000218147.7	+	13	5250	c.5053G>T	c.(5053-5055)Gag>Tag	p.E1685*	BCORL1_ENST00000359304.2_Nonsense_Mutation_p.E1555*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.E1759*|BCORL1_ENST00000540052.1_Nonsense_Mutation_p.E1685*			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1685					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGCTCCTCTGAGACTGTGGA	0.627																																						uc004evb.1																			0				ovary(4)|breast(2)|lung(1)	7						c.(5053-5055)GAG>TAG		BCL6 co-repressor-like 1							41.0	41.0	41.0					X																	129190028		2203	4300	6503	SO:0001587	stop_gained	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190028G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5053G>T	X.37:g.129190028G>T	ENSP00000218147:p.Glu1685*					BCORL1_uc004evc.1_Nonsense_Mutation_p.E521*	p.E1685*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			13	5167	+			1685					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Nonsense_Mutation	SNP	ENST00000218147.7	37	c.5053G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	g	41	9.075675	0.99057	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.	.	.	4.85	4.85	0.62838	.	0.000000	0.34828	N	0.003657	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.6805	17.1749	0.86839	0.0:0.0:1.0:0.0	.	.	.	.	X	1685;1759;1555;1685;1359	.	ENSP00000218147:E1685X	E	+	1	0	BCORL1	129017709	1.000000	0.71417	0.991000	0.47740	0.801000	0.45260	4.832000	0.62759	2.235000	0.73313	0.509000	0.49947	GAG		0.627	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
PASD1	139135	broad.mit.edu	37	X	150770028	150770028	+	Start_Codon_SNP	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:150770028G>T	ENST00000370357.4	+	2	248	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	1						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAATGAAGATGAGAG	0.408																																						uc004fev.3																			0				ovary(3)	3						c.(1-3)ATG>ATT		PAS domain containing 1							139.0	113.0	122.0					X																	150770028		2203	4300	6503	SO:0001582	initiator_codon_variant	139135					nucleus	signal transducer activity	g.chrX:150770028G>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.3G>T	X.37:g.150770028G>T	ENSP00000359382:p.Met1Ile						p.M1I	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			2	335	+	Acute lymphoblastic leukemia(192;6.56e-05)		1					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.3G>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406685	0.25378	.	.	ENSG00000166049	ENST00000370357	T	0.75821	-0.97	4.96	-0.397	0.12423	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.09310	N	1	B	0.25312	0.123	B	0.19666	0.026	T	0.51926	-0.8643	8	0.87932	D	0	.	8.3287	0.32173	0.5094:0.0:0.4906:0.0	.	1	Q8IV76	PASD1_HUMAN	I	1	ENSP00000359382:M1I	ENSP00000359382:M1I	M	+	3	0	PASD1	150520684	0.175000	0.23083	0.000000	0.03702	0.000000	0.00434	0.342000	0.19926	-0.517000	0.06461	-0.269000	0.10298	ATG		0.408	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Missense_Mutation
