#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NDST3	9348	broad.mit.edu	37	4	118975673	118975673	+	Missense_Mutation	SNP	G	G	T	rs377531754		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr4:118975673G>T	ENST00000296499.5	+	2	1011	c.608G>T	c.(607-609)cGt>cTt	p.R203L	NDST3_ENST00000433996.2_Missense_Mutation_p.R203L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(607-609)cGt>cTt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							121.0	124.0	123.0					4																	118975673		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975673G>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.608G>T	4.37:g.118975673G>T	ENSP00000296499:p.Arg203Leu					NDST3_ENST00000433996.2_Missense_Mutation_p.R203L	p.R203L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	1011	+			203			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.608G>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516216	0.27123	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46819	1.21;0.86	5.07	-2.27	0.06846	.	0.268407	0.41712	D	0.000822	T	0.38878	0.1057	L	0.56199	1.76	0.33064	D	0.534513	B;B;P	0.40302	0.042;0.006;0.712	B;B;B	0.38378	0.046;0.038;0.272	T	0.52313	-0.8592	10	0.56958	D	0.05	.	12.0683	0.53601	0.6079:0.0:0.3921:0.0	.	203;203;203	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	203	ENSP00000296499:R203L;ENSP00000396625:R203L	ENSP00000296499:R203L	R	+	2	0	NDST3	119195121	0.000000	0.05858	0.900000	0.35374	0.916000	0.54674	-0.173000	0.09854	-0.434000	0.07275	-0.794000	0.03295	CGT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		3	40	1	0	0.004672	0.004672	0.00645181	3	40				
PRSS38	339501	broad.mit.edu	37	1	228033757	228033757	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:228033757G>A	ENST00000366757.3	+	5	853	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTACCCTGGAGTGTATGCCAG	0.547																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(829-831)Gtg>Atg		protease, serine, 38							75.0	75.0	75.0					1																	228033757		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228033757G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.829G>A	1.37:g.228033757G>A	ENSP00000355719:p.Val277Met						p.V277M	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			5	853	+			277			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.829G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385613	0.61956	.	.	ENSG00000185888	ENST00000366757	D	0.91631	-2.88	4.21	4.21	0.49690	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32328	N	0.006254	D	0.96728	0.8932	M	0.92459	3.31	0.32760	N	0.50529	D	0.89917	1.0	D	0.91635	0.999	D	0.98106	1.0417	10	0.87932	D	0	.	14.4345	0.67272	0.0:0.0:1.0:0.0	.	277	A1L453	PRS38_HUMAN	M	277	ENSP00000355719:V277M	ENSP00000355719:V277M	V	+	1	0	PRSS38	226100380	1.000000	0.71417	0.059000	0.19551	0.143000	0.21401	5.314000	0.65804	2.324000	0.78689	0.563000	0.77884	GTG		0.547	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		7	71	0	0	0	0.003080	0	7	71				
DENND5B	160518	broad.mit.edu	37	12	31605085	31605085	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr12:31605085A>C	ENST00000389082.5	-	5	1682	c.1418T>G	c.(1417-1419)cTc>cGc	p.L473R	DENND5B_ENST00000536562.1_Missense_Mutation_p.L508R|DENND5B_ENST00000306833.6_Missense_Mutation_p.L508R|DENND5B_ENST00000354285.4_Missense_Mutation_p.L495R|snoU13_ENST00000458765.1_RNA	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	473					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAAGCAGAGAGGTCCATTTT	0.468																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1417-1419)cTc>cGc		DENN/MADD domain containing 5B							162.0	164.0	163.0					12																	31605085		1948	4141	6089	SO:0001583	missense	160518					integral to membrane		g.chr12:31605085A>C	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1418T>G	12.37:g.31605085A>C	ENSP00000373734:p.Leu473Arg					DENND5B_ENST00000306833.6_Missense_Mutation_p.L508R|DENND5B_ENST00000354285.4_Missense_Mutation_p.L495R|DENND5B_ENST00000536562.1_Missense_Mutation_p.L508R	p.L473R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			5	1682	-			473					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1418T>G	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.709651	0.30322	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	4.53	4.53	0.55603	.	0.666536	0.14147	N	0.338284	T	0.48554	0.1506	L	0.44542	1.39	0.40243	D	0.977986	P;P;B;B	0.40638	0.725;0.725;0.158;0.451	P;B;B;B	0.45998	0.5;0.382;0.078;0.212	T	0.41342	-0.9514	10	0.32370	T	0.25	-17.9575	14.0426	0.64687	1.0:0.0:0.0:0.0	.	395;495;473;508	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	R	473;508;508;495;425	ENSP00000373734:L473R;ENSP00000306482:L508R;ENSP00000444889:L508R;ENSP00000346238:L495R;ENSP00000442938:L425R	ENSP00000306482:L508R	L	-	2	0	DENND5B	31496352	1.000000	0.71417	0.733000	0.30861	0.693000	0.40251	4.943000	0.63554	1.891000	0.54761	0.460000	0.39030	CTC		0.468	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		9	234	0	0	0	0.004482	0	9	234				
MT-CO2	4513	broad.mit.edu	37	M	8190	8190	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chrM:8190C>T	ENST00000361739.1	+	1	605	c.605C>T	c.(604-606)gCa>gTa	p.A202V	MT-TD_ENST00000387419.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	202					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AATCTGTGGAGCAAACCACAG	0.468																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(604-606)gCa>gTa		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:8190C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.605C>T	M.37:g.8190C>T	ENSP00000354876:p.Ala202Val						p.A202V							1	605	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.605C>T																																																																																					0.468	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		9	40	0	0	0	0.008291	0	9	40				
TTC7A	57217	broad.mit.edu	37	2	47222329	47222329	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:47222329C>A	ENST00000319190.5	+	8	1424	c.1056C>A	c.(1054-1056)agC>agA	p.S352R	TTC7A_ENST00000409245.1_Missense_Mutation_p.S318R|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.S352R|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	352					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCCTCATCAGCGAATCCATGG	0.607																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1054-1056)agC>agA		tetratricopeptide repeat domain 7A							167.0	125.0	139.0					2																	47222329		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47222329C>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1056C>A	2.37:g.47222329C>A	ENSP00000316699:p.Ser352Arg					TTC7A_ENST00000409245.1_Missense_Mutation_p.S318R|TTC7A_ENST00000394850.2_Missense_Mutation_p.S352R|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	p.S352R	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		8	1424	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	352					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1056C>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774120	0.69992	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.36699	1.68;1.68;1.24	4.67	-2.98	0.05513	.	0.052522	0.85682	D	0.000000	T	0.51363	0.1670	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.69078	0.992;0.995;0.989;0.99;0.997	P;D;P;P;D	0.72075	0.862;0.947;0.754;0.737;0.976	T	0.53774	-0.8391	10	0.62326	D	0.03	-7.7181	11.4861	0.50354	0.0:0.2545:0.0:0.7455	.	352;318;352;180;318	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	R	318;352;352;179	ENSP00000386307:S318R;ENSP00000316699:S352R;ENSP00000378320:S352R	ENSP00000316699:S352R	S	+	3	2	TTC7A	47075833	0.835000	0.29415	0.989000	0.46669	0.998000	0.95712	-0.461000	0.06712	-0.460000	0.07003	0.655000	0.94253	AGC		0.607	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		3	55	1	0	0.004672	0.004672	0.00645181	3	55				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	61	0	0	0	0.008291	0	6	61				
MFSD2B	388931	broad.mit.edu	37	2	24245335	24245335	+	Silent	SNP	A	A	G	rs377638611		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:24245335A>G	ENST00000406420.3	+	9	943	c.927A>G	c.(925-927)acA>acG	p.T309T	MFSD2B_ENST00000338315.4_Silent_p.T309T	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	309					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTTCTGTACACATGCCTCCC	0.607																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(925-927)acA>acG		major facilitator superfamily domain containing 2B							61.0	59.0	60.0					2																	24245335		2129	4247	6376	SO:0001819	synonymous_variant	388931				transport	integral to membrane		g.chr2:24245335A>G		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.927A>G	2.37:g.24245335A>G						MFSD2B_ENST00000406420.3_Silent_p.T309T	p.T309T			A6NFX1	MFS2B_HUMAN			9	927	+			309					B5MC32	Silent	SNP	ENST00000406420.3	37	c.927A>G	CCDS46228.1																																																																																				0.607	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		14	20	0	0	0	0.004007	0	14	20				
PLPPR4	9890	broad.mit.edu	37	1	99771893	99771893	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:99771893C>G	ENST00000370185.3	+	7	2116	c.1619C>G	c.(1618-1620)aCt>aGt	p.T540S	LPPR4_ENST00000370184.1_Missense_Mutation_p.T382S|LPPR4_ENST00000457765.1_Missense_Mutation_p.T482S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		540					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCTGAGGAGACTCAGGAAAAC	0.557																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1618-1620)aCt>aGt									103.0	108.0	106.0					1																	99771893		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771893C>G																												ENST00000370185.3:c.1619C>G	1.37:g.99771893C>G	ENSP00000359204:p.Thr540Ser					LPPR4_ENST00000457765.1_Missense_Mutation_p.T482S|LPPR4_ENST00000370184.1_Missense_Mutation_p.T382S	p.T540S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2116	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	540					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1619C>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770978	0.31320	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.21932	2.55;2.56;1.98	5.62	5.62	0.85841	.	0.102345	0.64402	D	0.000002	T	0.19327	0.0464	L	0.28274	0.84	0.52099	D	0.999949	D;B	0.59767	0.986;0.032	P;B	0.55391	0.775;0.017	T	0.01245	-1.1407	9	.	.	.	-31.271	19.6433	0.95764	0.0:1.0:0.0:0.0	.	482;540	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	S	540;482;540;382	ENSP00000359204:T540S;ENSP00000394913:T482S;ENSP00000359203:T382S	.	T	+	2	0	RP4-788L13.1	99544481	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	3.693000	0.54735	2.638000	0.89438	0.591000	0.81541	ACT		0.557	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			3	41	0	0	0	0.004672	0	3	41				
ANGPTL2	23452	broad.mit.edu	37	9	129870595	129870595	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr9:129870595A>T	ENST00000373425.3	-	2	1033	c.416T>A	c.(415-417)aTg>aAg	p.M139K	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	139					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CAGGAGCTGCATGTAGAGCTG	0.617																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(415-417)aTg>aAg		angiopoietin-like 2							56.0	49.0	52.0					9																	129870595		2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870595A>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.416T>A	9.37:g.129870595A>T	ENSP00000362524:p.Met139Lys					RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron	p.M139K	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	1033	-			139					Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.416T>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645315	0.87859	.	.	ENSG00000136859	ENST00000373425	T	0.35973	1.28	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	M	0.73962	2.25	0.80722	D	1	D	0.56521	0.976	P	0.60173	0.87	T	0.57306	-0.7834	10	0.39692	T	0.17	.	15.1095	0.72343	1.0:0.0:0.0:0.0	.	139	Q9UKU9	ANGL2_HUMAN	K	139	ENSP00000362524:M139K	ENSP00000362524:M139K	M	-	2	0	ANGPTL2	128910416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	1.981000	0.57761	0.533000	0.62120	ATG		0.617	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		4	56	0	0	0	0.001168	0	4	56				
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		63	Substitution - Missense(63)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	368	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		49	116	1	0	5.57489e-27	0.003610	9.51011e-27	49	116				
TG	7038	broad.mit.edu	37	8	133899654	133899654	+	Silent	SNP	C	C	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr8:133899654C>T	ENST00000220616.4	+	9	2077	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	TG_ENST00000377869.1_Silent_p.G679G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	679	Thyroglobulin type-1 6. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)		AGCCTGCTGGCTCCACCTTGT	0.557																																						ENST00000220616.4																			0				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						c.(2035-2037)ggC>ggT		thyroglobulin							65.0	61.0	62.0					8																	133899654		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899654C>T	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.2037C>T	8.37:g.133899654C>T						TG_ENST00000377869.1_Silent_p.G679G	p.G679G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	2077	+	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)	679			Thyroglobulin type-1 6.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2037C>T	CCDS34944.1																																																																																				0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	52	0	0	0	0.006214	0	10	52				
LRP1B	53353	broad.mit.edu	37	2	141259265	141259265	+	Silent	SNP	G	G	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:141259265G>T	ENST00000389484.3	-	55	9812	c.8841C>A	c.(8839-8841)gtC>gtA	p.V2947V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2947	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTATAACTGACCGGAAGGT	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8839-8841)gtC>gtA		low density lipoprotein receptor-related protein 1B							107.0	110.0	109.0					2																	141259265		2203	4299	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259265G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8841C>A	2.37:g.141259265G>T		TSP Lung(27;0.18)					p.V2947V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9812	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2947			EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8841C>A	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	22	1	0	6.4e-05	0.004672	0.000103111	3	22				
SLC22A6	9356	broad.mit.edu	37	11	62747391	62747391	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr11:62747391A>C	ENST00000377871.3	-	7	1333	c.1067T>G	c.(1066-1068)cTg>cGg	p.L356R	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L356R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	356					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTCCATGACCAGCCCATAGTA	0.502																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1066-1068)cTg>cGg		solute carrier family 22 (organic anion transporter), member 6							58.0	55.0	56.0					11																	62747391		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62747391A>C	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1067T>G	11.37:g.62747391A>C	ENSP00000367102:p.Leu356Arg					SLC22A6_ENST00000458333.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L356R	p.L356R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			7	1333	-			356					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1067T>G	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055786	0.76074	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	D	0.85102	0.5620	H	0.97265	3.97	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.993;0.997;0.995	D	0.89240	0.3583	10	0.87932	D	0	.	11.6251	0.51139	1.0:0.0:0.0:0.0	.	356;356;356;356	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	R	356;335;356;356;356	ENSP00000353597:L356R;ENSP00000367102:L356R;ENSP00000396401:L356R;ENSP00000404441:L356R	ENSP00000353597:L356R	L	-	2	0	SLC22A6	62503967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.540000	0.90641	1.829000	0.53265	0.459000	0.35465	CTG		0.502	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		5	117	0	0	0	0.001168	0	5	117				
CYB5R4	51167	broad.mit.edu	37	6	84618797	84618797	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr6:84618797G>A	ENST00000369681.5	+	4	540	c.400G>A	c.(400-402)Gct>Act	p.A134T	CYB5R4_ENST00000369679.4_Missense_Mutation_p.A100T	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	134					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CATTAAACCTGCTGTTCTGAA	0.393																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(400-402)Gct>Act		cytochrome b5 reductase 4							130.0	116.0	121.0					6																	84618797		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84618797G>A	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.400G>A	6.37:g.84618797G>A	ENSP00000358695:p.Ala134Thr					CYB5R4_ENST00000369679.4_Missense_Mutation_p.A100T	p.A134T	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	4	540	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	134					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.400G>A	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873357	0.17322	.	.	ENSG00000065615	ENST00000369681;ENST00000369679	D;D	0.84370	-1.84;-1.7	5.83	-6.32	0.01995	.	1.213010	0.05427	N	0.545185	T	0.41604	0.1166	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41197	-0.9522	10	0.22706	T	0.39	.	10.374	0.44071	0.6443:0.1051:0.2505:0.0	.	134	Q7L1T6	NB5R4_HUMAN	T	134;100	ENSP00000358695:A134T;ENSP00000358693:A100T	ENSP00000358693:A100T	A	+	1	0	CYB5R4	84675516	0.028000	0.19301	0.000000	0.03702	0.000000	0.00434	0.085000	0.14912	-2.064000	0.00888	-0.751000	0.03497	GCT		0.393	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		11	26	0	0	0	0.002450	0	11	26				
RRP9	9136	broad.mit.edu	37	3	51969488	51969488	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr3:51969488C>T	ENST00000232888.6	-	10	914	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	281					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TCCTGGTGTCCGAAGCTAGAG	0.627																																						ENST00000232888.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21						c.(841-843)Gga>Aga		ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)							81.0	65.0	71.0					3																	51969488		2203	4300	6503	SO:0001583	missense	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51969488C>T	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.841G>A	3.37:g.51969488C>T	ENSP00000232888:p.Gly281Arg						p.G281R	NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	10	914	-			281					B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	c.841G>A	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287645	0.59976	.	.	ENSG00000114767	ENST00000232888	T	0.70749	-0.51	4.36	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92434	0.5956	10	0.87932	D	0	-40.9732	16.7078	0.85377	0.0:1.0:0.0:0.0	.	281	O43818	U3IP2_HUMAN	R	281	ENSP00000232888:G281R	ENSP00000232888:G281R	G	-	1	0	RRP9	51944528	1.000000	0.71417	0.975000	0.42487	0.009000	0.06853	7.083000	0.76859	2.278000	0.76064	0.561000	0.74099	GGA		0.627	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704		11	33	0	0	0	0.006122	0	11	33				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	84	0	0	0	0.000248	0	4	84				
ASB5	140458	broad.mit.edu	37	4	177142728	177142728	+	Silent	SNP	G	G	A	rs61748176	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr4:177142728G>A	ENST00000296525.3	-	4	521	c.408C>T	c.(406-408)ggC>ggT	p.G136G	ASB5_ENST00000512254.1_Silent_p.G83G|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	136					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACGGAGTCACGCCATCTATCG	0.448													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20816	0.0		0.0	False		,,,				2504	0.001					ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(406-408)ggC>ggT		ankyrin repeat and SOCS box containing 5		G		3,4403	6.2+/-15.9	0,3,2200	114.0	103.0	107.0		408	-7.0	0.8	4	dbSNP_129	107	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	ASB5	NM_080874.3		0,22,6481	AA,AG,GG		0.2209,0.0681,0.1692		136/330	177142728	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177142728G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.408C>T	4.37:g.177142728G>A						ASB5_ENST00000512254.1_Silent_p.G83G|ASB5_ENST00000511879.1_5'UTR	p.G136G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	521	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	136					Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.408C>T	CCDS3827.1																																																																																				0.448	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			4	51	0	0	0	0.000248	0	4	51				
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs|CCDC28B_ENST00000483009.1_Intron|IQCC_ENST00000537469.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000291358.6_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		10	589						10	589	---	---	---	---
DUSP2	1844	broad.mit.edu	37	2	96809973	96809973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr2:96809973delA	ENST00000288943.4	-	3	735	c.650delT	c.(649-651)ttcfs	p.F217fs	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	217					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CTTGTAGCGGAAAAGGCCCTC	0.602																																						ENST00000288943.4																			0				NS(1)|breast(1)|lung(2)|skin(1)	5						c.(649-651)tcfs		dual specificity phosphatase 2							87.0	80.0	83.0					2																	96809973		2203	4300	6503	SO:0001589	frameshift_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809973delA	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.650delT	2.37:g.96809973delA	ENSP00000288943:p.Phe217fs						p.F217fs	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN			3	735	-		Ovarian(717;0.0228)	217					Q53T45	Frame_Shift_Del	DEL	ENST00000288943.4	37	c.650delT	CCDS2016.1																																																																																				0.602	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		7	222						7	222	---	---	---	---
C9orf114	51490	broad.mit.edu	37	9	131591119	131591120	+	Frame_Shift_Ins	INS	-	-	T	rs370087122		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr9:131591119_131591120insT	ENST00000361256.5	-	3	142_143	c.102_103insA	c.(100-105)aaatggfs	p.W35fs		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	35							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						AGATCCTTCCATTTTTTTTTCT	0.525																																						ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.(100-105)aaggaafs		chromosome 9 open reading frame 114																																				SO:0001589	frameshift_variant	51490							g.chr9:131591119_131591120insT		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.103dupA	9.37:g.131591128_131591128dupT	ENSP00000354812:p.Trp35fs						p.E35fs	NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			3	142_143	-			35					Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Frame_Shift_Ins	INS	ENST00000361256.5	37	c.102_103insA	CCDS6913.1																																																																																				0.525	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390		8	352						8	352	---	---	---	---
RP11-897M7.1	0	broad.mit.edu	37	12	131962149	131962150	+	lincRNA	INS	-	-	ATA	rs76730224		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr12:131962149_131962150insATA	ENST00000535133.1	-	0	195																											tggtaatggtggtgatgatggt	0.441																																						ENST00000535133.1																			0																																																			0							g.chr12:131962149_131962150insATA																													12.37:g.131962149_131962150insATA														0	195	-									RNA	INS	ENST00000535133.1	37																																																																																						0.441	RP11-897M7.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399228.1			3	5						3	5	---	---	---	---
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	lincRNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs141805851|rs370630614|rs373606592		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448																																						ENST00000554033.1																			0																																																			0							g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA																													14.37:g.95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA														0	41	+									RNA	DEL	ENST00000554033.1	37																																																																																						0.448	RP11-991C1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414512.1			7	40						7	40	---	---	---	---
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707|rs111725167|rs68056278	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)agctccaac>aac	p.SS69del	FAM174B_ENST00000555748.1_5'Flank|FAM174B_ENST00000555696.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714														4884	0.97524	0.9092	0.9942	5008	,	,		6551	1.0		1.0	False		,,,				2504	1.0					ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(205-213)aac>a		family with sequence similarity 174, member B				1931,417		927,77,170						2.2	1.0		dbSNP_130	8	5234,70		2614,6,32	no	coding	FAM174B	NM_207446.2		3541,83,202	A1A1,A1R,RR		1.3198,17.7598,6.3643				7165,487				SO:0001651	inframe_deletion	400451					integral to membrane		g.chr15:93198679_93198684delTGGAGC		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.206_211delGCTCCA	15.37:g.93198685_93198690delTGGAGC	ENSP00000329040:p.Ser69_Ser70del						p.SSN69del	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			1	504_509	-			69					Q3ZCR9|Q8NBH7	In_Frame_Del	DEL	ENST00000327355.5	37	c.206_211delGCTCCA	CCDS45355.1																																																																																				0.714	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		2	4						2	4	---	---	---	---
PLPPR3	79948	broad.mit.edu	37	19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-	rs189344455		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:813360_813362delTCC	ENST00000520876.3	-	8	1443_1445	c.1365_1367delGGA	c.(1363-1368)gaggaa>gaa	p.455_456EE>E	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_In_Frame_Del_p.483_484EE>E	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		455	Glu-rich.					integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										ctcctcctcttcctcctcctcct	0.759																																						ENST00000359894.2																			0											c.(1447-1452)gaa>ga						10,2858		2,6,1426						-3.4	0.3			2	12,5844		3,6,2919	no	coding	LPPR3	NM_024888.1		5,12,4345	A1A1,A1R,RR		0.2049,0.3487,0.2522				22,8702				SO:0001651	inframe_deletion	0					integral to membrane	phosphatidate phosphatase activity	g.chr19:813360_813362delTCC																												ENST00000520876.3:c.1365_1367delGGA	19.37:g.813369_813371delTCC	ENSP00000430297:p.Glu459del					LPPR3_ENST00000520876.3_In_Frame_Del_p.EE457del	p.EE485del	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			7	1512_1514	-			457					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	In_Frame_Del	DEL	ENST00000520876.3	37	c.1449_1451delGGA	CCDS58636.1																																																																																				0.759	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			2	4						2	4	---	---	---	---
MIA	8190	broad.mit.edu	37	19	41281673	41281674	+	Frame_Shift_Ins	INS	-	-	G	rs139650429		TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:41281673_41281674insG	ENST00000263369.3	+	2	310_311	c.144_145insG	c.(145-147)gtgfs	p.V49fs	RAB4B_ENST00000594800.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|MIA-RAB4B_ENST00000600729.1_Frame_Shift_Ins_p.V49fs|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000594436.1_Frame_Shift_Ins_p.V49fs|MIA_ENST00000597784.1_Frame_Shift_Ins_p.V49fs	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	49	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TCTCCATGGCTGTGGCCCTTCA	0.594																																						ENST00000600729.1																			0											c.(142-147)gctggcfs																																						SO:0001589	frameshift_variant	0							g.chr19:41281673_41281674insG	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.145dupG	19.37:g.41281674_41281674dupG	ENSP00000263369:p.Val49fs					MIA_ENST00000594436.1_Frame_Shift_Ins_p.G49fs|MIA_ENST00000263369.3_Frame_Shift_Ins_p.G49fs|MIA_ENST00000597784.1_Frame_Shift_Ins_p.G49fs	p.G49fs							3	566_567	+								Q6FHV3	Frame_Shift_Ins	INS	ENST00000263369.3	37	c.144_145insG	CCDS12566.1																																																																																				0.594	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			9	169						9	169	---	---	---	---
TPRX1	284355	broad.mit.edu	37	19	48306192	48306193	+	Frame_Shift_Ins	INS	-	-	C	rs369852848	byFrequency	TCGA-BJ-A18Y-01A-11D-A13W-08	TCGA-BJ-A18Y-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf73c27d-9f97-4b97-9b19-b602466e0c09	b7e081bc-12ae-40e0-b0da-f9a5c4efea75	g.chr19:48306192_48306193insC	ENST00000322175.3	-	2	230_231	c.75_76insG	c.(73-78)cggctcfs	p.L26fs	TPRX1_ENST00000535759.1_Frame_Shift_Ins_p.L123fs|TPRX1_ENST00000543508.1_Frame_Shift_Ins_p.L26fs	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	26						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TGCTGCTGGAGCCGCCGCTCCC	0.723																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(364-369)cgtccafs		tetra-peptide repeat homeobox 1																																				SO:0001589	frameshift_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48306192_48306193insC		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.76dupG	19.37:g.48306194_48306194dupC	ENSP00000323455:p.Leu26fs					TPRX1_ENST00000322175.3_Frame_Shift_Ins_p.P26fs|TPRX1_ENST00000543508.1_Frame_Shift_Ins_p.P26fs	p.P123fs			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	365_366	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	26			Gly-rich.		A5D8Y3|B2RPL5	Frame_Shift_Ins	INS	ENST00000322175.3	37	c.366_367insG	CCDS33066.1																																																																																				0.723	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		2	4						2	4	---	---	---	---
