#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
C3orf62	375341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49314185	49314185	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr3:49314185A>G	ENST00000343010.3	-	1	1157	c.121T>C	c.(121-123)Tgc>Cgc	p.C41R	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	41								p.C41R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGCCTGTGCACTCCTGGGAA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											37.0	41.0	40.0					3																	49314185		2203	4300	6503	SO:0001583	missense	375341			AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.121T>C	3.37:g.49314185A>G	ENSP00000341139:p.Cys41Arg		Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917853	0.73098	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.51071	0.72;0.72	4.56	4.56	0.56223	.	0.000000	0.56097	D	0.000029	T	0.55242	0.1908	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.58555	-0.7616	10	0.87932	D	0	-11.6571	10.2425	0.43321	1.0:0.0:0.0:0.0	.	41	Q6ZUJ4	CC062_HUMAN	R	41;39	ENSP00000341139:C41R;ENSP00000413663:C39R	ENSP00000341139:C41R	C	-	1	0	C3orf62	49289189	0.702000	0.27816	0.999000	0.59377	0.839000	0.47603	0.366000	0.20365	1.911000	0.55334	0.528000	0.53228	TGC		0.557	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1		NM_198562	
C9orf117	286207	broad.mit.edu	37	9	130475074	130475074	+	Silent	SNP	C	C	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr9:130475074C>A	ENST00000373295.2	+	7	1264	c.1224C>A	c.(1222-1224)ctC>ctA	p.L408L	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Silent_p.L57L	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	408								p.L408L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGTCATGCTCAGCTCCACTG	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	87.0	84.0					9																	130475074		2190	4288	6478	SO:0001819	synonymous_variant	286207			AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.1224C>A	9.37:g.130475074C>A			A5D8T9	Silent	SNP	ENST00000373295.2	37	CCDS43878.1																																																																																				0.592	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2		NM_001012502	
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19483487	19483487	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:19483487G>C	ENST00000507958.1	-	14	2795	c.1805C>G	c.(1804-1806)gCa>gGa	p.A602G	CDH18_ENST00000502796.1_Missense_Mutation_p.Q566E|CDH18_ENST00000382275.1_Missense_Mutation_p.A602G|CDH18_ENST00000506372.1_Missense_Mutation_p.Q567E|CDH18_ENST00000274170.4_Missense_Mutation_p.A602G			Q13634	CAD18_HUMAN	cadherin 18, type 2	602	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A602G(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAAGGCTTCTGCATGGCAGGT	0.522																																																	2	Substitution - Missense(2)	kidney(2)											76.0	69.0	71.0					5																	19483487		2203	4300	6503	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1805C>G	5.37:g.19483487G>C	ENSP00000425093:p.Ala602Gly		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.801192|2.801192	0.50315|0.50315	.|.	.|.	ENSG00000145526|ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170|ENST00000506372;ENST00000502796;ENST00000515257	T;T;T|T;T;T	0.58940|0.57752	0.3;0.3;0.3|0.38;0.38;0.53	5.54|5.54	5.54|5.54	0.83059|0.83059	Cadherin (1);|.	0.118551|.	0.56097|.	D|.	0.000023|.	T|T	0.57533|0.57533	0.2060|0.2060	M|M	0.80183|0.80183	2.485|2.485	0.43868|0.43868	D|D	0.996479|0.996479	B|B	0.17268|0.06786	0.021|0.001	B|B	0.20384|0.06405	0.029|0.002	T|T	0.54814|0.54814	-0.8237|-0.8237	9|8	.|.	.|.	.|.	.|.	18.0513|18.0513	0.89349|0.89349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	602|566	Q13634|B4DHG6	CAD18_HUMAN|.	G|E	602|567;566;433	ENSP00000371710:A602G;ENSP00000425093:A602G;ENSP00000274170:A602G|ENSP00000424931:Q567E;ENSP00000422138:Q566E;ENSP00000427383:Q433E	.|.	A|Q	-|-	2|1	0|0	CDH18|CDH18	19519244|19519244	0.995000|0.995000	0.38212|0.38212	0.897000|0.897000	0.35233|0.35233	0.911000|0.911000	0.54048|0.54048	3.378000|3.378000	0.52432|0.52432	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.522	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934	
DUSP14	11072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35872566	35872566	+	Silent	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr17:35872566T>C	ENST00000487847.1	+	2	1170	c.192T>C	c.(190-192)ccT>ccC	p.P64P	DUSP14_ENST00000394389.4_Silent_p.P64P|DUSP14_ENST00000394386.1_Silent_p.P64P			O95147	DUS14_HUMAN	dual specificity phosphatase 14	64					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P64P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTGAGATCCCTAATTTCAACT	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											126.0	107.0	114.0					17																	35872566		2203	4300	6503	SO:0001819	synonymous_variant	11072			AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.192T>C	17.37:g.35872566T>C				Silent	SNP	ENST00000487847.1	37	CCDS11320.1																																																																																				0.532	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3		NM_007026	
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56495609	56495609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr12:56495609C>T	ENST00000267101.3	+	28	4239	c.3799C>T	c.(3799-3801)Cga>Tga	p.R1267*	PA2G4_ENST00000303305.6_5'Flank|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000450146.2_Nonsense_Mutation_p.R624*|RP11-603J24.9_ENST00000548861.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000549832.1_Nonsense_Mutation_p.R387*|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R1208*|ERBB3_ENST00000553131.1_Nonsense_Mutation_p.R508*	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1267					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.R1267*(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAATCGGCAACGAGATGGAGG	0.552																																																	1	Substitution - Nonsense(1)	kidney(1)											76.0	71.0	73.0					12																	56495609		2203	4300	6503	SO:0001587	stop_gained	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3799C>T	12.37:g.56495609C>T	ENSP00000267101:p.Arg1267*		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Nonsense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	39	7.634453	0.98403	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	.	.	.	5.82	4.88	0.63580	.	0.269330	0.31554	N	0.007444	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3328	0.74226	0.0:0.8597:0.1403:0.0	.	.	.	.	X	1267;624;1208;390;508;387	.	ENSP00000267101:R1267X	R	+	1	2	ERBB3	54781876	0.993000	0.37304	0.919000	0.36401	0.298000	0.27526	3.173000	0.50839	2.752000	0.94435	0.655000	0.94253	CGA		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			
FOXD4L2	100036519	hgsc.bcm.edu	37	9	42719280	42719280	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr9:42719280delC	ENST00000377590.1	+	1	2047	c.1215delC	c.(1213-1215)tgcfs	p.C405fs		NM_001099279.1	NP_001092749.1	Q6VB85	FX4L2_HUMAN	forkhead box D4-like 2	405					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W406fs*>11(1)		haematopoietic_and_lymphoid_tissue(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GGGCGCGGTGCTGGGCGGGCA	0.677																																																	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001589	frameshift_variant	349334					9p12	2008-07-21			ENSG00000204828				24813	protein-coding gene	gene with protein product						12421752	Standard			Approved	OTTHUMG00000066752	uc004acn.3	Q6VB85	OTTHUMG00000066752	ENST00000377590.1:c.1215delC	9.37:g.42719280delC	ENSP00000366814:p.Cys405fs			Frame_Shift_Del	DEL	ENST00000377590.1	37	CCDS43817.1																																																																																				0.677	FOXD4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143077.1		NM_001099279	
GSTO1	9446	hgsc.bcm.edu	37	10	106022830	106022832	+	In_Frame_Del	DEL	GAG	GAG	-	rs113200905|rs72323784	byFrequency	TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr10:106022830_106022832delGAG	ENST00000369713.5	+	4	654_656	c.460_462delGAG	c.(460-462)gagdel	p.E155del	GSTO1_ENST00000539281.1_In_Frame_Del_p.E127del|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Intron	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	155	GST C-terminal.		Missing (in allele GSTO1*B; decreased protein stability). {ECO:0000269|PubMed:12618591, ECO:0000269|PubMed:12928150}.		cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	TACCAAGCTAGAGGAGGTAATTA	0.365														207	0.0413339	0.0219	0.0173	5008	,	,		19449	0.0119		0.0348	False		,,,				2504	0.1217																0									,,	125,4139		5,115,2012					,,	-1.8	1.0		dbSNP_130	72	247,8007		3,241,3883	no	coding,coding,intron	GSTO1	NM_004832.2,NM_001191003.1,NM_001191002.1	,,	8,356,5895	A1A1,A1R,RR		2.9925,2.9315,2.9717	,,	,,		372,12146				SO:0001651	inframe_deletion	9446			AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.460_462delGAG	10.37:g.106022833_106022835delGAG	ENSP00000358727:p.Glu155del		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	In_Frame_Del	DEL	ENST00000369713.5	37	CCDS7555.1																																																																																				0.365	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1		NM_004832	
KRT84	3890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52774232	52774232	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr12:52774232C>G	ENST00000257951.3	-	7	1405	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	447	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.E447Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGTACTCGCACAGCTGC	0.632											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											58.0	53.0	55.0					12																	52774232		2203	4300	6503	SO:0001583	missense	3890			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1339G>C	12.37:g.52774232C>G	ENSP00000257951:p.Glu447Gln	987	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830510	0.91036	.	.	ENSG00000161849	ENST00000257951	D	0.93763	-3.28	4.94	4.94	0.65067	Filament (1);	0.000000	0.46442	D	0.000288	D	0.96380	0.8819	M	0.85542	2.76	0.50632	D	0.999885	D	0.59767	0.986	P	0.58210	0.835	D	0.96907	0.9664	10	0.72032	D	0.01	.	18.365	0.90388	0.0:1.0:0.0:0.0	.	447	Q9NSB2	KRT84_HUMAN	Q	447	ENSP00000257951:E447Q	ENSP00000257951:E447Q	E	-	1	0	KRT84	51060499	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	5.930000	0.70104	2.572000	0.86782	0.591000	0.81541	GAG		0.632	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1		NM_033045	
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																																	11	Substitution - Missense(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)											26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895			AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			
LGR6	59352	broad.mit.edu;hgsc.bcm.edu	37	1	202287589	202287589	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr1:202287589T>G	ENST00000367278.3	+	18	2247	c.2158T>G	c.(2158-2160)Tac>Gac	p.Y720D	LGR6_ENST00000255432.7_Missense_Mutation_p.Y668D|LGR6_ENST00000439764.2_Missense_Mutation_p.Y581D	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	720					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.Y720D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGCCTGCCCTACGCGCCACC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											41.0	38.0	39.0					1																	202287589		2203	4299	6502	SO:0001583	missense	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2158T>G	1.37:g.202287589T>G	ENSP00000356247:p.Tyr720Asp		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800663	0.50315	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	D;D;D	0.86030	-2.06;-2.06;-2.06	4.36	3.22	0.36961	.	0.142736	0.49305	D	0.000158	D	0.82527	0.5056	L	0.36672	1.1	0.43421	D	0.995574	D;P;P	0.53462	0.96;0.696;0.605	P;B;P	0.51742	0.678;0.397;0.648	T	0.81883	-0.0728	10	0.72032	D	0.01	.	8.7544	0.34637	0.0:0.0879:0.0:0.9121	.	581;668;720	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	D	720;668;581	ENSP00000356247:Y720D;ENSP00000255432:Y668D;ENSP00000387869:Y581D	ENSP00000255432:Y668D	Y	+	1	0	LGR6	200554212	0.992000	0.36948	0.983000	0.44433	0.783000	0.44284	5.430000	0.66501	0.829000	0.34733	0.397000	0.26171	TAC		0.672	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1		NM_021636	
LRRC37B	114659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30348328	30348328	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr17:30348328C>T	ENST00000341671.7	+	1	168	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	LRRC37B_ENST00000584368.1_Missense_Mutation_p.L67F|LRRC37B_ENST00000394713.3_Missense_Mutation_p.L55F|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000327564.7_Missense_Mutation_p.L82F	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	55						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L55F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTCCTCCCATCTCCCATGGGA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											59.0	68.0	65.0					17																	30348328		2203	4300	6503	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.163C>T	17.37:g.30348328C>T	ENSP00000340519:p.Leu55Phe		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.438150	0.25900	.	.	ENSG00000185158	ENST00000327564;ENST00000394713;ENST00000341671	T;T;T	0.61859	0.07;1.17;0.07	1.93	0.877	0.19145	.	.	.	.	.	T	0.33847	0.0877	N	0.25647	0.755	0.09310	N	1	P;B	0.48407	0.91;0.064	B;B	0.32022	0.139;0.028	T	0.17107	-1.0380	9	0.52906	T	0.07	.	6.1948	0.20544	0.0:0.6799:0.3201:0.0	.	55;55	Q17RC9;Q96QE4	.;LR37B_HUMAN	F	82;55;55	ENSP00000332536:L82F;ENSP00000378202:L55F;ENSP00000340519:L55F	ENSP00000332536:L82F	L	+	1	0	LRRC37B	27372441	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-0.055000	0.11807	0.343000	0.23821	0.299000	0.19835	CTC		0.642	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1		NM_052888	
NPAT	4863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108040715	108040715	+	Silent	SNP	C	C	G			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr11:108040715C>G	ENST00000278612.8	-	14	2946	c.2841G>C	c.(2839-2841)ggG>ggC	p.G947G	NPAT_ENST00000610253.1_5'Flank	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	947					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G947G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CTGGGATCATCCCTACCATTC	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											122.0	115.0	117.0					11																	108040715		1888	4104	5992	SO:0001819	synonymous_variant	4863			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2841G>C	11.37:g.108040715C>G			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	CCDS41710.1																																																																																				0.388	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2		NM_002519	
PCDHGB3	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140751808	140751808	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:140751808T>A	ENST00000576222.1	+	1	1978	c.1847T>A	c.(1846-1848)cTg>cAg	p.L616Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCCGGGCTGTTCAGCCTG	0.687																																																	0													45.0	53.0	51.0					5																	140751808		2198	4290	6488	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1847T>A	5.37:g.140751808T>A	ENSP00000461862:p.Leu616Gln		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924	
RING1	6015	broad.mit.edu	37	6	33180123	33180123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr6:33180123delA	ENST00000374656.4	+	7	1376	c.1168delA	c.(1168-1170)aagfs	p.K390fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	390	Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAAATTCTGGAAGGTGTCCCG	0.567																																																	0													29.0	25.0	26.0					6																	33180123		1507	2707	4214	SO:0001589	frameshift_variant	6015				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1168delA	6.37:g.33180123delA	ENSP00000363787:p.Lys390fs		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Del	DEL	ENST00000374656.4	37	CCDS34424.1																																																																																				0.567	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			
RIPK1	8737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	3113551	3113551	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr6:3113551T>A	ENST00000259808.4	+	11	2292	c.1994T>A	c.(1993-1995)tTg>tAg	p.L665*	RIPK1_ENST00000541791.1_Nonsense_Mutation_p.L619*|RIPK1_ENST00000380409.2_Nonsense_Mutation_p.L665*			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	665	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.L665*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTGAGCAGCTTGATTTACGTC	0.562																																																	1	Substitution - Nonsense(1)	kidney(1)											49.0	46.0	47.0					6																	3113551		2203	4300	6503	SO:0001587	stop_gained	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1994T>A	6.37:g.3113551T>A	ENSP00000259808:p.Leu665*		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Nonsense_Mutation	SNP	ENST00000259808.4	37	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	T	39	7.561636	0.98358	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409;ENST00000453483	.	.	.	6.04	6.04	0.98038	.	0.253347	0.39210	N	0.001421	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4872	15.1596	0.72771	0.0:0.0:0.0:1.0	.	.	.	.	X	665;619;665;267	.	ENSP00000259808:L665X	L	+	2	0	RIPK1	3058550	0.977000	0.34250	0.014000	0.15608	0.008000	0.06430	5.804000	0.69135	2.317000	0.78254	0.460000	0.39030	TTG		0.562	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2		NM_003804	
SAR1B	51128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	133948437	133948437	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:133948437T>A	ENST00000402673.2	-	4	466	c.188A>T	c.(187-189)gAa>gTa	p.E63V	SAR1B_ENST00000502539.1_5'UTR|SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000509937.1_5'UTR|SAR1B_ENST00000439578.1_Missense_Mutation_p.E63V	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	63					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|GTP catabolic process (GO:0006184)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.E63V(1)		kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATGGTCAGTTCTTCGGAAGC	0.274																																																	1	Substitution - Missense(1)	kidney(1)											64.0	72.0	69.0					5																	133948437		2202	4299	6501	SO:0001583	missense	51128			AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.188A>T	5.37:g.133948437T>A	ENSP00000385432:p.Glu63Val		D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883004	0.91740	.	.	ENSG00000152700	ENST00000402673;ENST00000439578;ENST00000505758;ENST00000502286	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.091787	0.85682	D	0.000000	T	0.81898	0.4920	M	0.86097	2.795	0.80722	D	1	P	0.44690	0.841	D	0.67231	0.95	D	0.84146	0.0420	10	0.87932	D	0	-22.3267	16.4237	0.83790	0.0:0.0:0.0:1.0	.	63	Q9Y6B6	SAR1B_HUMAN	V	63	ENSP00000385432:E63V;ENSP00000404997:E63V;ENSP00000425466:E63V;ENSP00000423005:E63V	ENSP00000385432:E63V	E	-	2	0	SAR1B	133976336	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.027000	0.88791	2.279000	0.76181	0.533000	0.62120	GAA		0.274	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2		NM_016103	
SLC34A1	6569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176825284	176825284	+	Silent	SNP	C	C	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr5:176825284C>A	ENST00000324417.5	+	13	2008	c.1917C>A	c.(1915-1917)ctC>ctA	p.L639L	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	639					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.L639L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCCGCCTCTAGGCTGTGG	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											32.0	37.0	35.0					5																	176825284		2147	4193	6340	SO:0001819	synonymous_variant	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1917C>A	5.37:g.176825284C>A			B4DPE3	Silent	SNP	ENST00000324417.5	37	CCDS4418.1																																																																																				0.662	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1		NM_003052	
TRAPPC4	51399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118897701	118897701	+	IGR	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr11:118897701T>C	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000545985.1_Missense_Mutation_p.T244A|SLC37A4_ENST00000330775.7_Missense_Mutation_p.T243A|SLC37A4_ENST00000538950.1_Missense_Mutation_p.T171A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.T244A	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)		p.T243A(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CCCCAGTCAGTACAGCAGGTC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											55.0	56.0	56.0					11																	118897701		1964	4147	6111	SO:0001628	intergenic_variant	2542			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118897701T>C			A8K3A5|B4DME1	Missense_Mutation	SNP	ENST00000533632.1	37	CCDS8407.1																																																																																				0.547	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1		NM_016146	
SLC38A1	81539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46623010	46623010	+	Silent	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr12:46623010T>C	ENST00000398637.5	-	5	934	c.240A>G	c.(238-240)ctA>ctG	p.L80L	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.L80L|SLC38A1_ENST00000552197.1_Silent_p.L80L|SLC38A1_ENST00000546893.1_Silent_p.L80L|SLC38A1_ENST00000549049.1_Silent_p.L80L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	80					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.L80L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TGGCGTTGCTTAGGTTAAAAA	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	59.0	61.0					12																	46623010		1867	4113	5980	SO:0001819	synonymous_variant	81539			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.240A>G	12.37:g.46623010T>C			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	CCDS41774.1																																																																																				0.433	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			
SLC9A6	10479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135080323	135080323	+	Silent	SNP	T	T	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chrX:135080323T>C	ENST00000370698.3	+	3	521	c.486T>C	c.(484-486)taT>taC	p.Y162Y	SLC9A6_ENST00000370701.1_Silent_p.Y142Y|SLC9A6_ENST00000370695.4_Silent_p.Y194Y	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	162					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.Y162Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCATATTTTATGCAGGTTATA	0.313																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	70.0	69.0					X																	135080323		2202	4297	6499	SO:0001819	synonymous_variant	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.486T>C	X.37:g.135080323T>C			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	CCDS14654.1																																																																																				0.313	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1		NM_006359	
TRHR	7201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110131518	110131518	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr8:110131518A>C	ENST00000518632.1	+	3	1382	c.1031A>C	c.(1030-1032)aAa>aCa	p.K344T	TRHR_ENST00000311762.2_Missense_Mutation_p.K344T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	344					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.K344T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCAACAGAGAAACCTGCTAAC	0.473																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											153.0	147.0	149.0					8																	110131518		2203	4299	6502	SO:0001583	missense	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1031A>C	8.37:g.110131518A>C	ENSP00000430711:p.Lys344Thr		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479586	0.44044	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.59502	0.26;0.26	5.86	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.69823	2.125	0.58432	D	0.999998	B	0.26635	0.155	B	0.29862	0.108	T	0.50625	-0.8806	10	0.23891	T	0.37	-9.5365	11.3532	0.49600	0.9292:0.0:0.0708:0.0	.	344	P34981	TRFR_HUMAN	T	344	ENSP00000430711:K344T;ENSP00000309818:K344T	ENSP00000309818:K344T	K	+	2	0	TRHR	110200694	1.000000	0.71417	0.090000	0.20809	0.901000	0.52897	8.871000	0.92346	1.041000	0.40125	0.477000	0.44152	AAA		0.473	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188321	10188321	+	Splice_Site	SNP	G	G	T	rs5030814	byFrequency	TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr3:10188321G>T	ENST00000256474.2	+	2	1303		c.e2+1		VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(13)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACACTGCCAGGTACTGACGTT	0.403		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	13	Unknown(13)	kidney(12)|endometrium(1)	GRCh37	CS004297|CS961708	VHL	S	rs5030814						166.0	158.0	161.0					3																	10188321		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.463+1G>T	3.37:g.10188321G>T			B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561929	0.65538	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163321	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.278000	0.78587	2.310000	0.77875	0.462000	0.41574	.		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
ZC3H4	23211	broad.mit.edu	37	19	47588443	47588443	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5165-01A-01D-1421-08	TCGA-B8-5165-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1579785-5c42-4bda-9825-15ead235f7f4	555a615b-6bd4-45d0-8766-35b8571fef2b	g.chr19:47588443C>A	ENST00000253048.5	-	8	1014	c.977G>T	c.(976-978)cGa>cTa	p.R326L	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	326	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R326L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCACGGCCTCGACTTAGCCC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											72.0	76.0	75.0					19																	47588443		1928	4122	6050	SO:0001583	missense	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.977G>T	19.37:g.47588443C>A	ENSP00000253048:p.Arg326Leu		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010536	0.35511	.	.	ENSG00000130749	ENST00000253048	T	0.19938	2.11	5.97	5.97	0.96955	.	0.550760	0.18629	N	0.135638	T	0.21468	0.0517	L	0.58101	1.795	0.53005	D	0.999962	P	0.35328	0.495	B	0.28553	0.091	T	0.01920	-1.1247	10	0.29301	T	0.29	.	14.6828	0.69031	0.1458:0.8542:0.0:0.0	.	326	Q9UPT8	ZC3H4_HUMAN	L	326	ENSP00000253048:R326L	ENSP00000253048:R326L	R	-	2	0	ZC3H4	52280283	0.995000	0.38212	0.996000	0.52242	0.861000	0.49209	4.647000	0.61418	2.838000	0.97847	0.561000	0.74099	CGA		0.647	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			
