#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_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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	16877063	16877063	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:16877063G>T	ENST00000377833.4	-	64	10377	c.10312C>A	c.(10312-10314)Cat>Aat	p.H3438N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3438	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAAGTGAATGAAAAAAGAGG	0.428																																																0													141.0	121.0	128.0					10																	16877063		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10312C>A	10.37:g.16877063G>T	ENSP00000367064:p.His3438Asn		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	1.680	-0.506752	0.04231	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.16897	2.31	4.84	3.92	0.45320	CUB (5);	0.160284	0.29192	N	0.012878	T	0.06872	0.0175	N	0.05510	-0.035	0.80722	D	1	B	0.14012	0.009	B	0.17098	0.017	T	0.17137	-1.0379	10	0.06494	T	0.89	.	7.5435	0.27753	0.0848:0.0:0.7511:0.1641	.	3438	O60494	CUBN_HUMAN	N	3438;279	ENSP00000367064:H3438N	ENSP00000367064:H3438N	H	-	1	0	CUBN	16917069	0.999000	0.42202	0.422000	0.26621	0.697000	0.40408	2.024000	0.41049	1.229000	0.43630	0.561000	0.74099	CAT		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	71	16	71
HAL	3034	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	96389484	96389484	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:96389484G>A	ENST00000261208.3	-	2	573	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	HAL_ENST00000541929.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000538703.1_Missense_Mutation_p.R69W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	69					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACCTCGAGCCGGTCCTCGTTG	0.612																																					NSCLC(169;943 2815 23563 30031)											0													59.0	52.0	55.0					12																	96389484		2203	4298	6501	SO:0001583	missense	3034				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.205C>T	12.37:g.96389484G>A	ENSP00000261208:p.Arg69Trp		B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.155091	0.21371	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.86030	-1.06;-1.06;-2.06	5.29	-0.128	0.13506	.	1.008340	0.07951	N	0.980828	T	0.69433	0.3110	N	0.14661	0.345	0.39529	D	0.96863	P;P	0.37864	0.61;0.536	B;B	0.36885	0.235;0.036	T	0.60737	-0.7204	10	0.66056	D	0.02	0.1674	1.5693	0.02612	0.1477:0.1902:0.2991:0.3631	.	69;69	F5GXF2;P42357	.;HUTH_HUMAN	W	69	ENSP00000261208:R69W;ENSP00000440861:R69W;ENSP00000450372:R69W	ENSP00000261208:R69W	R	-	1	2	HAL	94913615	0.030000	0.19436	0.047000	0.18901	0.017000	0.09413	0.228000	0.17814	-0.207000	0.10187	0.561000	0.74099	CGG		0.612	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			6	31	6	31
OR4N2	390429	hgsc.bcm.edu;ucsc.edu	37	14	20296023	20296023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr14:20296023G>A	ENST00000315947.1	+	1	416	c.416G>A	c.(415-417)aGa>aAa	p.R139K	OR4N2_ENST00000568211.1_Missense_Mutation_p.R139K	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGAACCCTAGAACCTGCTAT	0.532																																																0													210.0	222.0	218.0					14																	20296023		2203	4300	6503	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.416G>A	14.37:g.20296023G>A	ENSP00000319601:p.Arg139Lys		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	12.75	2.032950	0.35893	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.37915	1.17;1.17	4.53	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.139196	0.33792	N	0.004543	T	0.19525	0.0469	N	0.16098	0.37	0.09310	N	0.999999	P	0.38535	0.635	B	0.39935	0.314	T	0.06058	-1.0848	10	0.35671	T	0.21	-7.7681	5.5647	0.17165	0.3117:0.0:0.6883:0.0	.	139	Q8NGD1	OR4N2_HUMAN	K	139	ENSP00000452022:R139K;ENSP00000319601:R139K	ENSP00000319601:R139K	R	+	2	0	OR4N2	19365863	0.000000	0.05858	0.939000	0.37840	0.620000	0.37586	-0.252000	0.08806	1.244000	0.43870	0.591000	0.81541	AGA		0.532	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			30	152	30	152
TPM1	7168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	63354774	63354774	+	Splice_Site	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:63354774G>A	ENST00000403994.3	+	8	782		c.e8-1		TPM1_ENST00000317516.7_Splice_Site|TPM1_ENST00000559397.1_Splice_Site|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000560959.1_Splice_Site|TPM1_ENST00000559281.1_Splice_Site|TPM1_ENST00000358278.3_Splice_Site|TPM1_ENST00000404484.4_Splice_Site|TPM1_ENST00000559556.1_Splice_Site|TPM1_ENST00000288398.6_Splice_Site|TPM1_ENST00000267996.7_Splice_Site|TPM1_ENST00000357980.4_Splice_Site|TPM1_ENST00000334895.5_Splice_Site	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						AATCATTACAGGCTGAGACTC	0.358																																																0													104.0	105.0	105.0					15																	63354774		2203	4300	6503	SO:0001630	splice_region_variant	7168			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.703-1G>A	15.37:g.63354774G>A			B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Splice_Site	SNP	ENST00000403994.3	37	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411016	0.83340	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9103	0.92481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPM1	61141827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.780000	0.95670	0.655000	0.94253	.		0.358	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004	Intron	17	65	17	65
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)											85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			22	41	22	41
CACNG3	10368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	24372780	24372780	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:24372780G>A	ENST00000005284.3	+	4	1746	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	182					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTTTTATTTCGGAGCCTTCTC	0.453																																																0													124.0	130.0	128.0					16																	24372780		2197	4300	6497	SO:0001583	missense	10368			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.544G>A	16.37:g.24372780G>A	ENSP00000005284:p.Gly182Arg			Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734858	0.89482	.	.	ENSG00000006116	ENST00000005284	D	0.92099	-2.97	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97289	0.9923	10	0.72032	D	0.01	-13.3439	17.8423	0.88718	0.0:0.0:1.0:0.0	.	182	O60359	CCG3_HUMAN	R	182	ENSP00000005284:G182R	ENSP00000005284:G182R	G	+	1	0	CACNG3	24280281	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	GGA		0.453	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		29	130	29	130
CNOT1	23019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	58565875	58565875	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:58565875G>A	ENST00000317147.5	-	42	6496	c.6164C>T	c.(6163-6165)aCg>aTg	p.T2055M	CNOT1_ENST00000245138.4_Missense_Mutation_p.T906M|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2055					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423																																																0													111.0	104.0	106.0					16																	58565875		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6164C>T	16.37:g.58565875G>A	ENSP00000320949:p.Thr2055Met		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628600	0.87560	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.47177	0.85	5.52	5.52	0.82312	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.999;0.983;0.982	P;P;P	0.57776	0.785;0.827;0.76	T	0.62798	-0.6778	10	0.34782	T	0.22	.	19.7884	0.96447	0.0:0.0:1.0:0.0	.	906;2055;2050	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	M	2055;749;60;906;2050	ENSP00000320949:T2055M	ENSP00000245138:T906M	T	-	2	0	CNOT1	57123376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.758000	0.94735	0.650000	0.86243	ACG		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		18	105	18	105
PER1	5187	hgsc.bcm.edu;broad.mit.edu	37	17	8054005	8054005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:8054005C>T	ENST00000317276.4	-	2	257	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PER1_ENST00000581082.1_Missense_Mutation_p.G7E|PER1_ENST00000354903.5_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	7	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCATCAGCCCCTTCTAGGGG	0.677			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																															Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													23.0	27.0	26.0					17																	8054005		2198	4292	6490	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.20G>A	17.37:g.8054005C>T	ENSP00000314420:p.Gly7Glu		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803493	0.70682	.	.	ENSG00000179094	ENST00000317276	T	0.15952	2.38	5.38	5.38	0.77491	.	0.243286	0.34828	N	0.003658	T	0.14013	0.0339	N	0.19112	0.55	0.80722	D	1	B;B	0.16396	0.017;0.006	B;B	0.15870	0.005;0.014	T	0.04440	-1.0951	10	0.72032	D	0.01	-20.3712	16.6229	0.84934	0.0:1.0:0.0:0.0	.	7;7	Q6IN51;O15534	.;PER1_HUMAN	E	7	ENSP00000314420:G7E	ENSP00000314420:G7E	G	-	2	0	PER1	7994730	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.857000	0.27831	2.528000	0.85240	0.563000	0.77884	GGG		0.677	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			6	24	6	24
HDHD2	84064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	44656634	44656634	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr18:44656634T>G	ENST00000300605.6	-	4	528	c.376A>C	c.(376-378)Att>Ctt	p.I126L	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	126						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TGATTCAGAATTTGATAATGA	0.353																																																0													135.0	138.0	137.0					18																	44656634		2203	4300	6503	SO:0001583	missense	84064			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.376A>C	18.37:g.44656634T>G	ENSP00000300605:p.Ile126Leu		A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	T	9.569	1.120467	0.20877	.	.	ENSG00000167220	ENST00000300605	T	0.28666	1.6	5.75	-4.36	0.03645	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.867553	0.10351	N	0.685100	T	0.13543	0.0328	N	0.16833	0.445	0.20074	N	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.20605	-1.0270	10	0.41790	T	0.15	-0.5602	3.0648	0.06211	0.1084:0.3472:0.1172:0.4273	.	126	Q9H0R4	HDHD2_HUMAN	L	126	ENSP00000300605:I126L	ENSP00000300605:I126L	I	-	1	0	HDHD2	42910632	0.991000	0.36638	0.137000	0.22149	0.857000	0.48899	0.409000	0.21082	-0.480000	0.06803	-0.250000	0.11733	ATT		0.353	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		7	88	7	88
OR10H5	284433	hgsc.bcm.edu;broad.mit.edu	37	19	15905003	15905003	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:15905003G>C	ENST00000308940.8	+	1	243	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGGCCACTGTCTGGAGCGA	0.597																																																0													206.0	166.0	180.0					19																	15905003		2203	4300	6503	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.145G>C	19.37:g.15905003G>C	ENSP00000310704:p.Val49Leu		Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	6.330	0.429056	0.11987	.	.	ENSG00000172519	ENST00000308940	T	0.03124	4.04	3.47	-5.64	0.02466	GPCR, rhodopsin-like superfamily (1);	0.944616	0.08714	N	0.904490	T	0.06005	0.0156	M	0.66506	2.035	0.09310	N	1	B	0.25206	0.12	B	0.29176	0.099	T	0.28106	-1.0054	10	0.72032	D	0.01	.	11.899	0.52671	0.3843:0.0:0.6157:0.0	.	49	Q8NGA6	O10H5_HUMAN	L	49	ENSP00000310704:V49L	ENSP00000310704:V49L	V	+	1	0	OR10H5	15766003	0.000000	0.05858	0.001000	0.08648	0.160000	0.22226	-0.297000	0.08276	-1.354000	0.02188	-0.966000	0.02617	GTC		0.597	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			6	82	6	82
IL12RB1	3594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	18191676	18191676	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:18191676C>T	ENST00000600835.2	-	5	673	c.375G>A	c.(373-375)aaG>aaA	p.K125K	IL12RB1_ENST00000322153.7_Silent_p.K125K|IL12RB1_ENST00000593993.2_Silent_p.K125K			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	125	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGGAGACTTCTCTGTCT	0.587																																																0													96.0	88.0	91.0					19																	18191676		2203	4300	6503	SO:0001819	synonymous_variant	3594			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.375G>A	19.37:g.18191676C>T			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	CCDS54232.1																																																																																				0.587	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			19	50	19	50
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	57415453	57415453	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:57415453C>A	ENST00000313949.7	+	1	681	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	GNAS_ENST00000371098.2_Missense_Mutation_p.P98T|GNAS_ENST00000371075.3_Missense_Mutation_p.P98T|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGTCCCTCCCCGAGTGCCT	0.617			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													72.0	76.0	74.0					20																	57415453		2203	4300	6503	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.292C>A	20.37:g.57415453C>A	ENSP00000323571:p.Pro98Thr		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629523	0.28978	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.36	3.4	0.38934	.	.	.	.	.	T	0.47875	0.1469	N	0.24115	0.695	0.80722	D	1	P	0.51537	0.946	P	0.52343	0.696	T	0.50329	-0.8841	8	0.72032	D	0.01	.	10.2664	0.43457	0.198:0.802:0.0:0.0	.	98	O95467	GNAS3_HUMAN	T	98;98;98;19	.	ENSP00000323571:P98T	P	+	1	0	GNAS	56848848	0.929000	0.31497	0.844000	0.33320	0.355000	0.29361	1.923000	0.40055	1.125000	0.41998	0.585000	0.79938	CCC		0.617	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		24	52	24	52
DONSON	29980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	34958408	34958408	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:34958408G>A	ENST00000303071.5	-	3	548	c.482C>T	c.(481-483)aCg>aTg	p.T161M	AP000304.12_ENST00000429238.1_Silent_p.N122N|DONSON_ENST00000432378.1_Missense_Mutation_p.T161M|DONSON_ENST00000303113.6_Missense_Mutation_p.T161M|DONSON_ENST00000453626.1_Missense_Mutation_p.T161M	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	161					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAGGAGTCGCGTTTTAATACT	0.433											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													92.0	79.0	83.0					21																	34958408		2203	4300	6503	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.482C>T	21.37:g.34958408G>A	ENSP00000307143:p.Thr161Met	851	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.671679|4.671679	0.88348|0.88348	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	5.9|5.9	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84401|0.84401	0.5464|0.5464	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.997;0.996;0.997	D|D	0.87750|0.87750	0.2591|0.2591	5|9	.|0.87932	.|D	.|0	-25.2461|-25.2461	17.1584|17.1584	0.86797|0.86797	0.0:0.1263:0.8737:0.0|0.0:0.1263:0.8737:0.0	.|.	.|161;161;161	.|F8W8A5;C9J4K5;Q9NYP3	.|.;.;DONS_HUMAN	C|M	132|161	.|.	.|ENSP00000307143:T161M	R|T	-|-	1|2	0|0	DONSON|DONSON	33880278|33880278	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.973000|0.973000	0.67179|0.67179	9.511000|9.511000	0.98006|0.98006	1.478000|1.478000	0.48253|0.48253	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.433	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		8	63	8	63
DNAJB7	150353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	41257198	41257198	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr22:41257198C>T	ENST00000307221.4	-	1	932	c.801G>A	c.(799-801)gaG>gaA	p.E267E	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	267							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ATATACCTCCCTCATCATTGT	0.423																																																0													129.0	121.0	123.0					22																	41257198		2203	4300	6503	SO:0001819	synonymous_variant	150353			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.801G>A	22.37:g.41257198C>T			Q2M220|Q5H904|Q8WYJ7	Silent	SNP	ENST00000307221.4	37	CCDS14008.1																																																																																				0.423	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		13	88	13	88
VRK2	7444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	58311264	58311264	+	Silent	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:58311264A>G	ENST00000435505.2	+	6	922	c.177A>G	c.(175-177)gtA>gtG	p.V59V	VRK2_ENST00000440705.2_Silent_p.V36V|VRK2_ENST00000417641.2_Silent_p.V59V|VRK2_ENST00000412104.2_Silent_p.V59V|VRK2_ENST00000340157.4_Silent_p.V59V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CAAGACATGTAGTAAAAGTGG	0.308																																																0													146.0	149.0	148.0					2																	58311264		2203	4300	6503	SO:0001819	synonymous_variant	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.177A>G	2.37:g.58311264A>G			B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	CCDS1859.1																																																																																				0.308	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		14	40	14	40
GLI2	2736	hgsc.bcm.edu;broad.mit.edu	37	2	121684944	121684944	+	Silent	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:121684944G>A	ENST00000452319.1	+	3	216	c.156G>A	c.(154-156)caG>caA	p.Q52Q	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.Q52Q					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGCCGCAGCATCTCTTGC	0.502																																																0													243.0	205.0	218.0					2																	121684944		2203	4300	6503	SO:0001819	synonymous_variant	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.156G>A	2.37:g.121684944G>A				Silent	SNP	ENST00000452319.1	37	CCDS33283.1																																																																																				0.502	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		10	174	10	174
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu	37	3	52643532	52643532	+	Silent	SNP	T	T	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:52643532T>A	ENST00000296302.7	-	16	2365	c.2364A>T	c.(2362-2364)tcA>tcT	p.S788S	PBRM1_ENST00000410007.1_Silent_p.S788S|PBRM1_ENST00000356770.4_Silent_p.S756S|PBRM1_ENST00000409114.3_Silent_p.S803S|PBRM1_ENST00000409057.1_Silent_p.S788S|PBRM1_ENST00000409767.1_Silent_p.S803S|PBRM1_ENST00000337303.4_Silent_p.S788S|PBRM1_ENST00000394830.3_Silent_p.S788S			Q86U86	PB1_HUMAN	polybromo 1	788					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACTCATGACTGACACAAAAA	0.453			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		Rec	yes		3	3p21	55193	polybromo 1		E	0													101.0	95.0	97.0					3																	52643532		2203	4300	6503	SO:0001819	synonymous_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2364A>T	3.37:g.52643532T>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	74	5	74
ZBTB20	26137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	114070194	114070194	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:114070194T>C	ENST00000474710.1	-	4	909	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	ZBTB20_ENST00000462705.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Y171C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Y171C|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.Y171C|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Y171C|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	244						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCGAGTAGATCCTGTC	0.667																																					NSCLC(69;748 1344 9802 11203 30933)											0													88.0	78.0	82.0					3																	114070194		2203	4300	6503	SO:0001583	missense	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.731A>G	3.37:g.114070194T>C	ENSP00000419153:p.Tyr244Cys		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377060	0.61735	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.12361	2.75;2.75;2.75;2.75;2.69;2.75;2.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.02294	-1.1181	10	0.87932	D	0	.	15.8108	0.78561	0.0:0.0:0.0:1.0	.	244	Q9HC78	ZBT20_HUMAN	C	171;171;171;171;244;171;171	ENSP00000420324:Y171C;ENSP00000377375:Y171C;ENSP00000418092:Y171C;ENSP00000419902:Y171C;ENSP00000419153:Y244C;ENSP00000349803:Y171C;ENSP00000417307:Y171C	ENSP00000349803:Y171C	Y	-	2	0	ZBTB20	115552884	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.525000	0.81892	2.320000	0.78422	0.528000	0.53228	TAC		0.667	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		11	70	11	70
SERPINI1	5274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	167508323	167508323	+	Silent	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:167508323T>C	ENST00000295777.5	+	3	845	c.414T>C	c.(412-414)caT>caC	p.H138H	SERPINI1_ENST00000446050.2_Silent_p.H138H	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	138					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAGTAAATCATGTGGACTTCA	0.363																																																0													123.0	123.0	123.0					3																	167508323		2203	4300	6503	SO:0001819	synonymous_variant	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.414T>C	3.37:g.167508323T>C			A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	37	CCDS3203.1																																																																																				0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			22	36	22	36
LPHN3	23284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	62453140	62453140	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:62453140A>G	ENST00000514591.1	+	4	580	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	LPHN3_ENST00000508946.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000512091.2_Missense_Mutation_p.Y84C|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y152C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	84	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGATGCCTATAAGATTATG	0.363																																																0													75.0	74.0	75.0					4																	62453140		1894	4136	6030	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.251A>G	4.37:g.62453140A>G	ENSP00000422533:p.Tyr84Cys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299449	0.60195	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.40645	0.1125	M	0.65677	2.01	0.48341	D	0.999639	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.975;0.997;0.923	T	0.29305	-1.0016	10	0.87932	D	0	.	14.4832	0.67597	1.0:0.0:0.0:0.0	.	84;152;84	E9PE04;E7EN28;Q9HAR2-2	.;.;.	C	84;84;152;152;84;84;84;84;84;152;152;152;84;84;84;152;152;84	ENSP00000423388:Y84C;ENSP00000422533:Y84C;ENSP00000423787:Y152C;ENSP00000425033:Y152C;ENSP00000424120:Y84C;ENSP00000439831:Y84C;ENSP00000421476:Y152C;ENSP00000424030:Y152C;ENSP00000421372:Y152C;ENSP00000425201:Y84C;ENSP00000423434:Y84C;ENSP00000421627:Y84C;ENSP00000420931:Y152C;ENSP00000425884:Y152C;ENSP00000424258:Y84C	ENSP00000280009:Y84C	Y	+	2	0	LPHN3	62135735	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.669000	0.61575	2.084000	0.62774	0.477000	0.44152	TAT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	19	7	19
ART3	419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	77018807	77018807	+	Silent	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:77018807C>T	ENST00000355810.4	+	4	911	c.792C>T	c.(790-792)acC>acT	p.T264T	AC112719.1_ENST00000582318.1_RNA|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Silent_p.T264T|ART3_ENST00000349321.3_Silent_p.T264T	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	264					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GACTAAAAACCGAAAACTGTA	0.328																																																0													89.0	102.0	98.0					4																	77018807		2203	4299	6502	SO:0001819	synonymous_variant	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.792C>T	4.37:g.77018807C>T			Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	ENST00000355810.4	37	CCDS47079.1																																																																																				0.328	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		21	69	21	69
IMPG1	3617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	76657112	76657112	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:76657112C>T	ENST00000369950.3	-	14	2152	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGACCCCGTGCACAGCC	0.448																																					Pancreas(37;839 1141 2599 26037)											0													120.0	109.0	113.0					6																	76657112		2203	4300	6503	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1963G>A	6.37:g.76657112C>T	ENSP00000358966:p.Gly655Arg			Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995535	0.19043	.	.	ENSG00000112706	ENST00000369950	T	0.31247	1.5	5.86	-1.23	0.09465	SEA (2);	0.718157	0.12893	N	0.430419	T	0.06280	0.0162	L	0.44542	1.39	0.09310	N	0.999998	B	0.24426	0.103	B	0.25140	0.058	T	0.37979	-0.9682	10	0.16896	T	0.51	.	1.6874	0.02845	0.4062:0.2965:0.0892:0.2081	.	655	Q17R60	IMPG1_HUMAN	R	655	ENSP00000358966:G655R	ENSP00000358966:G655R	G	-	1	0	IMPG1	76713832	0.006000	0.16342	0.000000	0.03702	0.236000	0.25371	1.507000	0.35758	-0.123000	0.11745	0.650000	0.86243	GGG		0.448	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		13	49	13	49
GIMAP5	55340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150439615	150439615	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr7:150439615G>A	ENST00000358647.3	+	3	755	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	130	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACACAGTGGCCATCAGGAA	0.592																																																0													82.0	80.0	81.0					7																	150439615		2203	4300	6503	SO:0001583	missense	55340			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.388G>A	7.37:g.150439615G>A	ENSP00000351473:p.Ala130Thr		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862458	0.32884	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.34472	1.36	4.15	4.15	0.48705	AIG1 (1);	0.059327	0.64402	D	0.000001	T	0.44393	0.1291	L	0.39020	1.185	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.24190	-1.0167	10	0.15499	T	0.54	.	11.7844	0.52034	0.0:0.0:1.0:0.0	.	130	Q96F15	GIMA5_HUMAN	T	130;166	ENSP00000351473:A130T	ENSP00000351473:A130T	A	+	1	0	GIMAP5	150070548	0.015000	0.18098	0.484000	0.27391	0.055000	0.15305	1.473000	0.35387	2.143000	0.66587	0.655000	0.94253	GCC		0.592	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		63	71	63	71
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144945366	144945366	+	Missense_Mutation	SNP	G	G	A	rs376915151		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:144945366G>A	ENST00000525985.1	-	2	2127	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C				P58107	EPIPL_HUMAN	epiplakin 1	686						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGACAGCGCGCTCAGCCGAC	0.617																																																0								G	CYS/ARG	0,4366		0,0,2183	47.0	50.0	49.0		2056	3.1	0.9	8		49	1,8559		0,1,4279	no	missense	EPPK1	NM_031308.1	180	0,1,6462	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	686/2420	144945366	1,12925	2183	4280	6463	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2056C>T	8.37:g.144945366G>A	ENSP00000436337:p.Arg686Cys		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	13.56	2.272461	0.40194	0.0	1.17E-4	ENSG00000227184	ENST00000525985	T	0.68765	-0.35	5.06	3.1	0.35709	.	.	.	.	.	T	0.78616	0.4311	M	0.79258	2.445	0.32698	N	0.513301	D	0.89917	1.0	D	0.65010	0.931	T	0.82965	-0.0195	9	0.87932	D	0	.	10.4647	0.44600	0.0:0.0:0.5239:0.4761	.	686	E9PPU0	.	C	686	ENSP00000436337:R686C	ENSP00000436337:R686C	R	-	1	0	EPPK1	145017354	0.962000	0.33011	0.938000	0.37757	0.010000	0.07245	1.471000	0.35365	1.355000	0.45865	0.655000	0.94253	CGC		0.617	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	42	9	42
SPATA31D1	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	84606296	84606296	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:84606296T>A	ENST00000344803.2	+	4	958	c.911T>A	c.(910-912)tTa>tAa	p.L304*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	304					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCATCTGCTTTACCACCGGAA	0.468																																																0													278.0	239.0	252.0					9																	84606296		1983	4168	6151	SO:0001587	stop_gained	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.911T>A	9.37:g.84606296T>A	ENSP00000341988:p.Leu304*			Nonsense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795446	0.50208	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.59	-3.32	0.04973	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	7.9804	0.30181	0.0:0.3188:0.0:0.6812	.	.	.	.	X	304	.	ENSP00000341988:L304X	L	+	2	0	FAM75D1	83796116	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.079000	0.11357	-0.862000	0.04089	-0.925000	0.02716	TTA		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		58	232	58	232
SMC2	10592	hgsc.bcm.edu;broad.mit.edu	37	9	106860785	106860785	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:106860785G>C	ENST00000286398.7	+	4	665	c.377G>C	c.(376-378)aGa>aCa	p.R126T	SMC2_ENST00000303219.8_Missense_Mutation_p.R126T|SMC2_ENST00000374787.3_Missense_Mutation_p.R126T|SMC2_ENST00000374793.3_Missense_Mutation_p.R126T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	126					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACAACACCAGAGTACAGGAT	0.338																																																0													190.0	181.0	184.0					9																	106860785		2203	4299	6502	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.377G>C	9.37:g.106860785G>C	ENSP00000286398:p.Arg126Thr		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980492	0.92982	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	L	0.39692	1.235	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.985;0.999	D;P;D	0.81914	0.988;0.9;0.995	T	0.71397	-0.4605	10	0.32370	T	0.25	-23.9643	18.9014	0.92444	0.0:0.0:1.0:0.0	.	126;126;126	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	T	126	ENSP00000286398:R126T;ENSP00000363925:R126T;ENSP00000306152:R126T;ENSP00000363919:R126T	ENSP00000286398:R126T	R	+	2	0	SMC2	105900606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.691000	0.98679	2.882000	0.98803	0.655000	0.94253	AGA		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			7	122	7	122
NXF3	56000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	102338548	102338548	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:102338548C>T	ENST00000395065.3	-	4	525	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V53I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	142	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACTGGGACGAAGGGTACA	0.458																																																0													154.0	142.0	146.0					X																	102338548		2203	4300	6503	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.424G>A	X.37:g.102338548C>T	ENSP00000378504:p.Val142Ile		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.849|1.849	-0.465460|-0.465460	0.04476|0.04476	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	.|T;T	.|0.39056	.|1.1;1.1	3.54|3.54	1.11|1.11	0.20524|0.20524	.|Nuclear RNA export factor Tap, RNA-binding domain (2);Nucleotide-binding, alpha-beta plait (1);	.|0.574941	.|0.18350	.|N	.|0.143920	T|T	0.12561|0.12561	0.0305|0.0305	N|N	0.01482|0.01482	-0.84|-0.84	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.27088|0.27088	-1.0084|-1.0084	5|10	.|0.13470	.|T	.|0.59	-0.0566|-0.0566	4.7088|4.7088	0.12863|0.12863	0.0:0.2828:0.0:0.7172|0.0:0.2828:0.0:0.7172	.|.	.|142;142	.|B4DYI1;Q9H4D5	.|.;NXF3_HUMAN	H|I	18|142;53	.|ENSP00000378504:V142I;ENSP00000404347:V53I	.|ENSP00000378504:V142I	R|V	-|-	2|1	0|0	NXF3|NXF3	102225204|102225204	0.990000|0.990000	0.36364|0.36364	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	2.451000|2.451000	0.44952|0.44952	0.132000|0.132000	0.18615|0.18615	-0.296000|-0.296000	0.09543|0.09543	CGT|GTC		0.458	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		40	61	40	61
RALGAPA2	57186	broad.mit.edu;ucsc.edu	37	20	20616214	20616214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:20616214C>T	ENST00000202677.7	-	9	860	c.853G>A	c.(853-855)Gac>Aac	p.D285N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	285					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTCATTGTCTCGAGTGGTA	0.343																																																0													175.0	167.0	170.0					20																	20616214		1858	4101	5959	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.853G>A	20.37:g.20616214C>T	ENSP00000202677:p.Asp285Asn		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.387992|2.387992	0.42308|0.42308	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490|ENST00000432524	T;T|T	0.75367|0.78707	-0.93;-0.93|-1.2	5.61|5.61	4.58|4.58	0.56647|0.56647	.|.	0.163743|.	0.64402|.	D|.	0.000007|.	T|T	0.47377|0.47377	0.1442|0.1442	N|N	0.04018|0.04018	-0.295|-0.295	0.40610|0.40610	D|D	0.981668|0.981668	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.53165|0.53165	-0.8477|-0.8477	10|7	0.17832|0.05620	T|T	0.49|0.96	.|.	3.6585|3.6585	0.08230|0.08230	0.0:0.6565:0.0:0.3435|0.0:0.6565:0.0:0.3435	.|.	285|.	Q2PPJ7|.	RGPA2_HUMAN|.	N|K	285;137;137|136	ENSP00000202677:D285N;ENSP00000400901:D137N|ENSP00000414319:R136K	ENSP00000202677:D285N|ENSP00000414319:R136K	D|R	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20564214|20564214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.835000|0.835000	0.47333|0.47333	5.797000|5.797000	0.69087|0.69087	2.643000|2.643000	0.89663|0.89663	0.557000|0.557000	0.71058|0.71058	GAC|AGA		0.343	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		21	147	21	147
KRTAP10-12	386685	broad.mit.edu;ucsc.edu	37	21	46117735	46117735	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:46117735C>T	ENST00000400365.3	+	1	649	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	207	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CAGACCCGCCCGCCGCGTGCC	0.716																																																0													57.0	71.0	66.0					21																	46117735		2201	4295	6496	SO:0001583	missense	386685			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.619C>T	21.37:g.46117735C>T	ENSP00000383216:p.Arg207Cys		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.242233	0.00274	.	.	ENSG00000189169	ENST00000400365	T	0.00682	5.86	2.6	1.38	0.22167	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.025	0.32985	D	0.524247	B	0.02656	0.0	B	0.01281	0.0	T	0.27088	-1.0084	9	0.02654	T	1	.	6.1276	0.20187	0.0:0.1422:0.0:0.8578	.	207	P60413	KR10C_HUMAN	C	207	ENSP00000383216:R207C	ENSP00000383216:R207C	R	+	1	0	KRTAP10-12	44942163	0.960000	0.32886	0.950000	0.38849	0.002000	0.02628	1.147000	0.31602	0.065000	0.16485	-1.054000	0.02325	CGC		0.716	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		22	63	22	63
PRKDC	5591	broad.mit.edu;ucsc.edu	37	8	48744441	48744441	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:48744441C>A	ENST00000314191.2	-	61	8252	c.8196G>T	c.(8194-8196)atG>atT	p.M2732I	PRKDC_ENST00000338368.3_Missense_Mutation_p.M2732I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2733	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTGGTCCCTCATAAACCGTC	0.542								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)											0													197.0	199.0	199.0					8																	48744441		1977	4169	6146	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8196G>T	8.37:g.48744441C>A	ENSP00000313420:p.Met2732Ile		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	4.933	0.173270	0.09391	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02140	4.5;4.43	5.41	3.03	0.35002	.	0.315219	0.25642	N	0.029267	T	0.00936	0.0031	N	0.01352	-0.895	0.25509	N	0.987473	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47736	-0.9094	10	0.31617	T	0.26	.	6.5663	0.22513	0.0:0.1435:0.1308:0.7257	.	2732;2733	E7EUY0;P78527	.;PRKDC_HUMAN	I	2732	ENSP00000313420:M2732I;ENSP00000345182:M2732I	ENSP00000313420:M2732I	M	-	3	0	PRKDC	48906994	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	0.658000	0.24979	0.446000	0.26666	-1.058000	0.02302	ATG		0.542	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		28	167	28	167
TRPV2	51393	broad.mit.edu;ucsc.edu	37	17	16336965	16336965	+	Silent	SNP	C	C	T	rs574911734	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:16336965C>T	ENST00000338560.7	+	13	2466	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	TRPV2_ENST00000577397.1_Silent_p.T259T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	689					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGATGCTGACCGTTGGCACTA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		20887	0.002		0.0	False		,,,				2504	0.0															0													144.0	124.0	131.0					17																	16336965		2203	4300	6503	SO:0001819	synonymous_variant	51393			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2067C>T	17.37:g.16336965C>T			A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	CCDS32576.1																																																																																				0.587	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		17	73	17	73
TICAM1	148022	broad.mit.edu;ucsc.edu	37	19	4817206	4817206	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:4817206T>C	ENST00000248244.5	-	2	1413	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	395	TIR.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACAAAGTTATAGAATTTCTG	0.592																																																0													43.0	45.0	44.0					19																	4817206		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1184A>G	19.37:g.4817206T>C	ENSP00000248244:p.Tyr395Cys		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.381202	0.61845	.	.	ENSG00000127666	ENST00000248244	T	0.03772	3.81	4.42	1.88	0.25563	.	0.240225	0.21571	N	0.072406	T	0.09862	0.0242	L	0.46157	1.445	0.39600	D	0.969719	D	0.67145	0.996	P	0.57371	0.819	T	0.08513	-1.0718	10	0.87932	D	0	-13.2331	7.6923	0.28575	0.5778:0.0:0.0:0.4222	.	395	Q8IUC6	TCAM1_HUMAN	C	395	ENSP00000248244:Y395C	ENSP00000248244:Y395C	Y	-	2	0	TICAM1	4768206	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	3.231000	0.51294	0.628000	0.30357	0.260000	0.18958	TAT		0.592	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		22	25	22	25
COPA	1314	broad.mit.edu;ucsc.edu	37	1	160268752	160268752	+	Silent	SNP	T	T	C			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:160268752T>C	ENST00000241704.7	-	19	2089	c.1860A>G	c.(1858-1860)ctA>ctG	p.L620L	COPA_ENST00000368069.3_Silent_p.L629L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	620					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGCCAACTAGTTTGGCAT	0.443																																																0													144.0	140.0	142.0					1																	160268752		2203	4300	6503	SO:0001819	synonymous_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1860A>G	1.37:g.160268752T>C			Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	CCDS1202.1																																																																																				0.443	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		17	65	17	65
DDA1	79016	broad.mit.edu;ucsc.edu	37	19	17425150	17425150	+	Nonsense_Mutation	SNP	C	C	T	rs573758701		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:17425150C>T	ENST00000359866.4	+	3	212	c.88C>T	c.(88-90)Cga>Tga	p.R30*		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGCAGAACCGACGGCCCTC	0.607																																																0													111.0	84.0	93.0					19																	17425150		2203	4300	6503	SO:0001587	stop_gained	79016			BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.88C>T	19.37:g.17425150C>T	ENSP00000352928:p.Arg30*			Nonsense_Mutation	SNP	ENST00000359866.4	37	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199477	0.94997	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.69	3.63	0.41609	.	0.070953	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8617	8.9439	0.35747	0.3848:0.6152:0.0:0.0	.	.	.	.	X	30	.	ENSP00000352928:R30X	R	+	1	2	DDA1	17286150	1.000000	0.71417	0.997000	0.53966	0.784000	0.44337	3.126000	0.50477	2.157000	0.67596	0.561000	0.74099	CGA		0.607	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		5	38	5	38
NOTCH1	4851	ucsc.edu	37	9	139400002	139400002	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:139400002C>T	ENST00000277541.6	-	25	4421	c.4346G>A	c.(4345-4347)tGc>tAc	p.C1449Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1449					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCAGCTCGCACGCCTCCTC	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													21.0	26.0	24.0					9																	139400002		2094	4179	6273	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4346G>A	9.37:g.139400002C>T	ENSP00000277541:p.Cys1449Tyr		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107133	0.56291	.	.	ENSG00000148400	ENST00000277541	D	0.90069	-2.61	4.25	4.25	0.50352	Notch domain (4);	0.000000	0.85682	U	0.000000	D	0.95385	0.8502	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96254	0.9185	10	0.59425	D	0.04	.	15.6242	0.76840	0.0:1.0:0.0:0.0	.	1449	P46531	NOTC1_HUMAN	Y	1449	ENSP00000277541:C1449Y	ENSP00000277541:C1449Y	C	-	2	0	NOTCH1	138519823	1.000000	0.71417	0.940000	0.37924	0.104000	0.19210	7.330000	0.79181	1.900000	0.55004	0.579000	0.79373	TGC		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		2	24	2	24
