#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	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_dbSNPPopFreq	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
PGD	5226	mdanderson.org	37	1	10459762	10459762	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:10459762G>T	ENST00000270776.8	+	2	122		c.e2+1		PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000538557.1_Splice_Site	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGGCTTTGTGGTAAGCGGCGT	0.567																																					.													.	.			0			c.84+1G>T												95.0	89.0	91.0					1																	10459762		2203	4300	6503	SO:0001630	splice_region_variant	5226	exon2			TTTGTGGTAAGCG	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.84+1G>T	1.37:g.10459762G>T			17	0	0		37	0.08	3	NM_002631	0		0	A8K2Y9|B4DQJ8|Q9BWD8	Splice_Site	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574989	0.86542	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	.	.	.	5.08	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1568	0.72749	0.0:0.0:0.8576:0.1424	.	.	.	.	.	-1	.	.	.	+	.	.	PGD	10382349	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.782000	0.85680	1.248000	0.43934	0.555000	0.69702	.			0.567	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005398.1		NM_002631	Intron
HTR1D	3352	mdanderson.org	37	1	23520067	23520067	+	Missense_Mutation	SNP	G	G	T	rs148842291		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:23520067G>T	ENST00000374619.1	-	1	1155	c.646C>A	c.(646-648)Cta>Ata	p.L216I	HTR1D_ENST00000314113.3_Missense_Mutation_p.L216I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGGCCATATAGGATGATGAGC	0.577																																					p.L216I													.	.			0			c.C646A												60.0	65.0	63.0					1																	23520067		2203	4300	6503	SO:0001583	missense	3352	exon1			CATATAGGATGAT	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.646C>A	1.37:g.23520067G>T	ENSP00000363748:p.Leu216Ile		64	0	0		47	0.06	3	NM_000864	0		0		Missense_Mutation	SNP	ENST00000374619.1	37	CCDS231.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756956	0.49362	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.39787	1.06;1.06	5.57	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.55940	0.1952	L	0.56396	1.775	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.56613	-0.7950	10	0.59425	D	0.04	.	8.3625	0.32367	0.2402:0.0:0.7598:0.0	.	216	P28221	5HT1D_HUMAN	I	216	ENSP00000313661:L216I;ENSP00000363748:L216I	ENSP00000313661:L216I	L	-	1	2	HTR1D	23392654	1.000000	0.71417	0.995000	0.50966	0.414000	0.31173	3.547000	0.53663	1.374000	0.46228	-0.140000	0.14226	CTA			0.577	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008924.1		NM_000864	
NCDN	23154	mdanderson.org	37	1	36026280	36026280	+	Silent	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:36026280C>T	ENST00000373243.2	+	3	911	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.G176G|NCDN_ENST00000373253.3_Silent_p.G159G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	176					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCTGGTGGCACCGTGTCTG	0.647																																					p.G176G													.	.			0			c.C528T												58.0	55.0	56.0					1																	36026280		2203	4300	6503	SO:0001819	synonymous_variant	23154	exon3			TGGTGGCACCGTG	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.528C>T	1.37:g.36026280C>T			45	0	0		45	0.07	3	NM_014284	37	0.00	0	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	CCDS392.1																																																																																					0.647	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131298.1		NM_014284	
CMPK1	51727	mdanderson.org	37	1	47840594	47840594	+	Missense_Mutation	SNP	G	G	A	rs149887048		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:47840594G>A	ENST00000371873.5	+	4	634	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	CMPK1_ENST00000450808.2_Missense_Mutation_p.R113Q	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic											endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						TGTATTGAACGATGTCTTGAG	0.348																																					p.R162Q													.	.			0			c.G485A							G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	75.0	73.0	74.0		338,485	5.5	1.0	1	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CMPK1	NM_001136140.1,NM_016308.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	113/180,162/229	47840594	1,13005	2203	4300	6503	SO:0001583	missense	51727	exon4			TTGAACGATGTCT	AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.485G>A	1.37:g.47840594G>A	ENSP00000360939:p.Arg162Gln		60	0	0		54	0.06	3	NM_016308	219	0.00	0		Missense_Mutation	SNP	ENST00000371873.5	37	CCDS549.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994248	0.93167	0.0	1.16E-4	ENSG00000162368	ENST00000371873;ENST00000450808	D;D	0.86769	-2.17;-2.17	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96935	0.8999	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98196	1.0465	10	0.87932	D	0	-6.926	19.6745	0.95926	0.0:0.0:1.0:0.0	.	113;162	E9PGI8;B2R6S5	.;.	Q	162;113	ENSP00000360939:R162Q;ENSP00000398192:R113Q	ENSP00000360939:R162Q	R	+	2	0	CMPK1	47613181	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	2.880000	0.98712	0.650000	0.86243	CGA	0		0.348	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021646.2		NM_016308	
ABCD3	5825	mdanderson.org	37	1	94980702	94980702	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:94980702G>T	ENST00000370214.4	+	22	1870	c.1846G>T	c.(1846-1848)Gtt>Ttt	p.V616F	ABCD3_ENST00000454898.2_Splice_Site_p.V640F|ABCD3_ENST00000394233.2_Splice_Site_p.V506F|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Splice_Site_p.V543F	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	616	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470). {ECO:0000305}.	ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTGTATTAGGTTGGCATCAC	0.333																																					p.V616F													.	.			0			c.G1846T												154.0	146.0	148.0					1																	94980702		2203	4299	6502	SO:0001630	splice_region_variant	5825	exon22			TATTAGGTTGGCA	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1846-1G>T	1.37:g.94980702G>T			49	0	0		40	0.08	3	NM_002858	46	0.00	0	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733902	0.89482	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99843	-7.11;-7.11;-7.11;-7.11	5.98	5.98	0.97165	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	L	0.59912	1.85	0.80722	D	1	P;D;P	0.89917	0.93;1.0;0.877	P;D;B	0.85130	0.454;0.997;0.378	D	0.97599	1.0122	10	0.72032	D	0.01	-18.6691	20.0532	0.97636	0.0:0.0:1.0:0.0	.	640;506;616	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	F	506;640;543;616	ENSP00000377780:V506F;ENSP00000403357:V640F;ENSP00000440692:V543F;ENSP00000359233:V616F	ENSP00000359233:V616F	V	+	1	0	ABCD3	94753290	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.864000	0.99589	2.835000	0.97688	0.650000	0.86243	GTT			0.333	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000029597.1		NM_002858	Missense_Mutation
RP11-435B5.5	0	broad.mit.edu	37	1	143392853	143392853	+	lincRNA	DEL	T	T	-	rs201541314		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:143392853delT	ENST00000428624.1	+	0	2279				RP11-435B5.4_ENST00000423249.1_lincRNA																							TCTCCTCTCATTTTTTTTTTT	0.249																																					.													.	.			0			.																																											0	.			CTCTCATTTTTTT																													1.37:g.143392853delT			6	0	0		7	0.43	3	.	0		0		RNA	DEL	ENST00000428624.1	37																																																																																						0.249	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA		OTTHUMT00000037971.1			
ETV3	2117	broad.mit.edu	37	1	157095428	157095428	+	Silent	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:157095428A>G	ENST00000368192.4	-	5	808	c.744T>C	c.(742-744)gcT>gcC	p.A248A		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	248					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTGGAGAGACAGCGAAGGGAC	0.572																																					p.A248A													.	ETV3	50		0			c.T744C												122.0	117.0	118.0					1																	157095428		692	1591	2283	SO:0001819	synonymous_variant	2117	exon5			AGAGACAGCGAAG	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.744T>C	1.37:g.157095428A>G			139	0	0		148	0.03	4	NM_001145312	16	0.00	0	B4E3M7|Q8TAC8|Q9BX30	Silent	SNP	ENST00000368192.4	37	CCDS44250.1																																																																																					0.572	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082843.2		NM_005240	
SPTA1	6708	broad.mit.edu	37	1	158607904	158607904	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:158607904G>T	ENST00000368147.4	-	36	5288	c.5108C>A	c.(5107-5109)gCt>gAt	p.A1703D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1703					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGGTGTGCAGCTGCCAATTC	0.443																																					p.A1703D													.	SPTA1	720		0			c.C5108A												126.0	118.0	121.0					1																	158607904		1910	4118	6028	SO:0001583	missense	6708	exon36			TGTGCAGCTGCCA	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5108C>A	1.37:g.158607904G>T	ENSP00000357129:p.Ala1703Asp		92	0	0		111	0.05	5	NM_003126	0		0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903355	0.52333	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53423	0.62;0.62	5.36	3.44	0.39384	.	0.000000	0.32120	N	0.006556	T	0.24699	0.0599	L	0.58583	1.82	0.09310	N	0.999999	B	0.32040	0.353	B	0.31547	0.132	T	0.14337	-1.0476	10	0.22109	T	0.4	.	14.8858	0.70567	0.0:0.4098:0.5902:0.0	.	1703	P02549	SPTA1_HUMAN	D	1703	ENSP00000357130:A1703D;ENSP00000357129:A1703D	ENSP00000357129:A1703D	A	-	2	0	SPTA1	156874528	0.970000	0.33590	0.469000	0.27204	0.685000	0.39939	4.980000	0.63812	0.788000	0.33755	0.591000	0.81541	GCT			0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051851.3		NM_003126	
VSIG8	391123	mdanderson.org	37	1	159824642	159824642	+	Silent	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr1:159824642G>A	ENST00000368100.1	-	7	1281	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	SNORD64_ENST00000390859.1_RNA|C1orf204_ENST00000368102.1_Silent_p.C79C|C1orf204_ENST00000491974.1_5'UTR	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	382						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GGCCCGCTTCGCAGGCGGCGG	0.746																																					p.C382C													.	.			0			c.C1146T												2.0	2.0	2.0					1																	159824642		1070	2004	3074	SO:0001819	synonymous_variant	391123	exon7			CGCTTCGCAGGCG		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.1146C>T	1.37:g.159824642G>A			9	0	0		16	0.13	2	NM_001013661	0		0	Q5VU14	Silent	SNP	ENST00000368100.1	37	CCDS30913.1																																																																																					0.746	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085978.8		NM_001013661	
MPP7	143098	bcgsc.ca	37	10	28438946	28438946	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:28438946G>T	ENST00000375732.1	-	4	458	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	MPP7_ENST00000540098.1_Missense_Mutation_p.P67T|MPP7_ENST00000337532.5_Missense_Mutation_p.P67T|MPP7_ENST00000375719.3_Missense_Mutation_p.P67T|MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000481244.1_5'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	67	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGGAGAATGGGCACCGGACTC	0.498																																					p.P67T													.	MPP7	60		0			c.C199A												75.0	71.0	72.0					10																	28438946		2203	4300	6503	SO:0001583	missense	143098	exon6			GAATGGGCACCGG	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.199C>A	10.37:g.28438946G>T	ENSP00000364884:p.Pro67Thr		49	0	0		23	0.17	4	NM_173496	7	0.00	0	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247861	0.80024	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.54	5.54	0.83059	L27, C-terminal (1);L27 (2);	0.046687	0.85682	D	0.000000	T	0.39279	0.1072	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11155	-1.0599	10	0.87932	D	0	.	19.4932	0.95060	0.0:0.0:1.0:0.0	.	67	Q5T2T1	MPP7_HUMAN	T	67	ENSP00000364884:P67T;ENSP00000337907:P67T;ENSP00000438693:P67T;ENSP00000364871:P67T	ENSP00000337907:P67T	P	-	1	0	MPP7	28478952	1.000000	0.71417	0.932000	0.37286	0.982000	0.71751	6.660000	0.74417	2.609000	0.88269	0.484000	0.47621	CCC			0.498	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047345.1		NM_173496	
EPC1	80314	mdanderson.org	37	10	32576132	32576132	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:32576132G>A	ENST00000263062.8	-	7	1315	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	EPC1_ENST00000319778.6_Missense_Mutation_p.A349V|EPC1_ENST00000375110.2_Missense_Mutation_p.A299V	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	349					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				AGTAGCAGCGGCAGACGATGG	0.453																																					p.A349V													.	.			0			c.C1046T												152.0	131.0	138.0					10																	32576132		2203	4300	6503	SO:0001583	missense	80314	exon7			GCAGCGGCAGACG	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1046C>T	10.37:g.32576132G>A	ENSP00000263062:p.Ala349Val		56	0	0		39	0.08	3	NM_001272004	40	0.00	0	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998398	0.54147	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.65549	-0.16;-0.16;-0.16	5.59	5.59	0.84812	.	0.180807	0.48767	D	0.000169	T	0.54208	0.1844	L	0.44542	1.39	0.42662	D	0.993485	B;B;B;B	0.14012	0.009;0.001;0.002;0.001	B;B;B;B	0.16289	0.009;0.009;0.015;0.002	T	0.52525	-0.8564	10	0.51188	T	0.08	-10.8768	12.1448	0.54018	0.0785:0.0:0.9215:0.0	.	349;299;349;349	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	V	299;349;349	ENSP00000364251:A299V;ENSP00000318559:A349V;ENSP00000263062:A349V	ENSP00000263062:A349V	A	-	2	0	EPC1	32616138	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.380000	0.52448	2.633000	0.89246	0.557000	0.71058	GCC			0.453	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000047484.1			
ZMIZ1	57178	mdanderson.org	37	10	81067288	81067288	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:81067288C>T	ENST00000334512.5	+	23	3367	c.2795C>T	c.(2794-2796)gCc>gTc	p.A932V	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.A85V	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	932	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AACAACATGGCCGCCCTCGAG	0.607																																					p.A932V													.	.			0			c.C2795T												62.0	62.0	62.0					10																	81067288		2203	4300	6503	SO:0001583	missense	57178	exon23			ACATGGCCGCCCT	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2795C>T	10.37:g.81067288C>T	ENSP00000334474:p.Ala932Val		58	0	0		49	0.06	3	NM_020338	61	0.00	0	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439567	0.43326	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.31247	1.5	4.57	4.57	0.56435	.	0.000000	0.41294	D	0.000919	T	0.24470	0.0593	L	0.29908	0.895	0.39533	D	0.968699	B;B	0.25441	0.126;0.004	B;B	0.25614	0.062;0.012	T	0.06991	-1.0796	10	0.17369	T	0.5	-17.0006	17.8248	0.88661	0.0:1.0:0.0:0.0	.	85;932	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	V	932;862;833;85	ENSP00000334474:A932V	ENSP00000334474:A932V	A	+	2	0	ZMIZ1	80737294	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.303000	0.59098	2.269000	0.75478	0.650000	0.86243	GCC			0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048944.2		NM_020338	
SLIT1	6585	broad.mit.edu	37	10	98781011	98781011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:98781011G>T	ENST00000266058.4	-	26	2987	c.2742C>A	c.(2740-2742)tgC>tgA	p.C914*	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Nonsense_Mutation_p.C914*	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	914	LRRCT 4.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTCACCTTGGCATTCAAACT	0.602																																					p.C914X													.	SLIT1	154		0			c.C2742A												57.0	46.0	50.0					10																	98781011		2203	4300	6503	SO:0001587	stop_gained	6585	exon26			ACCTTGGCATTCA	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2742C>A	10.37:g.98781011G>T	ENSP00000266058:p.Cys914*		164	0	0		122	0.03	4	NM_003061	0		0	Q5T0V1|Q8WWZ2|Q9UIL7	Nonsense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	40	7.995932	0.98602	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1698	0.89742	0.0:0.0:1.0:0.0	.	.	.	.	X	914	.	ENSP00000266058:C914X	C	-	3	2	SLIT1	98771001	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.409000	0.66374	2.521000	0.84997	0.462000	0.41574	TGC			0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061	
PSD	5662	mdanderson.org	37	10	104171931	104171931	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:104171931G>T	ENST00000020673.5	-	7	2328	c.1802C>A	c.(1801-1803)aCg>aAg	p.T601K	PSD_ENST00000406432.1_Missense_Mutation_p.T601K	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	601	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGTCATGCCCGTGAAGACAAA	0.587																																					p.T601K													PSD_ENST00000020673,NS,carcinoma,+1,2	PSD_ENST00000020673	1	2	0			c.C1802A												151.0	173.0	166.0					10																	104171931		2203	4300	6503	SO:0001583	missense	5662	exon8			ATGCCCGTGAAGA	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1802C>A	10.37:g.104171931G>T	ENSP00000020673:p.Thr601Lys		98	0	0		54	0.06	3	NM_001270965	0		0	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975336	0.74360	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.52526	0.66;0.66	5.32	5.32	0.75619	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.120317	0.56097	D	0.000040	T	0.55513	0.1925	L	0.47078	1.49	0.38756	D	0.954216	B	0.34181	0.44	P	0.45856	0.495	T	0.58526	-0.7621	10	0.49607	T	0.09	.	18.9992	0.92826	0.0:0.0:1.0:0.0	.	601	A5PKW4	PSD1_HUMAN	K	601;504;601	ENSP00000020673:T601K;ENSP00000384830:T601K	ENSP00000020673:T601K	T	-	2	0	PSD	104161921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.141000	0.64814	2.500000	0.84329	0.561000	0.74099	ACG			0.587	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050041.2			
CFAP43	80217	mdanderson.org	37	10	105932290	105932290	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr10:105932290G>T	ENST00000278064.2	-	20	2582	c.2257C>A	c.(2257-2259)Ctg>Atg	p.L753M	WDR96_ENST00000357060.3_Missense_Mutation_p.L822M|WDR96_ENST00000428666.1_Missense_Mutation_p.L823M																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCATATTCAGAATCTGAATG	0.294																																					p.L822M													.	.			0			c.C2464A												58.0	52.0	54.0					10																	105932290		2201	4298	6499	SO:0001583	missense	80217	exon20			TATTCAGAATCTG																												ENST00000278064.2:c.2257C>A	10.37:g.105932290G>T	ENSP00000278064:p.Leu753Met		88	0	0		49	0.06	3	NM_025145	0		0		Missense_Mutation	SNP	ENST00000278064.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.100|9.100	1.003833|1.003833	0.19199|0.19199	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000434629|ENST00000357060;ENST00000428666;ENST00000278064	.|T;T;T	.|0.14022	.|2.54;2.55;2.55	5.59|5.59	-1.17|-1.17	0.09648|0.09648	.|.	.|0.600040	.|0.15895	.|N	.|0.239375	T|T	0.09862|0.09862	0.0242|0.0242	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.24920	.|0.012;0.114;0.083	.|B;B;B	.|0.20955	.|0.017;0.032;0.017	T|T	0.20773|0.20773	-1.0265|-1.0265	5|10	.|0.46703	.|T	.|0.11	.|.	4.2747|4.2747	0.10802|0.10802	0.068:0.242:0.3355:0.3545|0.068:0.242:0.3355:0.3545	.|.	.|823;823;822	.|G5E9L1;B4DHB6;Q8NDM7	.|.;.;WDR96_HUMAN	L|M	182|822;823;753	.|ENSP00000349568:L822M;ENSP00000400289:L823M;ENSP00000278064:L753M	.|ENSP00000278064:L753M	F|L	-|-	3|1	2|2	WDR96|WDR96	105922280|105922280	0.642000|0.642000	0.27260|0.27260	0.000000|0.000000	0.03702|0.03702	0.095000|0.095000	0.18619|0.18619	0.788000|0.788000	0.26872|0.26872	-0.533000|-0.533000	0.06323|0.06323	-0.912000|-0.912000	0.02778|0.02778	TTC|CTG			0.294	WDR96-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000050200.1			
TUB	7275	mdanderson.org	37	11	8118340	8118340	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr11:8118340G>T	ENST00000299506.2	+	6	823	c.674G>T	c.(673-675)aGg>aTg	p.R225M	TUB_ENST00000305253.4_Missense_Mutation_p.R280M|TUB_ENST00000534099.1_Missense_Mutation_p.R231M	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	225					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCTACTAGCAGGAAGTCCGTC	0.532																																					p.R280M													.	.			0			c.G839T												86.0	80.0	82.0					11																	8118340		2201	4296	6497	SO:0001583	missense	7275	exon7			CTAGCAGGAAGTC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.674G>T	11.37:g.8118340G>T	ENSP00000299506:p.Arg225Met		43	0	0		38	0.08	3	NM_003320	13	0.00	0	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595641	0.46318	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.85861	-2.02;-2.04;-2.02	4.78	2.46	0.29980	Tubby, N-terminal (1);	0.179046	0.64402	D	0.000015	T	0.78729	0.4329	N	0.22421	0.69	0.46113	D	0.998878	P;D;D	0.56287	0.731;0.958;0.975	B;P;P	0.53401	0.322;0.535;0.725	T	0.75769	-0.3201	10	0.48119	T	0.1	-17.2464	4.2755	0.10806	0.5129:0.0:0.4871:0.0	.	231;225;280	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	M	231;280;225	ENSP00000434400:R231M;ENSP00000305426:R280M;ENSP00000299506:R225M	ENSP00000299506:R225M	R	+	2	0	TUB	8074916	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.228000	0.58619	1.130000	0.42092	0.491000	0.48974	AGG			0.532	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385823.1		NM_003320	
MS4A15	219995	mdanderson.org	37	11	60531240	60531240	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr11:60531240G>T	ENST00000405633.3	+	2	113	c.34G>T	c.(34-36)Gtt>Ttt	p.V12F	MS4A15_ENST00000528170.1_Missense_Mutation_p.V12F|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	12						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						TGGAGTGTTTGTTGTCATCCC	0.547																																					p.V12F													.	.			0			c.G34T												101.0	100.0	101.0					11																	60531240		2049	4194	6243	SO:0001583	missense	219995	exon2			GTGTTTGTTGTCA	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.34G>T	11.37:g.60531240G>T	ENSP00000386022:p.Val12Phe		63	0	0		47	0.06	3	NM_001098835	0		0	A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513363	0.44660	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.25250	1.81;2.34	5.21	5.21	0.72293	.	.	.	.	.	T	0.36496	0.0969	N	0.24115	0.695	0.31008	N	0.719579	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.23297	-1.0192	9	0.39692	T	0.17	-3.3375	14.2397	0.65950	0.0:0.0:1.0:0.0	.	12;12	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	F	12	ENSP00000434165:V12F;ENSP00000386022:V12F	ENSP00000386022:V12F	V	+	1	0	MS4A15	60287816	0.999000	0.42202	0.969000	0.41365	0.069000	0.16628	2.042000	0.41222	2.404000	0.81709	0.462000	0.41574	GTT			0.547	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395618.1			
C1R	715	broad.mit.edu	37	12	7188347	7188347	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:7188347G>T	ENST00000542285.1	-	11	1600	c.1451C>A	c.(1450-1452)cCc>cAc	p.P484H				P00736	C1R_HUMAN	complement component 1, r subcomponent	536	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGCGGATGGGGTGATTTCC	0.547																																					.													.	C1R	49		0			.												127.0	135.0	132.0					12																	7188347		2197	4298	6495	SO:0001583	missense	715	.			CGGATGGGGTGAT	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1451C>A	12.37:g.7188347G>T	ENSP00000438615:p.Pro484His		92	0	0		204	0.03	6	.	2165	0.00	1	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	G	11.79	1.744681	0.30865	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88509	-2.39	5.44	5.44	0.79542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.077847	0.53938	D	0.000042	D	0.87767	0.6260	.	.	.	0.53005	D	0.999967	P	0.42337	0.776	B	0.41374	0.355	D	0.87327	0.2322	9	0.40728	T	0.16	.	19.2561	0.93947	0.0:0.0:1.0:0.0	.	536	P00736	C1R_HUMAN	H	499;484	ENSP00000438615:P484H	ENSP00000290575:P499H	P	-	2	0	C1R	7058602	1.000000	0.71417	0.943000	0.38184	0.163000	0.22366	4.942000	0.63547	2.540000	0.85666	0.591000	0.81541	CCC			0.547	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_001733	
PPHLN1	51535	mdanderson.org	37	12	42729726	42729726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:42729726G>T	ENST00000395568.2	+	2	106	c.22G>T	c.(22-24)Gaa>Taa	p.E8*	PPHLN1_ENST00000552761.1_Nonsense_Mutation_p.E15*|PPHLN1_ENST00000449194.2_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000358314.7_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000549190.1_Nonsense_Mutation_p.E26*|PPHLN1_ENST00000395580.3_Nonsense_Mutation_p.E15*|PPHLN1_ENST00000317560.9_Nonsense_Mutation_p.E15*|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000432191.2_Nonsense_Mutation_p.E8*|PPHLN1_ENST00000256678.8_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	8					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GGGACGATATGAATATGAAAG	0.368																																					p.E15X													.	.			0			c.G43T												136.0	139.0	138.0					12																	42729726		2203	4300	6503	SO:0001587	stop_gained	51535	exon3			CGATATGAATATG	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.22G>T	12.37:g.42729726G>T	ENSP00000378935:p.Glu8*		70	0	0		47	0.06	3	NM_201440	50	0.00	0	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Nonsense_Mutation	SNP	ENST00000395568.2	37	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227754	0.95173	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191;ENST00000546750;ENST00000547847	.	.	.	5.34	4.44	0.53790	.	0.570316	0.19389	N	0.115454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-0.7079	10.0143	0.42006	0.091:0.0:0.909:0.0	.	.	.	.	X	26;15;8;8;8;8;15;15;8;15;8	.	ENSP00000322048:E15X	E	+	1	0	PPHLN1	41015993	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.486000	0.53215	1.617000	0.50277	0.650000	0.86243	GAA			0.368	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000404047.1		NM_201515	
STAC3	246329	broad.mit.edu	37	12	57642942	57642942	+	Silent	SNP	C	C	T	rs143709026		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:57642942C>T	ENST00000332782.2	-	3	417	c.216G>A	c.(214-216)gaG>gaA	p.E72E	STAC3_ENST00000554578.1_Silent_p.E33E|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	72	Poly-Glu.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						cctcctcctcctcttcttcct	0.537																																					p.E72E													STAC3,caecum,carcinoma,0,1	STAC3	32	1	0			c.G216A							C		1,4405	2.1+/-5.4	0,1,2202	64.0	65.0	64.0		216	-4.2	0.4	12	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	STAC3	NM_145064.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		72/365	57642942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	246329	exon3			CTCCTCCTCTTCT	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.216G>A	12.37:g.57642942C>T			48	0	0		45	0.07	3	NM_145064	2	0.00	0	B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	CCDS8936.1																																																																																					0.537	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412724.2		NM_145064	
NAV3	89795	broad.mit.edu	37	12	78574724	78574724	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:78574724G>T	ENST00000397909.2	+	30	5764	c.5591G>T	c.(5590-5592)cGg>cTg	p.R1864L	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.R1842L|NAV3_ENST00000228327.6_Missense_Mutation_p.R1842L|NAV3_ENST00000266692.7_Missense_Mutation_p.R1665L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1864						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGCCTACTCGGCCACCGTCA	0.423										HNSCC(70;0.22)																											p.R1842L													NAV3,caecum,carcinoma,+1,1	NAV3	506	1	0			c.G5525T												102.0	104.0	104.0					12																	78574724		1988	4165	6153	SO:0001583	missense	89795	exon29			CTACTCGGCCACC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5591G>T	12.37:g.78574724G>T	ENSP00000381007:p.Arg1864Leu		167	0	0		174	0.03	5	NM_014903	10	0.00	0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.296939	0.95574	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.29397	1.63;1.63;1.63;1.57;2.44	6.02	6.02	0.97574	.	0.000000	0.37669	U	0.001994	T	0.52757	0.1754	L	0.47716	1.5	0.80722	D	1	B;D;D;D	0.89917	0.37;0.996;1.0;0.998	B;D;D;D	0.87578	0.075;0.992;0.998;0.994	T	0.44772	-0.9306	10	0.59425	D	0.04	-15.3249	20.547	0.99278	0.0:0.0:1.0:0.0	.	1842;1665;1864;1842	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1842;1864;1842;1665;456;464	ENSP00000446132:R1842L;ENSP00000381007:R1864L;ENSP00000228327:R1842L;ENSP00000266692:R1665L;ENSP00000448303:R464L	ENSP00000228327:R1842L	R	+	2	0	NAV3	77098855	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	7.636000	0.83301	2.850000	0.98022	0.650000	0.86243	CGG			0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000406812.1		NM_001024383	
KDM2B	84678	mdanderson.org	37	12	121878619	121878619	+	Splice_Site	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:121878619C>T	ENST00000377071.4	-	21	3682	c.3610G>A	c.(3610-3612)Ggt>Agt	p.G1204S	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Splice_Site_p.G572S|KDM2B_ENST00000377069.4_Splice_Site_p.G1135S	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1204					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGCAACTCACCTGGCCTGTTG	0.607																																					p.G1204S													.	.			0			c.G3610A												34.0	40.0	38.0					12																	121878619		1996	4173	6169	SO:0001630	splice_region_variant	84678	exon21			ACTCACCTGGCCT	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3610+1G>A	12.37:g.121878619C>T			47	0	0		55	0.05	3	NM_032590	49	0.00	0	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.272789|5.272789	0.95429|0.95429	.|.	.|.	ENSG00000089094|ENSG00000089094	ENST00000397480|ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	.|T;T;T	.|0.34667	.|1.35;1.35;1.35	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.53938	.|D	.|0.000051	T|T	0.62429|0.62429	0.2427|0.2427	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.996;0.998;0.998;0.998	T|T	0.58070|0.58070	-0.7701|-0.7701	5|9	.|.	.|.	.|.	-15.8974|-15.8974	20.3214|20.3214	0.98679|0.98679	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|644;1204;1135;647	.|B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.|.;KDM2B_HUMAN;.;.	T|S	1192|572;1135;1204;647;1207	.|ENSP00000437821:G572S;ENSP00000366269:G1135S;ENSP00000366271:G1204S	.|.	A|G	-|-	1|1	0|0	KDM2B|KDM2B	120363002|120363002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.613000|0.613000	0.37349|0.37349	7.625000|7.625000	0.83145|0.83145	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GCA|GGT			0.607	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000402132.2		NM_032590	Missense_Mutation
BRI3BP	140707	broad.mit.edu	37	12	125478382	125478384	+	In_Frame_Del	DEL	CTG	CTG	-	rs374894130		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr12:125478382_125478384delCTG	ENST00000341446.8	+	1	137_139	c.46_48delCTG	c.(46-48)ctgdel	p.L25del		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		ggccgggctcctgctgctgctgc	0.823																																					p.16_16del													.	BRI3BP	18		0			c.46_48del									73,1,19,363		34,0,1,4,0,0,1,8,2,178						-1.5	0.0		dbSNP_130	1	320,55,65,992		133,3,3,48,24,0,4,26,10,465	no	codingComplex	BRI3BP	NM_080626.5		167,3,4,52,24,0,5,34,12,643	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		30.7263,20.3947,28.2309				393,56,84,1355				SO:0001651	inframe_deletion	140707	exon1			GGGCTCCTGCTGC	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.46_48delCTG	12.37:g.125478391_125478393delCTG	ENSP00000340761:p.Leu25del		14	0	0		6	0.33	2	NM_080626	0		0		In_Frame_Del	DEL	ENST00000341446.8	37	CCDS9262.1																																																																																					0.823	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400200.2		NM_080626	
IPO5	3843	bcgsc.ca;mdanderson.org	37	13	98634777	98634777	+	Silent	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr13:98634777A>G	ENST00000490680.1	+	2	176	c.111A>G	c.(109-111)ccA>ccG	p.P37P	IPO5_ENST00000539640.1_Silent_p.P37P|IPO5_ENST00000261574.5_Silent_p.P55P			O00410	IPO5_HUMAN	importin 5	37	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGAATATCCCAGGCCAGTCAA	0.358																																					p.P55P													.	IPO5	90		0			c.A165G												98.0	94.0	95.0					13																	98634777		2203	4300	6503	SO:0001819	synonymous_variant	3843	exon5			TATCCCAGGCCAG	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.111A>G	13.37:g.98634777A>G			79	0	0		61	0.08	5	NM_002271	47	0.00	0	B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	A	7.756	0.704277	0.15172	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.59	-0.0745	0.13731	.	.	.	.	.	T	0.50394	0.1613	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	-9.9626	5.072	0.14611	0.5287:0.0:0.2766:0.1947	.	.	.	.	R	39	.	.	Q	+	2	0	IPO5	97432778	0.990000	0.36364	1.000000	0.80357	0.700000	0.40528	0.383000	0.20651	0.384000	0.24942	0.482000	0.46254	CAG			0.358	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000354655.1		NM_002271	
PNN	5411	mdanderson.org	37	14	39644508	39644508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr14:39644508C>T	ENST00000216832.4	+	1	92	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Nonsense_Mutation_p.Q9*|PNN_ENST00000553331.1_Nonsense_Mutation_p.Q9*	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	9	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAGAACTTTGCAGGAACAGCT	0.592																																					p.Q9X													.	.			0			c.C25T												56.0	48.0	51.0					14																	39644508		2203	4300	6503	SO:0001587	stop_gained	5411	exon1			ACTTTGCAGGAAC	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.25C>T	14.37:g.39644508C>T	ENSP00000216832:p.Gln9*		67	0	0		52	0.06	3	NM_002687	61	0.00	0	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Nonsense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	C	38	6.917353	0.97932	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.0999	20.6244	0.99512	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000216832:Q9X	Q	+	1	0	PNN	38714259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.607000	0.82883	2.879000	0.98667	0.650000	0.86243	CAG			0.592	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276776.2		NM_002687	
DCAF5	8816	mdanderson.org	37	14	69521081	69521081	+	Silent	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr14:69521081A>G	ENST00000341516.5	-	9	2469	c.2322T>C	c.(2320-2322)ccT>ccC	p.P774P	DCAF5_ENST00000554215.1_Silent_p.P692P|DCAF5_ENST00000556847.1_Silent_p.P692P|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Silent_p.P773P	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	774					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TGGTTTCAAAAGGGTGCTCTA	0.597																																					p.P774P													DCAF5,bladder,carcinoma,-1,1	DCAF5	-1	1	0			c.T2322C												60.0	66.0	64.0					14																	69521081		2202	4300	6502	SO:0001819	synonymous_variant	8816	exon9			TTCAAAAGGGTGC	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2322T>C	14.37:g.69521081A>G			45	0	0		47	0.06	3	NM_003861	76	0.00	0	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	37	CCDS32106.1																																																																																					0.597	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000414806.2		NM_003861	
ACOT2	10965	broad.mit.edu	37	14	74041690	74041690	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr14:74041690G>T	ENST00000238651.5	+	3	1107	c.925G>T	c.(925-927)Ggc>Tgc	p.G309C	ACOT2_ENST00000557857.1_3'UTR|ACOT2_ENST00000538782.1_Missense_Mutation_p.G112C	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	309					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTTCCTGAAGGGCATCACGGC	0.547																																					p.G309C													.	ACOT2	24		0			c.G925T												41.0	41.0	41.0					14																	74041690		2201	4286	6487	SO:0001583	missense	10965	exon3			CTGAAGGGCATCA	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.925G>T	14.37:g.74041690G>T	ENSP00000238651:p.Gly309Cys		350	0.0028571429	1		324	0.01	4	NM_006821	155	0.00	0	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596231	0.66332	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.47528	0.84;0.95	4.36	4.36	0.52297	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.314863	0.38111	N	0.001819	T	0.69369	0.3103	M	0.82630	2.6	0.43036	D	0.99461	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.996	T	0.75167	-0.3413	10	0.72032	D	0.01	-16.544	12.7494	0.57300	0.0:0.1654:0.8346:0.0	.	247;309;112	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	C	112;309	ENSP00000440961:G112C;ENSP00000238651:G309C	ENSP00000238651:G309C	G	+	1	0	ACOT2	73111443	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.128000	0.15810	1.968000	0.57251	0.511000	0.50034	GGC			0.547	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414435.1		NM_006821	
FAN1	22909	mdanderson.org	37	15	31217994	31217994	+	Silent	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:31217994G>T	ENST00000362065.4	+	10	2631	c.2340G>T	c.(2338-2340)gtG>gtT	p.V780V	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	780					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGTTTCAGGTGACCATCACAG	0.557								Direct reversal of damage																													p.V780V													.	.			0			c.G2340T												249.0	252.0	251.0					15																	31217994		2202	4300	6502	SO:0001819	synonymous_variant	22909	exon10			TCAGGTGACCATC		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2340G>T	15.37:g.31217994G>T			35	0	0		38	0.08	3	NM_014967	21	0.00	0	A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	CCDS32186.1																																																																																					0.557	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430740.1		NM_014967	
EIF2AK4	440275	mdanderson.org	37	15	40268993	40268993	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:40268993G>T	ENST00000263791.5	+	12	2240	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D733Y	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	733	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTCCAGCGATGACGAGGACGA	0.697																																					p.D733Y													.	.			0			c.G2197T												47.0	51.0	50.0					15																	40268993		1777	3876	5653	SO:0001583	missense	440275	exon12			AGCGATGACGAGG	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2197G>T	15.37:g.40268993G>T	ENSP00000263791:p.Asp733Tyr		30	0	0		35	0.09	3	NM_001013703	21	0.00	0	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285029	0.80803	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.72835	-0.69;-0.64	5.34	5.34	0.76211	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.276882	0.40554	N	0.001062	T	0.75436	0.3849	L	0.43646	1.37	0.80722	D	1	D	0.54397	0.966	P	0.53224	0.721	T	0.77797	-0.2453	10	0.72032	D	0.01	-8.3704	19.4115	0.94675	0.0:0.0:1.0:0.0	.	733	Q9P2K8	E2AK4_HUMAN	Y	733	ENSP00000263791:D733Y;ENSP00000372174:D733Y	ENSP00000263791:D733Y	D	+	1	0	EIF2AK4	38056285	1.000000	0.71417	0.999000	0.59377	0.114000	0.19823	9.469000	0.97679	2.651000	0.90000	0.585000	0.79938	GAC			0.697	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418395.1			
C15orf61	145853	mdanderson.org	37	15	67813654	67813654	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:67813654G>T	ENST00000342683.4	+	1	249	c.68G>T	c.(67-69)cGc>cTc	p.R23L	IQCH-AS1_ENST00000559298.1_lincRNA|C15orf61_ENST00000557807.1_5'Flank	NM_001143936.1	NP_001137408.1	A6NNL5	CO061_HUMAN	chromosome 15 open reading frame 61	23						extracellular region (GO:0005576)											TGGGCCTCGCGCGCCGCCGCC	0.761																																					p.R23L													.	.			0			c.G68T												2.0	4.0	3.0					15																	67813654		535	1305	1840	SO:0001583	missense	145853	exon1			CCTCGCGCGCCGC		CCDS45289.1	15q23	2012-09-27			ENSG00000189227	ENSG00000189227			34453	protein-coding gene	gene with protein product							Standard	NM_001143936		Approved	LOC145853	uc002aqs.3	A6NNL5		ENST00000342683.4:c.68G>T	15.37:g.67813654G>T	ENSP00000342254:p.Arg23Leu		8	0	0		13	0.15	2	NM_001143936	3	0.00	0	B4DFB2	Missense_Mutation	SNP	ENST00000342683.4	37	CCDS45289.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878493	0.17395	.	.	ENSG00000189227	ENST00000342683	.	.	.	3.09	2.05	0.26809	.	0.883626	0.09606	N	0.779657	T	0.25975	0.0633	N	0.14661	0.345	0.29156	N	0.878063	B	0.19200	0.034	B	0.17433	0.018	T	0.13980	-1.0489	9	0.26408	T	0.33	0.0034	10.7332	0.46109	0.0:0.2803:0.7197:0.0	.	23	A6NNL5	CO061_HUMAN	L	23	.	ENSP00000342254:R23L	R	+	2	0	C15orf61	65600708	0.873000	0.30073	1.000000	0.80357	0.517000	0.34286	0.744000	0.26245	1.745000	0.51790	0.467000	0.42956	CGC			0.761	C15orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417492.1		NM_001143936	
CSK	1445	mdanderson.org	37	15	75091663	75091663	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:75091663C>T	ENST00000220003.9	+	5	1022	c.293C>T	c.(292-294)cCg>cTg	p.P98L	CSK_ENST00000309470.9_Missense_Mutation_p.P98L|CSK_ENST00000439220.2_Missense_Mutation_p.P98L|CSK_ENST00000567571.1_Missense_Mutation_p.P98L	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	98	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						CTTCTGTACCCGCCGGAGACA	0.637																																					p.P98L													.	.			0			c.C293T												53.0	50.0	51.0					15																	75091663		2197	4295	6492	SO:0001583	missense	1445	exon5			TGTACCCGCCGGA		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.293C>T	15.37:g.75091663C>T	ENSP00000220003:p.Pro98Leu		46	0	0		42	0.07	3	NM_004383	132	0.00	0	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159223	0.94686	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	D;D;D	0.88201	-2.35;-2.35;-2.35	4.63	4.63	0.57726	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.92919	0.7747	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90516	0.4485	10	0.17832	T	0.49	-16.0705	17.2555	0.87055	0.0:1.0:0.0:0.0	.	98	P41240	CSK_HUMAN	L	98	ENSP00000220003:P98L;ENSP00000414764:P98L;ENSP00000438808:P98L	ENSP00000220003:P98L	P	+	2	0	CSK	72878716	1.000000	0.71417	0.947000	0.38551	0.930000	0.56654	7.198000	0.77823	2.410000	0.81850	0.491000	0.48974	CCG			0.637	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286398.2		NM_004383	
POLG	5428	mdanderson.org	37	15	89876861	89876861	+	Missense_Mutation	SNP	C	C	T	rs74382477		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:89876861C>T	ENST00000268124.5	-	2	458	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	POLG_ENST00000442287.2_Missense_Mutation_p.R42Q|RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	42					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ctgctgctgccgccgccgctg	0.736								DNA polymerases (catalytic subunits)																													p.R42Q	Colon(73;648 1203 11348 18386 27782)												.	.			0			c.G125A																																									SO:0001583	missense	5428	exon2			TGCTGCCGCCGCC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.125G>A	15.37:g.89876861C>T	ENSP00000268124:p.Arg42Gln		17	0	0		19	0.26	5	NM_001126131	13	0.00	0	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137797	0.09032	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96200	-3.94;-3.94	2.53	-0.795	0.10915	.	0.227039	0.13631	U	0.373696	D	0.84511	0.5488	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72805	-0.4182	10	0.10636	T	0.68	.	5.1171	0.14840	0.0:0.2444:0.3969:0.3588	.	42	P54098	DPOG1_HUMAN	Q	42	ENSP00000268124:R42Q;ENSP00000399851:R42Q	ENSP00000268124:R42Q	R	-	2	0	POLG	87677865	0.017000	0.18338	0.003000	0.11579	0.012000	0.07955	-0.201000	0.09464	-0.338000	0.08413	-1.937000	0.00501	CGG			0.736	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000312854.2		NM_002693	
ADAMTS17	170691	broad.mit.edu;mdanderson.org	37	15	100882053	100882053	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr15:100882053G>C	ENST00000268070.4	-	1	157	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V	SPATA41_ENST00000560282.1_lincRNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	18						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCCCAAACCAGCAGCAGCAGC	0.726																																					p.L18V													.	ADAMTS17	127		0			c.C52G												22.0	22.0	22.0					15																	100882053		2101	4143	6244	SO:0001583	missense	170691	exon1			AAACCAGCAGCAG	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.52C>G	15.37:g.100882053G>C	ENSP00000268070:p.Leu18Val		47	0	0		48	0.06	3	NM_139057	5	0.00	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847327	0.32606	.	.	ENSG00000140470	ENST00000268070	T	0.64618	-0.11	4.2	3.28	0.37604	.	0.000000	0.37857	N	0.001910	T	0.32941	0.0846	N	0.08118	0	0.24060	N	0.996015	P	0.36683	0.565	B	0.29176	0.099	T	0.15492	-1.0435	10	0.17369	T	0.5	.	9.0212	0.36202	0.1064:0.0:0.8936:0.0	.	18	Q8TE56	ATS17_HUMAN	V	18	ENSP00000268070:L18V	ENSP00000268070:L18V	L	-	1	2	ADAMTS17	98699576	0.983000	0.35010	0.999000	0.59377	0.317000	0.28152	1.744000	0.38268	0.750000	0.32877	-0.152000	0.13540	CTG			0.726	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057	
TMEM8A	58986	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	422631	422631	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr16:422631C>T	ENST00000431232.2	-	12	2159	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	MRPL28_ENST00000429738.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.V474M|MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000389675.2_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	667					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCATGATCACGAAGGCAAAG	0.622																																					p.V667M													.	TMEM8A	49		0			c.G1999A												102.0	97.0	98.0					16																	422631		2202	4300	6502	SO:0001583	missense	58986	exon12			TGATCACGAAGGC	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1999G>A	16.37:g.422631C>T	ENSP00000401338:p.Val667Met		37	0	0		20	0.20	4	NM_021259	70	0.39	27	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243694	0.39697	.	.	ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000448854	T;T;T	0.45668	0.89;0.89;0.89	3.97	1.89	0.25635	.	0.264569	0.26052	N	0.026630	T	0.36166	0.0957	M	0.74881	2.28	0.09310	N	0.999998	P	0.49696	0.927	B	0.39617	0.305	T	0.32052	-0.9921	10	0.45353	T	0.12	-17.2597	5.8531	0.18704	0.0:0.5074:0.3095:0.1831	.	667	Q9HCN3	TMM8A_HUMAN	M	667;474;215	ENSP00000401338:V667M;ENSP00000250930:V474M;ENSP00000401931:V215M	ENSP00000250930:V474M	V	-	1	0	TMEM8A	362632	0.000000	0.05858	0.499000	0.27577	0.989000	0.77384	-0.953000	0.03877	0.862000	0.35528	0.455000	0.32223	GTG			0.622	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000109257.2		NM_021259	
THAP11	57215	mdanderson.org	37	16	67876485	67876485	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr16:67876485G>T	ENST00000303596.1	+	1	273	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTGCGTGCCAGGCTGCTACAA	0.687																																					p.G10C													.	.			0			c.G28T												29.0	17.0	22.0					16																	67876485		2031	3902	5933	SO:0001583	missense	57215	exon1			GTGCCAGGCTGCT	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.28G>T	16.37:g.67876485G>T	ENSP00000304689:p.Gly10Cys		43	0	0		44	0.07	3	NM_020457	25	0.00	0	A4UCT5|A8K002|O94795	Missense_Mutation	SNP	ENST00000303596.1	37	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994984	0.54041	.	.	ENSG00000168286	ENST00000303596	D	0.97066	-4.23	5.19	5.19	0.71726	Zinc finger, C2CH-type (3);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99636	1.0987	10	0.87932	D	0	-14.0507	18.6587	0.91463	0.0:0.0:1.0:0.0	.	10	Q96EK4	THA11_HUMAN	C	10	ENSP00000304689:G10C	ENSP00000304689:G10C	G	+	1	0	THAP11	66433986	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	8.824000	0.92023	2.573000	0.86826	0.561000	0.74099	GGC			0.687	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268879.1		NM_020457	
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3937397	3937397	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:3937397G>T	ENST00000381638.2	-	40	6620	c.6496C>A	c.(6496-6498)Ctg>Atg	p.L2166M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2166							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCAGCAAACAGGTTGTGTTTG	0.542																																					p.L2166M													.	.			0			c.C6496A												168.0	158.0	161.0					17																	3937397		2203	4300	6503	SO:0001583	missense	23140	exon40			CAAACAGGTTGTG	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6496C>A	17.37:g.3937397G>T	ENSP00000371051:p.Leu2166Met		124	0	0		150	0.10	15	NM_015113	24	0.13	3	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186824	0.57909	.	.	ENSG00000074755	ENST00000381638	T	0.25085	1.82	5.5	0.145	0.14829	.	0.179591	0.38005	N	0.001850	T	0.22205	0.0535	N	0.24115	0.695	0.32681	N	0.515436	P;P	0.50617	0.937;0.895	P;P	0.53809	0.735;0.548	T	0.27088	-1.0084	10	0.66056	D	0.02	-9.3605	5.8696	0.18797	0.4389:0.0:0.4386:0.1224	.	2166;2166	O43149-2;O43149	.;ZZEF1_HUMAN	M	2166	ENSP00000371051:L2166M	ENSP00000371051:L2166M	L	-	1	2	ZZEF1	3884146	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	0.742000	0.26216	-0.063000	0.13065	-0.794000	0.03295	CTG			0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113	
DHRS7C	201140	broad.mit.edu;mdanderson.org	37	17	9674864	9674864	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:9674864A>G	ENST00000330255.5	-	6	892	c.880T>C	c.(880-882)Ttt>Ctt	p.F294L	DHRS7C_ENST00000571134.1_Missense_Mutation_p.F293L	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	294					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACGGCGAAAAAGAACTCCGGG	0.592																																					p.F294L													.	DHRS7C	34		0			c.T880C												49.0	56.0	53.0					17																	9674864		2029	4169	6198	SO:0001583	missense	201140	exon6			CGAAAAAGAACTC		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.880T>C	17.37:g.9674864A>G	ENSP00000327975:p.Phe294Leu		54	0	0		80	0.05	4	NM_001220493	1	0.00	0	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603295	0.46423	.	.	ENSG00000184544	ENST00000330255	D	0.85556	-2.0	5.5	5.5	0.81552	.	0.049428	0.85682	D	0.000000	D	0.82444	0.5038	L	0.52126	1.63	0.45762	D	0.998657	B;B	0.26809	0.141;0.16	B;B	0.27380	0.046;0.079	T	0.81102	-0.1085	10	0.62326	D	0.03	.	14.7364	0.69419	1.0:0.0:0.0:0.0	.	294;290	A6NNS2;B9EJH3	DRS7C_HUMAN;.	L	294	ENSP00000327975:F294L	ENSP00000327975:F294L	F	-	1	0	DHRS7C	9615589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.454000	0.60068	2.302000	0.77476	0.533000	0.62120	TTT			0.592	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000439863.1		XM_113912	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		211	0.0379146919	8		203	0.04	9	NM_145301	31	0.61	19	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301	
NOS2P2	201288	bcgsc.ca	37	17	18404316	18404316	+	IGR	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:18404316G>A								LGALS9C (6057 upstream) : CTD-2303H24.2 (10218 downstream)																							ACACGAGGATGGGAGGGGTCC	0.662																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	201288	.			GAGGATGGGAGGG																													17.37:g.18404316G>A			62	0	0		68	0.26	18	.	0		0		RNA	SNP		37																																																																																					0	0.662										
ARMC7	79637	mdanderson.org	37	17	73106427	73106427	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:73106427G>T	ENST00000245543.1	+	1	346	c.44G>T	c.(43-45)gGa>gTa	p.G15V	ARMC7_ENST00000582136.1_Missense_Mutation_p.G15V|ARMC7_ENST00000581078.1_Missense_Mutation_p.G15V|ARMC7_ENST00000584947.1_Missense_Mutation_p.G15V	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	15						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GGGCGGCTGGGATACCTGCAG	0.701																																					p.G15V													.	.			0			c.G44T												30.0	34.0	32.0					17																	73106427		2203	4300	6503	SO:0001583	missense	79637	exon1			GGCTGGGATACCT	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.44G>T	17.37:g.73106427G>T	ENSP00000245543:p.Gly15Val		66	0	0		65	0.06	4	NM_024585	9	0.00	0	B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815119	0.50527	.	.	ENSG00000125449	ENST00000245543	T	0.62788	0.0	5.85	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.058089	0.64402	D	0.000002	T	0.53899	0.1825	M	0.62723	1.935	0.58432	D	0.999999	P;B	0.34724	0.465;0.259	B;B	0.36766	0.232;0.021	T	0.58629	-0.7603	10	0.62326	D	0.03	.	2.6239	0.04924	0.2561:0.3034:0.4405:0.0	.	15;15	B4DVA4;Q9H6L4	.;ARMC7_HUMAN	V	15	ENSP00000245543:G15V	ENSP00000245543:G15V	G	+	2	0	ARMC7	70618022	1.000000	0.71417	0.966000	0.40874	0.882000	0.50991	4.660000	0.61511	1.441000	0.47550	0.655000	0.94253	GGA			0.701	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445846.1		NM_024585	
TBCD	6904	mdanderson.org	37	17	80887305	80887305	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr17:80887305G>T	ENST00000355528.4	+	32	3050	c.2920G>T	c.(2920-2922)Ggg>Tgg	p.G974W	TBCD_ENST00000539345.2_Missense_Mutation_p.G974W	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	974					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCAGCTCCTTGGGCTGCCCAC	0.667																																					p.G974W													.	.			0			c.G2920T												42.0	50.0	48.0					17																	80887305		2168	4257	6425	SO:0001583	missense	6904	exon32			CTCCTTGGGCTGC	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2920G>T	17.37:g.80887305G>T	ENSP00000347719:p.Gly974Trp		55	0	0		47	0.06	3	NM_005993	179	0.00	0	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543793	0.45280	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.32753	1.44	5.0	4.02	0.46733	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.292074	0.32273	N	0.006339	T	0.53867	0.1823	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.992;0.997;0.995	T	0.55386	-0.8149	9	.	.	.	.	13.1496	0.59482	0.0:0.162:0.838:0.0	.	725;974;974	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	W	974;725	ENSP00000347719:G974W	.	G	+	1	0	TBCD	78480594	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.504000	0.53347	1.077000	0.40990	-0.305000	0.09177	GGG			0.667	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439415.1		NM_005993	
Unknown	0	bcgsc.ca	37	18	1927980	1927980	+	IGR	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr18:1927980A>G								CTD-2015H3.1 (145915 upstream) : RP11-161I6.2 (106699 downstream)																							TCACATTAAAATGAACATATG	0.313																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			ATTAAAATGAACA																													18.37:g.1927980A>G			22	0	0		13	0.23	3	.	0		0		RNA	SNP		37																																																																																					0	0.313										
MEX3C	51320	mdanderson.org	37	18	48703101	48703101	+	5'Flank	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr18:48703101G>T	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CTTCCTCTGCGCTGAGTCTTC	0.493																																					p.R534S													.	.			0			c.C1600A												88.0	85.0	86.0					18																	48703101		2203	4300	6503	SO:0001631	upstream_gene_variant	51320	exon2			CTCTGCGCTGAGT	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48703101G>T	Exception_encountered		99	0	0		61	0.07	4	NM_016626	22	0.00	0	A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516261	0.44763	.	.	ENSG00000176624	ENST00000406189	T	0.37235	1.21	5.87	5.87	0.94306	.	0.567693	0.19847	N	0.104733	T	0.37320	0.0999	M	0.64997	1.995	0.36053	D	0.840901	P	0.44380	0.834	B	0.36418	0.224	T	0.47169	-0.9138	10	0.29301	T	0.29	-7.6253	18.9748	0.92731	0.0:0.0:1.0:0.0	.	534	Q5U5Q3	MEX3C_HUMAN	S	534	ENSP00000385610:R534S	ENSP00000385610:R534S	R	-	1	0	MEX3C	46957099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.838000	0.48199	2.779000	0.95612	0.655000	0.94253	CGC			0.493	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding		OTTHUMT00000449559.1		NM_016626	
C19orf26	255057	mdanderson.org	37	19	1236073	1236073	+	Silent	SNP	T	T	C			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:1236073T>C	ENST00000382477.2	-	2	283	c.9A>G	c.(7-9)acA>acG	p.T3T	C19orf26_ENST00000215376.6_Silent_p.T3T|AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000590083.1_Silent_p.T9T			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	3	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		tggtggcggctgtggccatgg	0.657										HNSCC(14;0.022)																											p.T9T													.	.			0			c.A27G												23.0	15.0	18.0					19																	1236073		2192	4291	6483	SO:0001819	synonymous_variant	255057	exon2			GGCGGCTGTGGCC	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.9A>G	19.37:g.1236073T>C			14	0	0		15	0.13	2	NM_152769	1	0.00	0	O43385	Silent	SNP	ENST00000382477.2	37																																																																																						0.657	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_152769	
PDE4A	5141	mdanderson.org	37	19	10563985	10563985	+	Intron	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:10563985C>T	ENST00000352831.6	+	7	893				PDE4A_ENST00000293683.5_Intron|PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000440014.2_Intron|PDE4A_ENST00000344979.3_Silent_p.L16L|PDE4A_ENST00000592685.1_Intron	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TAAGCCTTGGCTGGTGGGCTG	0.647																																					p.L16L													.	.			0			c.C46T												58.0	45.0	50.0					19																	10563985		2203	4300	6503	SO:0001627	intron_variant	5141	exon1			CCTTGGCTGGTGG		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.784-1520C>T	19.37:g.10563985C>T			31	0	0		48	0.06	3	NM_006202	0		0	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																					0.647	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000451244.1			
ISYNA1	51477	mdanderson.org	37	19	18548463	18548463	+	Silent	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:18548463G>T	ENST00000338128.8	-	3	445	c.228C>A	c.(226-228)gcC>gcA	p.A76A	ISYNA1_ENST00000457269.4_Intron|ISYNA1_ENST00000545187.1_Intron|ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000578963.1_5'Flank	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	76					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCAGCACCGCGGCGGTGAGTG	0.721																																					p.A76A													.	.			0			c.C228A												9.0	11.0	10.0					19																	18548463		2082	4124	6206	SO:0001819	synonymous_variant	51477	exon3			CACCGCGGCGGTG		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.228C>A	19.37:g.18548463G>T			14	0	0		15	0.13	2	NM_016368	72	0.00	0	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																					0.721	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444469.2		NM_016368	
CILP2	148113	broad.mit.edu	37	19	19656233	19656233	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:19656233G>A	ENST00000291495.5	+	8	2964	c.2879G>A	c.(2878-2880)gGc>gAc	p.G960D	CILP2_ENST00000586018.1_Missense_Mutation_p.G966D	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	960						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AACGCAGGGGGCAGCCACCCA	0.687																																					p.G960D													CILP2,NS,neuroblastoma,-1,1	CILP2	84	1	0			c.G2879A												16.0	18.0	17.0					19																	19656233		2202	4294	6496	SO:0001583	missense	148113	exon8			CAGGGGGCAGCCA	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2879G>A	19.37:g.19656233G>A	ENSP00000291495:p.Gly960Asp		48	0	0		57	0.05	3	NM_153221	8	0.00	0	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328615	0.60743	.	.	ENSG00000160161	ENST00000291495	T	0.09350	2.99	5.79	5.79	0.91817	.	0.052559	0.85682	D	0.000000	T	0.33614	0.0869	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00907	-1.1519	10	0.87932	D	0	-39.6612	17.571	0.87934	0.0:0.0:1.0:0.0	.	960;960	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	D	960	ENSP00000291495:G960D	ENSP00000291495:G960D	G	+	2	0	CILP2	19517233	1.000000	0.71417	0.995000	0.50966	0.020000	0.10135	6.486000	0.73629	2.757000	0.94681	0.555000	0.69702	GGC			0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000459738.3		NM_153221	
HPN	3249	mdanderson.org	37	19	35551260	35551260	+	Missense_Mutation	SNP	G	G	A	rs145117053		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:35551260G>A	ENST00000262626.2	+	8	1289	c.464G>A	c.(463-465)cGc>cAc	p.R155H	HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R155H	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	155					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GACTGTGGCCGCAGGAAGCTG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		16029	0.0		0.001	False		,,,				2504	0.0				p.R155H													.	.			0			c.G464A							G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	32.0	36.0	35.0		464,464	2.5	0.9	19	dbSNP_134	35	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense	HPN	NM_002151.2,NM_182983.2	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	155/418,155/418	35551260	1,13001	2203	4298	6501	SO:0001583	missense	3249	exon8			GTGGCCGCAGGAA		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.464G>A	19.37:g.35551260G>A	ENSP00000262626:p.Arg155His		38	0	0		32	0.09	3	NM_182983	2	0.00	0	B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	CCDS32993.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.30	1.897299	0.33535	0.0	1.16E-4	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	T;T	0.60797	0.16;0.16	4.68	2.54	0.30619	Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);Hepsin, SRCR (1);	0.186005	0.44688	N	0.000431	T	0.37839	0.1018	N	0.24115	0.695	0.80722	D	1	B;B;B	0.16396	0.017;0.016;0.009	B;B;B	0.11329	0.005;0.006;0.006	T	0.08889	-1.0700	10	0.22109	T	0.4	.	8.4075	0.32622	0.1932:0.0:0.8068:0.0	.	127;155;155	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	H	155;155;127	ENSP00000262626:R155H;ENSP00000376060:R155H	ENSP00000262626:R155H	R	+	2	0	HPN	40243100	1.000000	0.71417	0.946000	0.38457	0.962000	0.63368	2.993000	0.49425	0.577000	0.29470	0.555000	0.69702	CGC	0		0.682	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461573.1		NM_002151	
KMT2B	9757	broad.mit.edu	37	19	36223857	36223857	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:36223857T>C	ENST00000222270.7	+	28	6407	c.6407T>C	c.(6406-6408)cTc>cCc	p.L2136P	KMT2B_ENST00000420124.1_Missense_Mutation_p.L2136P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2136					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGGAGTCACTCCCCCCGGCG	0.662																																					p.L2136P													.	MLL4	229		0			c.T6407C												10.0	12.0	11.0					19																	36223857		1889	4108	5997	SO:0001583	missense	0	exon28			AGTCACTCCCCCC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6407T>C	19.37:g.36223857T>C	ENSP00000222270:p.Leu2136Pro		189	0.0052910053	1		216	0.03	6	NM_014727	17	0.00	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.463686	0.01062	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84873	-1.91;-1.91	3.99	2.97	0.34412	.	0.216149	0.23420	N	0.048375	T	0.72382	0.3453	N	0.25647	0.755	0.24027	N	0.996125	B	0.12013	0.005	B	0.10450	0.005	T	0.58532	-0.7620	10	0.34782	T	0.22	.	6.2402	0.20787	0.0:0.2:0.0:0.8	.	2136	Q9UMN6	MLL4_HUMAN	P	2136	ENSP00000222270:L2136P;ENSP00000398837:L2136P	ENSP00000222270:L2136P	L	+	2	0	AD000671.1	40915697	0.001000	0.12720	0.077000	0.20336	0.289000	0.27227	0.821000	0.27338	1.797000	0.52628	0.374000	0.22700	CTC			0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727	
CLASRP	11129	mdanderson.org	37	19	45572358	45572358	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr19:45572358G>T	ENST00000221455.3	+	17	1901	c.1803G>T	c.(1801-1803)atG>atT	p.M601I	CLASRP_ENST00000391953.4_Missense_Mutation_p.M539I|CLASRP_ENST00000544944.2_Missense_Mutation_p.M582I	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	601	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AAGAAAAGATGATCCAGCAGG	0.562																																					p.M601I													.	.			0			c.G1803T												119.0	133.0	128.0					19																	45572358		2203	4300	6503	SO:0001583	missense	11129	exon17			AAAGATGATCCAG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1803G>T	19.37:g.45572358G>T	ENSP00000221455:p.Met601Ile		61	0	0		71	0.06	4	NM_007056	134	0.00	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811874	0.32053	.	.	ENSG00000104859	ENST00000221455;ENST00000391953;ENST00000544944	T;T;T	0.39997	2.02;1.05;1.69	5.02	5.02	0.67125	.	0.000000	0.41605	U	0.000849	T	0.12561	0.0305	N	0.00436	-1.5	0.33143	D	0.54461	B;B;B	0.12630	0.006;0.003;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.15292	-1.0442	10	0.07482	T	0.82	-20.2447	13.7092	0.62659	0.0:0.0:1.0:0.0	.	539;582;601	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	I	601;539;582	ENSP00000221455:M601I;ENSP00000375815:M539I;ENSP00000438702:M582I	ENSP00000221455:M601I	M	+	3	0	CLASRP	50264198	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.424000	0.52764	2.626000	0.88956	0.555000	0.69702	ATG			0.562	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316749.1		NM_007056	
HEATR5B	54497	broad.mit.edu;mdanderson.org	37	2	37234397	37234397	+	Silent	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:37234397G>T	ENST00000233099.5	-	29	4668	c.4573C>A	c.(4573-4575)Cgg>Agg	p.R1525R	HEATR5B_ENST00000354531.2_Silent_p.R1525R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1525						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAGGAATTCCGATAGTGAAGT	0.378																																					p.R1525R													.	HEATR5B	185		0			c.C4573A												85.0	85.0	85.0					2																	37234397		2203	4300	6503	SO:0001819	synonymous_variant	54497	exon29			AATTCCGATAGTG	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4573C>A	2.37:g.37234397G>T			113	0	0		110	0.05	5	NM_019024	47	0.00	0	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																					0.378	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325492.1		NM_019024	
WBP1	23559	broad.mit.edu	37	2	74687702	74687702	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:74687702C>T	ENST00000233615.2	+	4	978	c.704C>T	c.(703-705)gCc>gTc	p.A235V	WBP1_ENST00000393972.3_Missense_Mutation_p.A269V|WBP1_ENST00000409737.1_Missense_Mutation_p.A232V|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	235							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						AGGGTTAGTGCCACCCTGCCA	0.597																																					p.A235V													.	WBP1	35		0			c.C704T												53.0	51.0	52.0					2																	74687702		2203	4300	6503	SO:0001583	missense	23559	exon4			TTAGTGCCACCCT	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.704C>T	2.37:g.74687702C>T	ENSP00000233615:p.Ala235Val		99	0	0		137	0.03	4	NM_012477	327	0.00	0	B2RE02|O95637	Missense_Mutation	SNP	ENST00000233615.2	37	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773307	0.31411	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737	.	.	.	4.54	-1.8	0.07907	.	.	.	.	.	T	0.30854	0.0778	L	0.57536	1.79	0.09310	N	0.999999	P;P	0.35192	0.489;0.489	B;B	0.35770	0.21;0.21	T	0.27400	-1.0075	8	0.13108	T	0.6	0.0	4.5182	0.11947	0.0:0.3507:0.2936:0.3557	.	232;235	B8ZZ95;Q96G27	.;WBP1_HUMAN	V	235;269;232	.	ENSP00000233615:A235V	A	+	2	0	WBP1	74541210	0.005000	0.15991	0.004000	0.12327	0.304000	0.27724	0.297000	0.19101	-0.506000	0.06558	-0.175000	0.13238	GCC			0.597	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252221.2		NM_012477	
Unknown	0	bcgsc.ca	37	2	106870091	106870091	+	IGR	SNP	G	G	A	rs145898109		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:106870091G>A								UXS1 (59296 upstream) : PLGLA (132677 downstream)																							CCAAAAGCCCGTTCCAGTTCG	0.458																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			AAGCCCGTTCCAG																													2.37:g.106870091G>A			34	0	0		15	0.60	9	.	0		0		RNA	SNP		37																																																																																					0	0.458										
SMPD4	55627	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	130910391	130910391	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:130910391G>A	ENST00000409031.1	-	20	3486	c.2338C>T	c.(2338-2340)Ctc>Ttc	p.L780F	SMPD4_ENST00000453750.1_Missense_Mutation_p.L529F|SMPD4_ENST00000443958.2_Missense_Mutation_p.L444F|SMPD4_ENST00000452225.2_Missense_Mutation_p.L521F|SMPD4_ENST00000351288.6_Missense_Mutation_p.L751F|SMPD4_ENST00000431183.2_Missense_Mutation_p.L678F|SMPD4_ENST00000426662.2_Missense_Mutation_p.L416F|SMPD4_ENST00000339679.7_Missense_Mutation_p.L638F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	741					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGTTCTGTGAGGTGGTAGCGA	0.667																																					p.L780F													.	.			0			c.C2338T												14.0	17.0	16.0					2																	130910391		2195	4279	6474	SO:0001583	missense	55627	exon20			CTGTGAGGTGGTA	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2338C>T	2.37:g.130910391G>A	ENSP00000386531:p.Leu780Phe		58	0	0		73	0.34	25	NM_017951	102	0.28	29	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	18.00	3.526022	0.64860	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.64997	1.995	0.52099	D	0.999943	D;P;P;P;D;B;D;D;D;D	0.89917	0.965;0.812;0.947;0.947;1.0;0.347;0.991;1.0;0.999;0.965	P;P;P;P;D;B;P;D;D;P	0.91635	0.819;0.45;0.579;0.579;0.998;0.085;0.823;0.999;0.994;0.689	T	0.75269	-0.3377	9	0.41790	T	0.15	.	13.7784	0.63069	0.0:0.0:1.0:0.0	.	416;521;678;638;529;712;741;780;787;312	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	F	751;780;678;529;444;638;521;416;290	.	ENSP00000339721:L638F	L	-	1	0	SMPD4	130626861	1.000000	0.71417	0.996000	0.52242	0.782000	0.44232	3.997000	0.57016	1.797000	0.52628	0.455000	0.32223	CTC			0.667	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3		NM_017751	
FN1	2335	broad.mit.edu	37	2	216288081	216288081	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr2:216288081G>T	ENST00000359671.1	-	9	1650	c.1385C>A	c.(1384-1386)cCc>cAc	p.P462H	FN1_ENST00000426059.1_Missense_Mutation_p.P462H|FN1_ENST00000357009.2_Missense_Mutation_p.P462H|FN1_ENST00000357867.4_Missense_Mutation_p.P462H|FN1_ENST00000443816.1_Missense_Mutation_p.P462H|FN1_ENST00000354785.4_Missense_Mutation_p.P462H|FN1_ENST00000421182.1_Missense_Mutation_p.P462H|FN1_ENST00000323926.6_Missense_Mutation_p.P462H|FN1_ENST00000432072.2_Missense_Mutation_p.P462H|FN1_ENST00000345488.5_Missense_Mutation_p.P462H|FN1_ENST00000356005.4_Missense_Mutation_p.P462H|FN1_ENST00000336916.4_Missense_Mutation_p.P462H|FN1_ENST00000446046.1_Missense_Mutation_p.P462H|FN1_ENST00000346544.3_Missense_Mutation_p.P462H			P02751	FINC_HUMAN	fibronectin 1	462	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACCAGCCATGGGGCAGAACCC	0.458																																					p.P462H													.	FN1	521		0			c.C1385A												105.0	95.0	98.0					2																	216288081		2203	4300	6503	SO:0001583	missense	2335	exon9			GCCATGGGGCAGA		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1385C>A	2.37:g.216288081G>T	ENSP00000352696:p.Pro462His		141	0.0070921986	1		163	0.04	6	NM_212476	638	0.00	0	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	G	29.9	5.042551	0.93685	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;1.97;2.15;0.68;2.19;1.84;2.21;1.84;2.13;1.89;1.37;0.69;1.28;1.36	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000004	T	0.78142	0.4237	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;P;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.997;0.899;0.999;0.998;1.0;0.997;0.999;0.999;0.941	T	0.82392	-0.0480	10	0.87932	D	0	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	462;462;462;462;462;462;462;462;462;462;462	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	H	462	ENSP00000394423:P462H;ENSP00000323534:P462H;ENSP00000338200:P462H;ENSP00000350534:P462H;ENSP00000346839:P462H;ENSP00000352696:P462H;ENSP00000265312:P462H;ENSP00000273049:P462H;ENSP00000349509:P462H;ENSP00000410422:P462H;ENSP00000415018:P462H;ENSP00000399538:P462H;ENSP00000348285:P462H;ENSP00000398907:P462H	ENSP00000265313:P462H	P	-	2	0	FN1	215996326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.777000	0.99008	2.802000	0.96397	0.655000	0.94253	CCC			0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding				NM_212476	
TBC1D20	128637	broad.mit.edu	37	20	425725	425725	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr20:425725G>C	ENST00000354200.4	-	3	453	c.306C>G	c.(304-306)gaC>gaG	p.D102E		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	102	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ACCGCCGGACGTCCAGCAACA	0.532																																					p.D102E													.	TBC1D20	34		0			c.C306G												94.0	71.0	79.0					20																	425725		2203	4300	6503	SO:0001583	missense	128637	exon3			CCGGACGTCCAGC	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.306C>G	20.37:g.425725G>C	ENSP00000346139:p.Asp102Glu		145	0	0		140	0.02	3	NM_144628	40	0.05	2	A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777148	0.49786	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.59224	0.28	5.53	-9.42	0.00610	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.78799	0.4340	H	0.94385	3.53	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.87265	0.2282	10	0.87932	D	0	-9.787	20.4856	0.99199	0.7814:0.0:0.2186:0.0	.	102	Q96BZ9	TBC20_HUMAN	E	102;127	ENSP00000346139:D102E	ENSP00000246077:D127E	D	-	3	2	TBC1D20	373725	0.003000	0.15002	0.298000	0.25002	0.285000	0.27093	-1.125000	0.03257	-1.942000	0.01040	-0.793000	0.03317	GAC			0.532	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251397.2	rescued with RNA-seq	NM_144628	
FRG1B	284802	broad.mit.edu;bcgsc.ca	37	20	29633902	29633902	+	Missense_Mutation	SNP	C	C	A	rs145072022		TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr20:29633902C>A	ENST00000278882.3	+	9	921	c.541C>A	c.(541-543)Cca>Aca	p.P181T	FRG1B_ENST00000358464.4_Missense_Mutation_p.P181T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	181								p.P181T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AACAAGAGAACCAAATTGAAA	0.274																																					.													.	FRG1B	181		2	Substitution - Missense(2)	endometrium(2)	.																																									SO:0001583	missense	0	.			AGAGAACCAAATT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.541C>A	20.37:g.29633902C>A	ENSP00000278882:p.Pro181Thr		189	0.0052910053	1		150	0.05	8	.	87	0.02	2	C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	c	4.973	0.180670	0.09443	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.42063	0.1186	.	.	.	0.20074	N	0.999938	.	.	.	.	.	.	T	0.34527	-0.9825	5	0.52906	T	0.07	.	9.2539	0.37571	0.0:1.0:0.0:0.0	.	.	.	.	T	181	.	ENSP00000278882:P181T	P	+	1	0	FRG1B	28247563	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.567000	0.53813	1.206000	0.43276	0.502000	0.49764	CCA			0.274	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000078494.2		NR_003579	
DIDO1	11083	mdanderson.org	37	20	61513425	61513425	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr20:61513425C>T	ENST00000266070.4	-	16	4208	c.3883G>A	c.(3883-3885)Gca>Aca	p.A1295T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1295T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1295					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGAGGCTGCCGCTGCTGTT	0.592																																					p.A1295T	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												.	.			0			c.G3883A												67.0	74.0	72.0					20																	61513425		2202	4294	6496	SO:0001583	missense	11083	exon16			AGGCTGCCGCTGC	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3883G>A	20.37:g.61513425C>T	ENSP00000266070:p.Ala1295Thr		52	0	0		51	0.06	3	NM_033081	10	0.00	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289058	0.10513	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08102	3.13;3.13	5.01	-2.01	0.07410	.	2.227450	0.02711	N	0.112841	T	0.03959	0.0111	N	0.12471	0.22	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.32613	-0.9900	10	0.09338	T	0.73	-0.7034	2.6511	0.05000	0.1152:0.4591:0.2242:0.2015	.	1295	Q9BTC0	DIDO1_HUMAN	T	1295	ENSP00000266070:A1295T;ENSP00000378752:A1295T	ENSP00000266070:A1295T	A	-	1	0	DIDO1	60983870	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.241000	0.09681	0.563000	0.77884	GCA			0.592	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080091.2		NM_080796	
GMEB2	26205	mdanderson.org	37	20	62221508	62221508	+	Silent	SNP	G	G	C			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr20:62221508G>C	ENST00000266068.1	-	9	2005	c.1527C>G	c.(1525-1527)ccC>ccG	p.P509P	GMEB2_ENST00000370077.1_Silent_p.P509P|GMEB2_ENST00000370069.1_Silent_p.P458P			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	509					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CCTCAGGCCCGGGGGCAGCCC	0.697																																					p.P509P													.	.			0			c.C1527G												20.0	22.0	21.0					20																	62221508		2200	4290	6490	SO:0001819	synonymous_variant	26205	exon10			AGGCCCGGGGGCA	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1527C>G	20.37:g.62221508G>C			31	0	0		52	0.06	3	NM_012384	19	0.00	0	E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Silent	SNP	ENST00000266068.1	37	CCDS13528.1																																																																																					0.697	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080166.1		NM_012384	
PLXNB2	23654	mdanderson.org	37	22	50722032	50722032	+	Splice_Site	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr22:50722032G>A	ENST00000449103.1	-	15	2709	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	PLXNB2_ENST00000359337.4_Splice_Site_p.R857W|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	857	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCACTCACCGGGTGGACACG	0.662																																					p.R857W													.	.			0			c.C2569T												24.0	28.0	27.0					22																	50722032		1944	4124	6068	SO:0001630	splice_region_variant	23654	exon15			CTCACCGGGTGGA		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2570+1C>T	22.37:g.50722032G>A			51	0	0		38	0.08	3	NM_012401	258	0.00	0	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086841	0.55861	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.77098	-1.07;-1.07	4.26	3.18	0.36537	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000226	D	0.86564	0.5963	M	0.84433	2.695	0.43734	D	0.996227	D	0.89917	1.0	D	0.74348	0.983	D	0.87271	0.2286	10	0.87932	D	0	.	8.7158	0.34410	0.0:0.0:0.6568:0.3432	.	857	O15031	PLXB2_HUMAN	W	857	ENSP00000409171:R857W;ENSP00000352288:R857W	ENSP00000352288:R857W	R	-	1	2	PLXNB2	49064159	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	3.148000	0.50647	2.197000	0.70478	0.491000	0.48974	CGG			0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316874.3		NM_012401	Missense_Mutation
ATG7	10533	mdanderson.org	37	3	11600098	11600098	+	IGR	SNP	T	T	C			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr3:11600098T>C	ENST00000354449.3	+	0	4959				VGLL4_ENST00000424529.2_Missense_Mutation_p.R185G|VGLL4_ENST00000404339.1_Missense_Mutation_p.R274G|VGLL4_ENST00000413604.1_Missense_Mutation_p.R210G|VGLL4_ENST00000451674.2_Missense_Mutation_p.R189G|VGLL4_ENST00000273038.3_Missense_Mutation_p.R269G|VGLL4_ENST00000430365.2_Missense_Mutation_p.R275G	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGCTGGCCCCTGCGAGAGGCG	0.642																																					p.R275G													.	.			0			c.A823G												49.0	57.0	54.0					3																	11600098		2203	4300	6503	SO:0001628	intergenic_variant	9686	exon5			GGCCCCTGCGAGA	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600098T>C			16	0	0		18	0.11	2	NM_001128219	89	0.00	0	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747497	0.69533	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.46451	0.88;0.88;0.87	5.01	-3.31	0.04988	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.47716	1.5	0.40484	D	0.980472	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	D;D;D;D;D	0.79784	0.993;0.993;0.993;0.993;0.993	T	0.55692	-0.8101	10	0.62326	D	0.03	-31.4953	18.11	0.89532	0.0:0.0:0.6945:0.3055	.	275;189;185;274;269	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	G	269;210;189;185;275;274	ENSP00000273038:R269G;ENSP00000404251:R275G;ENSP00000384705:R274G	ENSP00000273038:R269G	R	-	1	2	VGLL4	11575098	0.945000	0.32115	0.818000	0.32626	0.899000	0.52679	-0.231000	0.09069	-0.873000	0.04032	0.460000	0.39030	AGG			0.642	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251951.3		NM_006395	
SCAP	22937	mdanderson.org	37	3	47462212	47462212	+	Silent	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr3:47462212G>T	ENST00000265565.5	-	12	1807	c.1395C>A	c.(1393-1395)gcC>gcA	p.A465A	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Silent_p.A210A|SCAP_ENST00000545718.1_Silent_p.A73A	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	465					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCACTGGCTTGGCTGAGGGCA	0.647											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A465A	Pancreas(149;978 1908 29304 37806 46700)												.	.			0			c.C1395A												49.0	50.0	50.0					3																	47462212		2203	4299	6502	SO:0001819	synonymous_variant	22937	exon12			TGGCTTGGCTGAG	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1395C>A	3.37:g.47462212G>T			29	0.0344827586	1	947	41	0.07	3	NM_012235	107	0.00	0	Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	CCDS2755.2																																																																																					0.647	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246872.2		NM_012235	
MUC4	4585	bcgsc.ca	37	3	195513145	195513145	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr3:195513145A>G	ENST00000463781.3	-	2	5765	c.5306T>C	c.(5305-5307)gTa>gCa	p.V1769A	MUC4_ENST00000475231.1_Missense_Mutation_p.V1769A|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTGTGGATACTGAGGAAGT	0.587																																					p.V1769A													.	MUC4	1505		0			c.T5306C												61.0	57.0	58.0					3																	195513145		692	1590	2282	SO:0001583	missense	4585	exon2			GTGGATACTGAGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5306T>C	3.37:g.195513145A>G	ENSP00000417498:p.Val1769Ala		646	0.0170278638	11		728	0.08	55	NM_018406	2	0.00	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.698	-0.271614	0.05716	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35048	1.33;1.35	.	.	.	.	.	.	.	.	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	0.999999	B	0.30068	0.267	B	0.32805	0.153	T	0.26292	-1.0107	7	.	.	.	.	4.5176	0.11943	0.9993:0.0:7.0E-4:0.0	.	1769	E7ESK3	.	A	1769	ENSP00000417498:V1769A;ENSP00000420243:V1769A	.	V	-	2	0	MUC4	196997540	0.000000	0.05858	0.028000	0.17463	0.028000	0.11728	-1.731000	0.01853	0.077000	0.16863	0.076000	0.15429	GTA			0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
SPON2	10417	mdanderson.org	37	4	1164277	1164277	+	Missense_Mutation	SNP	C	C	T	rs2279279	byFrequency	TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:1164277C>T	ENST00000290902.5	-	5	1056	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SPON2_ENST00000431380.1_Missense_Mutation_p.V242M|RP11-20I20.4_ENST00000609548.1_RNA	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	242			V -> L (in dbSNP:rs2279279). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGCAGCCGCACCAGTGTCACC	0.637																																					p.V242M													.	.			0			c.G724A												99.0	97.0	98.0					4																	1164277		2203	4300	6503	SO:0001583	missense	10417	exon7			GCCGCACCAGTGT	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.724G>A	4.37:g.1164277C>T	ENSP00000290902:p.Val242Met		64	0	0		61	0.03	2	NM_001199021	31	0.00	0	D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015175	0.35511	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.09630	2.96;2.96	4.74	3.83	0.44106	.	0.211682	0.42682	D	0.000679	T	0.10078	0.0247	M	0.65975	2.015	0.27797	P	0.9426045	P	0.35745	0.518	B	0.26614	0.071	T	0.07673	-1.0760	9	0.41790	T	0.15	.	7.1626	0.25672	0.1712:0.741:0.0:0.0879	.	242	Q9BUD6	SPON2_HUMAN	M	242	ENSP00000290902:V242M;ENSP00000394832:V242M	ENSP00000290902:V242M	V	-	1	0	SPON2	1154277	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	2.473000	0.45145	2.180000	0.69256	0.609000	0.83330	GTG			0.637	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000202080.2			
CSN2	1447	broad.mit.edu	37	4	70823294	70823294	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:70823294A>G	ENST00000353151.3	-	5	384	c.373T>C	c.(373-375)Ttt>Ctt	p.F125L		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GGGTCAAAAAAGGGTATCGTT	0.483																																					p.F125L													.	CSN2	30		0			c.T373C												106.0	110.0	109.0					4																	70823294		2203	4300	6503	SO:0001583	missense	1447	exon5			CAAAAAAGGGTAT	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.373T>C	4.37:g.70823294A>G	ENSP00000341030:p.Phe125Leu		153	0	0		111	0.04	4	NM_001891	0		0	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387336	0.25031	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.16	-6.45	0.01914	.	0.955111	0.08655	N	0.913374	T	0.14960	0.0361	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24693	-1.0153	9	0.19590	T	0.45	0.0147	1.6244	0.02720	0.1768:0.4088:0.1454:0.2689	.	125	P05814	CASB_HUMAN	L	125	.	ENSP00000341030:F125L	F	-	1	0	CSN2	70857883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.630000	0.02028	-1.213000	0.02617	-0.299000	0.09455	TTT			0.483	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251565.1			
HPSE	10855	mdanderson.org	37	4	84234379	84234379	+	Silent	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:84234379G>T	ENST00000405413.2	-	5	697	c.561C>A	c.(559-561)ggC>ggA	p.G187G	HPSE_ENST00000512196.1_Silent_p.G187G|HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Silent_p.G187G	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	187					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	ACGCATTTAGGCCAAAGATCA	0.413																																					p.G187G													.	.			0			c.C561A												111.0	100.0	104.0					4																	84234379		2203	4300	6503	SO:0001819	synonymous_variant	10855	exon4			ATTTAGGCCAAAG	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.561C>A	4.37:g.84234379G>T			151	0	0		92	0.05	5	NM_001098540	1	0.00	0	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Silent	SNP	ENST00000405413.2	37	CCDS3602.1																																																																																					0.413	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252812.2		NM_006665	
DSPP	1834	bcgsc.ca	37	4	88536686	88536686	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr4:88536686A>G	ENST00000282478.7	+	4	2905	c.2872A>G	c.(2872-2874)Aat>Gat	p.N958D	DSPP_ENST00000399271.1_Missense_Mutation_p.N958D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	958	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcaatagcagtga	0.488																																					p.N958D													.	DSPP	174		0			c.A2872G												78.0	91.0	87.0					4																	88536686		1639	2966	4605	SO:0001583	missense	1834	exon5			AGCAGCAATAGCA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2872A>G	4.37:g.88536686A>G	ENSP00000282478:p.Asn958Asp		112	0.0089285714	1		63	0.10	6	NM_014208	0		0	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	a	3.286	-0.145966	0.06627	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87029	-2.2;-2.2	1.8	-0.0442	0.13856	.	.	.	.	.	T	0.69477	0.3115	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54227	-0.8325	9	0.05525	T	0.97	.	6.5492	0.22423	0.1988:0.0:0.8012:0.0	.	958	Q9NZW4	DSPP_HUMAN	D	958	ENSP00000382213:N958D;ENSP00000282478:N958D	ENSP00000282478:N958D	N	+	1	0	DSPP	88755710	0.000000	0.05858	0.074000	0.20217	0.003000	0.03518	0.010000	0.13242	-0.059000	0.13154	-1.046000	0.02355	AAT			0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208	
SGTB	54557	mdanderson.org	37	5	64966159	64966159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr5:64966159G>A	ENST00000381007.4	-	11	1064	c.829C>T	c.(829-831)Cag>Tag	p.Q277*		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	277	Gln-rich.									large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTTTGTTGCTGTATCTGCTGA	0.448																																					p.Q277X													.	.			0			c.C829T												172.0	166.0	168.0					5																	64966159		2203	4300	6503	SO:0001587	stop_gained	54557	exon11			GTTGCTGTATCTG	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.829C>T	5.37:g.64966159G>A	ENSP00000370395:p.Gln277*		65	0	0		41	0.07	3	NM_019072	4	0.00	0		Nonsense_Mutation	SNP	ENST00000381007.4	37	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234996	0.97399	.	.	ENSG00000197860	ENST00000381007	.	.	.	5.65	4.78	0.61160	.	0.308779	0.36482	N	0.002576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.9048	14.832	0.70156	0.0684:0.0:0.9316:0.0	.	.	.	.	X	277	.	ENSP00000370395:Q277X	Q	-	1	0	SGTB	65001915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	1.630000	0.50440	0.655000	0.94253	CAG			0.448	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215057.2		NM_019072	
GCNT4	51301	mdanderson.org	37	5	74324717	74324717	+	Silent	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr5:74324717A>G	ENST00000322348.4	-	1	2007	c.1146T>C	c.(1144-1146)tgT>tgC	p.C382C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	382					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GAGATCCAGTACAACTGGGAT	0.428																																					p.C382C													.	.			0			c.T1146C												77.0	74.0	75.0					5																	74324717		2203	4300	6503	SO:0001819	synonymous_variant	51301	exon1			TCCAGTACAACTG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.1146T>C	5.37:g.74324717A>G			57	0	0		47	0.06	3	NM_016591	2	0.00	0		Silent	SNP	ENST00000322348.4	37	CCDS4026.1																																																																																					0.428	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254040.1		NM_016591	
HLA-G	3135	ucsc.edu	37	6	29797394	29797394	+	Silent	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr6:29797394G>A	ENST00000360323.6	+	4	843	c.819G>A	c.(817-819)gtG>gtA	p.V273V	HLA-G_ENST00000428701.1_Silent_p.V273V|HLA-G_ENST00000376828.2_Silent_p.V278V|HLA-G_ENST00000376818.3_Silent_p.V181V|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	273	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTGTGGTGGTGCCTTCTGGAG	0.627																																					p.V273V													.	HLA-G	90		0			c.G819A												63.0	58.0	60.0					6																	29797394		2203	4296	6499	SO:0001819	synonymous_variant	3135	exon5			GGTGGTGCCTTCT		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.819G>A	6.37:g.29797394G>A			111	0	0		106	0.01	1	NM_002127	181	0.36	66		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																					0.627	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076286.2		NM_002127	
SUPT3H	8464	broad.mit.edu	37	6	45073703	45073703	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr6:45073703C>T	ENST00000371459.1	-	3	307	c.142G>A	c.(142-144)Gca>Aca	p.A48T	SUPT3H_ENST00000306867.5_Missense_Mutation_p.A48T|SUPT3H_ENST00000371460.1_Missense_Mutation_p.A59T|SUPT3H_ENST00000371461.2_Missense_Mutation_p.A59T	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	130					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ACCAAAACTGCTGTTTCATGA	0.323																																					p.A59T													.	SUPT3H	75		0			c.G175A												125.0	121.0	122.0					6																	45073703		2203	4300	6503	SO:0001583	missense	8464	exon5			AAACTGCTGTTTC	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.142G>A	6.37:g.45073703C>T	ENSP00000360514:p.Ala48Thr		94	0	0		101	0.04	4	NM_181356	12	0.00	0	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980194	0.74474	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.40225	1.04;1.06;1.06;1.04	5.31	4.44	0.53790	Histone-fold (2);	0.057508	0.64402	N	0.000001	T	0.18299	0.0439	N	0.22421	0.69	0.35685	D	0.81437	P;P	0.51791	0.948;0.905	P;B	0.47827	0.558;0.378	T	0.02774	-1.1112	10	0.15952	T	0.53	.	11.8982	0.52667	0.0:0.9185:0.0:0.0815	.	59;130	O75486-3;O75486	.;SUPT3_HUMAN	T	59;48;48;59	ENSP00000360515:A59T;ENSP00000360514:A48T;ENSP00000306718:A48T;ENSP00000360516:A59T	ENSP00000306718:A48T	A	-	1	0	SUPT3H	45181681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.431000	0.52814	1.364000	0.46038	0.655000	0.94253	GCA			0.323	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106911.2		NM_181356	
SYNJ2	8871	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	158517208	158517208	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr6:158517208G>A	ENST00000355585.4	+	27	4378	c.4303G>A	c.(4303-4305)Gac>Aac	p.D1435N	SYNJ2_ENST00000367122.2_Missense_Mutation_p.D1390N|SYNJ2_ENST00000367112.1_Missense_Mutation_p.D520N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1435					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TAAGAGCTCAGACCCTTTGGA	0.532																																					p.D1435N													.	SYNJ2	111		0			c.G4303A												65.0	66.0	66.0					6																	158517208		2203	4300	6503	SO:0001583	missense	8871	exon27			AGCTCAGACCCTT	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4303G>A	6.37:g.158517208G>A	ENSP00000347792:p.Asp1435Asn		159	0.0062893082	1		181	0.09	17	NM_003898	29	0.07	2	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171016	0.38315	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.93189	-3.17;-3.18;0.78	5.79	4.02	0.46733	.	0.578459	0.16858	N	0.196625	T	0.74496	0.3724	L	0.27053	0.805	0.21184	N	0.999762	B;B	0.12630	0.006;0.002	B;B	0.12156	0.007;0.002	T	0.61173	-0.7116	10	0.16896	T	0.51	.	6.5883	0.22632	0.2559:0.0:0.7441:0.0	.	830;1435	B4DLC4;O15056	.;SYNJ2_HUMAN	N	1390;1435;520	ENSP00000356089:D1390N;ENSP00000347792:D1435N;ENSP00000356079:D520N	ENSP00000347792:D1435N	D	+	1	0	SYNJ2	158437196	0.034000	0.19679	0.057000	0.19452	0.760000	0.43138	1.357000	0.34090	0.398000	0.25338	0.528000	0.53228	GAC			0.532	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042858.2			
SDK1	221935	mdanderson.org	37	7	4188935	4188935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr7:4188935G>T	ENST00000404826.2	+	30	4604	c.4465G>T	c.(4465-4467)Gaa>Taa	p.E1489*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.E1489*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1489	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1489*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCCCAGGCAGAAGTGACCGC	0.672																																					p.E1489X													SDK1,NS,carcinoma,0,1	SDK1	0	1	1	Substitution - Nonsense(1)	lung(1)	c.G4465T												24.0	27.0	26.0					7																	4188935		2203	4300	6503	SO:0001587	stop_gained	221935	exon30			CAGGCAGAAGTGA	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4465G>T	7.37:g.4188935G>T	ENSP00000385899:p.Glu1489*		50	0	0		81	0.06	5	NM_152744	11	0.00	0	Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	45	11.643396	0.99586	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.06	4.17	0.49024	.	0.343507	0.26761	N	0.022621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	12.8714	0.57966	0.0789:0.0:0.9211:0.0	.	.	.	.	X	1489	.	ENSP00000374182:E1489X	E	+	1	0	SDK1	4155461	0.999000	0.42202	0.742000	0.31022	0.747000	0.42532	3.368000	0.52357	2.353000	0.79882	0.563000	0.77884	GAA			0.672	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323702.1		NM_152744	
TRGC1	6966	broad.mit.edu	37	7	38304986	38304986	+	RNA	SNP	C	C	T	rs17418300	byFrequency	TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr7:38304986C>T	ENST00000443402.2	-	0	293					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCTTGATCAACTCCGTTTTTA	0.363													c|||	5	0.000998403	0.003	0.0	5008	,	,		18100	0.001		0.0	False		,,,				2504	0.0				p.V37I													.	.			0			c.G109A												144.0	137.0	139.0					7																	38304986		1833	4104	5937			0	exon2			GATCAACTCCGTT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38304986C>T			100	0.02	2		136	0.04	5	NM_001003806	0		0		RNA	SNP	ENST00000443402.2	37																																																																																						0.363	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene		OTTHUMT00000338825.3		NG_001336	
TAF6	6878	mdanderson.org	37	7	99705016	99705016	+	Silent	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr7:99705016A>G	ENST00000344095.4	-	15	2412	c.1887T>C	c.(1885-1887)ccT>ccC	p.P629P	TAF6_ENST00000418432.2_Silent_p.P553P|TAF6_ENST00000472509.1_Silent_p.P686P|TAF6_ENST00000452041.1_Silent_p.P629P|TAF6_ENST00000453269.2_Silent_p.P629P|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Silent_p.P666P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	629					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCCGGGGGAGGAACTGGAG	0.647																																					p.P666P													.	.			0			c.T1998C												59.0	65.0	63.0					7																	99705016		2203	4300	6503	SO:0001819	synonymous_variant	6878	exon15			CGGGGGAGGAACT		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1887T>C	7.37:g.99705016A>G			42	0.0238095238	1		54	0.06	3	NM_001190415	269	0.00	1	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	CCDS5686.1																																																																																					0.647	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337024.2		NM_005641	
CSMD1	64478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	3216723	3216723	+	Silent	SNP	G	G	A			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr8:3216723G>A	ENST00000520002.1	-	22	3813	c.3258C>T	c.(3256-3258)tgC>tgT	p.C1086C	CSMD1_ENST00000400186.3_Silent_p.C1086C|CSMD1_ENST00000542608.1_Silent_p.C1085C|CSMD1_ENST00000539096.1_Silent_p.C1085C|CSMD1_ENST00000537824.1_Silent_p.C1085C|CSMD1_ENST00000602557.1_Silent_p.C1086C|CSMD1_ENST00000602723.1_Silent_p.C1086C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1086	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCACCCAGGCAGGTAAGCT	0.552																																					p.C1085C													.	.			0			c.C3255T												68.0	73.0	71.0					8																	3216723		2203	4300	6503	SO:0001819	synonymous_variant	64478	exon21			ACCCAGGCAGGTA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3258C>T	8.37:g.3216723G>A			94	0	0		102	0.29	30	NM_033225	1	0.00	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	g	10.55	1.382288	0.24944	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.75049	0.3797	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73780	-0.3875	4	.	.	.	.	19.067	0.93116	0.0:0.0:1.0:0.0	.	.	.	.	S	566	.	.	P	-	1	0	CSMD1	3204130	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.985000	0.49362	2.489000	0.83994	0.550000	0.68814	CCT			0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225	
CPSF1	29894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	145627045	145627045	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr8:145627045C>T	ENST00000349769.3	-	3	261	c.167G>A	c.(166-168)aGc>aAc	p.S56N	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	56					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCACCTGTGCTCCTGTCATT	0.647																																					p.S56N	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.G167A												44.0	50.0	48.0					8																	145627045		2198	4300	6498	SO:0001583	missense	29894	exon3			CCTGTGCTCCTGT	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.167G>A	8.37:g.145627045C>T	ENSP00000339353:p.Ser56Asn		103	0	0		177	0.23	40	NM_013291	92	0.22	20	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	5.673	0.308744	0.10733	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.45276	0.9	4.04	0.863	0.19062	.	0.567082	0.19794	N	0.105906	T	0.23727	0.0574	L	0.44542	1.39	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11397	-1.0589	10	0.11794	T	0.64	-14.8787	0.5735	0.00699	0.2004:0.3658:0.195:0.2388	.	56;56	B4DEF4;Q10570	.;CPSF1_HUMAN	N	56	ENSP00000339353:S56N	ENSP00000339353:S56N	S	-	2	0	CPSF1	145597853	0.000000	0.05858	0.785000	0.31869	0.456000	0.32438	-0.042000	0.12063	0.354000	0.24105	0.561000	0.74099	AGC			0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291	
PTPRD	5789	mdanderson.org	37	9	8376061	8376061	+	Silent	SNP	T	T	C			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr9:8376061T>C	ENST00000381196.4	-	36	5079	c.4536A>G	c.(4534-4536)agA>agG	p.R1512R	PTPRD_ENST00000355233.5_Silent_p.R1106R|PTPRD_ENST00000356435.5_Silent_p.R1512R|PTPRD_ENST00000397606.3_Silent_p.R1105R|PTPRD_ENST00000397611.3_Silent_p.R1102R|PTPRD_ENST00000537002.1_Silent_p.R1102R|PTPRD_ENST00000360074.4_Silent_p.R1499R|PTPRD_ENST00000486161.1_Silent_p.R1105R|PTPRD_ENST00000358503.5_Silent_p.R1490R|PTPRD_ENST00000397617.3_Silent_p.R1105R|PTPRD_ENST00000540109.1_Silent_p.R1512R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1512	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTGGAATTGTCTCACTTCTC	0.443										TSP Lung(15;0.13)																											p.R1512R													.	.			0			c.A4536G												110.0	98.0	102.0					9																	8376061		2203	4299	6502	SO:0001819	synonymous_variant	5789	exon39			GAATTGTCTCACT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4536A>G	9.37:g.8376061T>C			76	0	0		41	0.07	3	NM_002839	0		0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																					0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055395.3			
SPTAN1	6709	mdanderson.org	37	9	131343287	131343287	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chr9:131343287G>T	ENST00000372731.4	+	11	1520	c.1410G>T	c.(1408-1410)caG>caT	p.Q470H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q470H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q470H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	470					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGACCTGCAGCTCTTCTACC	0.607																																					p.Q470H	NSCLC(120;833 1744 2558 35612 37579)												.	.			0			c.G1410T												93.0	84.0	87.0					9																	131343287		2203	4300	6503	SO:0001583	missense	6709	exon11			CCTGCAGCTCTTC	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1410G>T	9.37:g.131343287G>T	ENSP00000361816:p.Gln470His		64	0	0		51	0.06	3	NM_003127	60	0.00	0	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488986	0.44249	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.42900	0.96;0.96;0.96	5.47	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.53729	1.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.996;1.0	D;D;D;D;D	0.97110	0.999;0.993;1.0;0.92;0.998	T	0.51849	-0.8653	10	0.32370	T	0.25	.	11.5199	0.50545	0.1475:0.0:0.8525:0.0	.	470;470;470;470;470	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	H	470	ENSP00000350882:Q470H;ENSP00000361816:Q470H;ENSP00000361824:Q470H	ENSP00000350882:Q470H	Q	+	3	2	SPTAN1	130383108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.416000	0.73332	1.316000	0.45131	0.455000	0.32223	CAG			0.607	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054472.1		NM_003127	
UPRT	139596	broad.mit.edu	37	X	74519638	74519638	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chrX:74519638A>G	ENST00000373383.4	+	5	798	c.631A>G	c.(631-633)Agt>Ggt	p.S211G	UPRT_ENST00000373379.1_Missense_Mutation_p.S211G|UPRT_ENST00000530743.1_Missense_Mutation_p.S75G	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	211					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CCTGATTCAGAGTGATGAGGA	0.403																																					p.S211G													.	UPRT	46		0			c.A631G												120.0	106.0	111.0					X																	74519638		2203	4300	6503	SO:0001583	missense	139596	exon5			ATTCAGAGTGATG	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.631A>G	X.37:g.74519638A>G	ENSP00000362481:p.Ser211Gly		74	0	0		85	0.04	3	NM_145052	9	0.00	0	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747737	0.89663	.	.	ENSG00000094841	ENST00000373383;ENST00000373379;ENST00000530743	D;D;D	0.91894	-2.93;-2.93;-2.93	5.69	5.69	0.88448	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95127	0.8421	M	0.80847	2.515	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.58454	0.839;0.839	D	0.95294	0.8397	10	0.59425	D	0.04	-26.7363	13.9801	0.64299	1.0:0.0:0.0:0.0	.	211;211	A8KAF9;Q96BW1	.;UPP_HUMAN	G	211;211;75	ENSP00000362481:S211G;ENSP00000362477:S211G;ENSP00000434037:S75G	ENSP00000362477:S211G	S	+	1	0	UPRT	74436363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.954000	0.93051	1.899000	0.54978	0.441000	0.28932	AGT			0.403	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000057278.1		NM_145052	
GYG2P1	352887	broad.mit.edu	37	Y	14499256	14499256	+	RNA	DEL	T	T	-			TCGA-2G-AAGV-01A-11D-A42Y-10	TCGA-2G-AAGV-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5576078-ba13-4487-8b25-2dfdb8370330	b92907a1-a37f-4fd8-990c-e8c356ea936f	g.chrY:14499256delT	ENST00000493160.1	-	0	802									glycogenin 2 pseudogene 1																		CCCCAttttctttttttttga	0.468																																					.													.	.			0			.																																											0	.			ATTTTCTTTTTTT			Yq11.21	2010-07-02	2010-03-19	2010-03-19	ENSG00000206159	ENSG00000206159			4701	pseudogene	pseudogene			"""glycogenin 2 pseudogene"""	GYG2P		10542153	Standard	NR_033667		Approved		uc022cji.1		OTTHUMG00000036382		Y.37:g.14499256delT			22	0	0		13	0.31	4	.	0		0		RNA	DEL	ENST00000493160.1	37																																																																																						0.468	GYG2P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000088556.1		NG_002811	
