#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_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
KAZN	23254	hgsc.bcm.edu	37	1	15392249	15392249	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:15392249G>T	ENST00000376030.2	+	8	1516	c.1222G>T	c.(1222-1224)Gac>Tac	p.D408Y	KAZN_ENST00000422387.2_Missense_Mutation_p.G408C|KAZN_ENST00000400797.3_Missense_Mutation_p.G314C|KAZN_ENST00000361144.5_Missense_Mutation_p.G402C|KAZN_ENST00000503743.1_Missense_Mutation_p.G408C|KAZN_ENST00000400798.2_Missense_Mutation_p.G314C	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	408					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCTCTTTGATGGTACCGCCCC	0.597																																					p.G408C													RP1-21O18_1,NS,carcinoma,-1,1	RP1-21O18_1	-1	1	0			c.G1222T												58.0	62.0	61.0					1																	15392249		2203	4300	6503	SO:0001630	splice_region_variant	23254	exon8			TTTGATGGTACCG	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1222+1G>T	1.37:g.15392249G>T			Somatic	75	0	0		WXS	Illumina HiSeq	.	97	0.04	4	NM_015209	24	0.00	0	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.631069|4.631069	0.87660|0.87660	.|.	.|.	ENSG00000189337|ENSG00000189337	ENST00000376030|ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T|.	0.21543|.	2.0|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.173148|.	0.49916|.	D|.	0.000124|.	T|T	0.65133|0.65133	0.2662|0.2662	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999975|0.999975	D|D;D	0.61697|0.89917	0.99|1.0;1.0	P|D;D	0.58577|0.91635	0.841|0.999;0.999	T|T	0.70096|0.70096	-0.4966|-0.4966	10|8	0.34782|0.72032	T|D	0.22|0.01	-19.7325|-19.7325	18.147|18.147	0.89661|0.89661	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	408|408;402	Q674X7|Q674X7-2;Q674X7-3	KAZRN_HUMAN|.;.	Y|C	408|408;408;402;314;314	ENSP00000365198:D408Y|.	ENSP00000365198:D408Y|ENSP00000354727:G402C	D|G	+|+	1|1	0|0	KAZN|KAZN	15264836|15264836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.105000|9.105000	0.94246|0.94246	2.516000|2.516000	0.84829|0.84829	0.313000|0.313000	0.20887|0.20887	GAC|GGT			0.597	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005690.2		NM_001017999	Missense_Mutation
MAP3K6	9064	mdanderson.org	37	1	27684931	27684931	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:27684931G>T	ENST00000493901.1	-	21	2994	c.2755C>A	c.(2755-2757)Cga>Aga	p.R919R	MAP3K6_ENST00000374040.3_Silent_p.R911R|MAP3K6_ENST00000357582.2_Silent_p.R919R	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	919					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGCATGTCGTGGGGAGCTG	0.672																																					p.R919R													.	.			0			c.C2755A												27.0	34.0	32.0					1																	27684931		2183	4278	6461	SO:0001819	synonymous_variant	9064	exon20			CATGTCGTGGGGA	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2755C>A	1.37:g.27684931G>T			Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_004672	18	0.00	0	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281503	0.01398	.	.	ENSG00000142733	ENST00000472410	.	.	.	4.56	1.56	0.23342	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	10.3068	0.43685	0.0:0.0:0.4767:0.5233	.	.	.	.	Q	642	.	.	H	-	3	2	MAP3K6	27557518	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.565000	0.23578	0.159000	0.19401	-0.181000	0.13052	CAC			0.672	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000013469.2		NM_004672	
SERINC2	347735	broad.mit.edu	37	1	31897662	31897662	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:31897662A>C	ENST00000373709.3	+	3	484	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	SERINC2_ENST00000536384.1_Missense_Mutation_p.T116P|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.T116P|SERINC2_ENST00000373710.1_Missense_Mutation_p.T121P	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	112					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTTCTTTTTCACCCTGCTCAT	0.657																																					p.T121P													.	SERINC2	44		0			c.A361C												18.0	19.0	19.0					1																	31897662		2203	4299	6502	SO:0001583	missense	347735	exon4			TTTTTCACCCTGC	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.334A>C	1.37:g.31897662A>C	ENSP00000362813:p.Thr112Pro		Somatic	112	0.1696428571	19		WXS	Illumina HiSeq	Phase_I	97	0.22	21	NM_001199038	18	0.06	1	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.027057	0.35797	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.3	1.86	0.25419	.	0.398700	0.29355	N	0.012382	T	0.11879	0.0289	L	0.43152	1.355	0.28690	N	0.90465	B;B;B;P	0.35328	0.33;0.33;0.33;0.495	B;B;B;B	0.41412	0.356;0.356;0.356;0.356	T	0.12192	-1.0557	10	0.41790	T	0.15	-30.1886	2.2137	0.03955	0.3941:0.0:0.1942:0.4117	.	116;121;116;112	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	P	121;116;112;116	ENSP00000362814:T121P;ENSP00000444307:T116P;ENSP00000362813:T112P;ENSP00000439048:T116P	ENSP00000362813:T112P	T	+	1	0	SERINC2	31670249	0.003000	0.15002	0.968000	0.41197	0.339000	0.28857	0.973000	0.29422	0.183000	0.20059	0.533000	0.62120	ACC			0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010680.1		NM_018565	
KCNA10	3744	broad.mit.edu	37	1	111060761	111060761	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:111060761C>T	ENST00000369771.2	-	1	1036	c.649G>A	c.(649-651)Gct>Act	p.A217T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	217					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	ACGGCCACAGCACGGGCAGCG	0.552																																					p.A217T													.	KCNA10	92		0			c.G649A												105.0	103.0	104.0					1																	111060761		2203	4300	6503	SO:0001583	missense	3744	exon1			CCACAGCACGGGC	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.649G>A	1.37:g.111060761C>T	ENSP00000358786:p.Ala217Thr		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	189	0.02	4	NM_005549	0		0		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	3.524	-0.097071	0.07010	.	.	ENSG00000143105	ENST00000369771	T	0.65178	-0.14	5.93	4.06	0.47325	.	0.434020	0.25922	N	0.027433	T	0.27832	0.0685	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19031	-1.0318	10	0.52906	T	0.07	.	14.812	0.70003	0.0:0.8712:0.0:0.1288	.	217	Q16322	KCA10_HUMAN	T	217	ENSP00000358786:A217T	ENSP00000358786:A217T	A	-	1	0	KCNA10	110862284	0.026000	0.19158	0.020000	0.16555	0.219000	0.24729	2.599000	0.46231	0.418000	0.25898	-1.945000	0.00491	GCT			0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000059081.1		NM_005549	
FMO5	2330	broad.mit.edu	37	1	146651215	146651215	+	RNA	SNP	G	G	C			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:146651215G>C	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							AAAGCAGTAGGCAAACACCAC	0.453																																					.													.	.			0			.																																											0	.			CAGTAGGCAAACA																													1.37:g.146651215G>C			Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	.	29	0.07	2		RNA	SNP	ENST00000607149.1	37																																																																																						0.453	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense		OTTHUMT00000471324.1			
FAM129A	116496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	184767257	184767257	+	Missense_Mutation	SNP	T	T	A	rs373027349		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr1:184767257T>A	ENST00000367511.3	-	13	1815	c.1622A>T	c.(1621-1623)tAt>tTt	p.Y541F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	541					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AATCTCCTCATAGACATTTTC	0.418																																					p.Y541F													.	.			0			c.A1622T												98.0	90.0	93.0					1																	184767257		2203	4300	6503	SO:0001583	missense	116496	exon13			TCCTCATAGACAT	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1622A>T	1.37:g.184767257T>A	ENSP00000356481:p.Tyr541Phe		Somatic	64	0	0		WXS	Illumina HiSeq	.	54	0.31	17	NM_052966	3	0.00	0	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331909	0.81801	.	.	ENSG00000135842	ENST00000367511	T	0.25912	1.77	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	L	0.52364	1.645	0.47123	D	0.999325	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.38845	-0.9642	10	0.62326	D	0.03	-3.9261	13.9641	0.64199	0.0:0.0:0.0:1.0	.	72;541	Q5TEY9;Q9BZQ8	.;NIBAN_HUMAN	F	541	ENSP00000356481:Y541F	ENSP00000356481:Y541F	Y	-	2	0	FAM129A	183033880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.613000	0.74192	2.034000	0.60081	0.533000	0.62120	TAT			0.418	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085786.1			
SKIDA1	387640	broad.mit.edu;bcgsc.ca	37	10	21805720	21805720	+	Silent	SNP	A	A	G			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:21805720A>G	ENST00000449193.2	-	4	3284	c.1032T>C	c.(1030-1032)caT>caC	p.H344H	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Silent_p.H265H	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	263	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtgatggtggtggt	0.716																																					p.H344H													.	.			0			c.T1032C												4.0	6.0	5.0					10																	21805720		1658	3602	5260	SO:0001819	synonymous_variant	387640	exon4			GTGGTGATGGTGG	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1032T>C	10.37:g.21805720A>G			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	26	0.15	4	NM_207371	2	0.00	0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371	
SKIDA1	387640	mdanderson.org	37	10	21806056	21806056	+	Silent	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:21806056G>A	ENST00000449193.2	-	4	2948	c.696C>T	c.(694-696)gcC>gcT	p.A232A	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Intron	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	232	Ala-rich.			Missing (in Ref. 2; BAD18601). {ECO:0000305}.		nucleus (GO:0005634)											cggcagcagcggcggcggcgg	0.766																																					p.A232A													.	.			0			c.C696T												1.0	1.0	1.0					10																	21806056		64	241	305	SO:0001819	synonymous_variant	387640	exon4			AGCAGCGGCGGCG	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.696C>T	10.37:g.21806056G>A			Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	13	0.15	2	NM_207371	0		0	B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	CCDS44363.1																																																																																					0.766	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286950.2		NM_207371	
GAD2	2572	mdanderson.org	37	10	26581439	26581439	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:26581439G>T	ENST00000376261.3	+	14	1935	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S	GAD2_ENST00000259271.3_Missense_Mutation_p.A478S	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	478					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTGGAGTTGGCAGAGTATTT	0.413																																					p.A478S													.	.			0			c.G1432T												134.0	126.0	129.0					10																	26581439		2203	4300	6503	SO:0001583	missense	2572	exon14			GAGTTGGCAGAGT	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1432G>T	10.37:g.26581439G>T	ENSP00000365437:p.Ala478Ser		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_000818	10	0.00	0	Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294556	0.40594	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.51325	0.71;0.71	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055044	0.85682	D	0.000000	T	0.43255	0.1239	L	0.38733	1.17	0.80722	D	1	B	0.16603	0.018	B	0.31812	0.136	T	0.21177	-1.0253	10	0.30854	T	0.27	-16.6767	14.7678	0.69654	0.0:0.0:0.8556:0.1444	.	478	Q05329	DCE2_HUMAN	S	478	ENSP00000365437:A478S;ENSP00000259271:A478S	ENSP00000259271:A478S	A	+	1	0	GAD2	26621445	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.822000	0.75277	2.793000	0.96121	0.655000	0.94253	GCA			0.413	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047255.1		NM_000818	
LRIT2	340745	mdanderson.org	37	10	85985212	85985212	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:85985212G>T	ENST00000372113.4	-	1	70	c.65C>A	c.(64-66)cCt>cAt	p.P22H	LRIT2_ENST00000538192.1_Missense_Mutation_p.P22H	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	22						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CAGACAGAAAGGCTGAGCTGC	0.458																																					p.P22H													.	.			0			c.C65A												74.0	71.0	72.0					10																	85985212		2203	4300	6503	SO:0001583	missense	340745	exon1			CAGAAAGGCTGAG		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.65C>A	10.37:g.85985212G>T	ENSP00000361185:p.Pro22His		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	54	0.06	3	NM_001017924	0		0	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005353	0.35415	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.61859	0.48;0.07	5.87	3.02	0.34903	.	0.616927	0.15085	N	0.281446	T	0.57666	0.2069	M	0.65975	2.015	0.09310	N	1	D;D	0.55172	0.97;0.97	P;P	0.49708	0.62;0.62	T	0.46803	-0.9165	10	0.15066	T	0.55	.	8.1948	0.31389	0.3077:0.0:0.6923:0.0	.	22;22	B7ZME6;A6NDA9	.;LRIT2_HUMAN	H	22	ENSP00000361185:P22H;ENSP00000438264:P22H	ENSP00000361185:P22H	P	-	2	0	LRIT2	85975192	0.801000	0.28930	0.001000	0.08648	0.293000	0.27360	2.599000	0.46231	0.827000	0.34685	0.655000	0.94253	CCT			0.458	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049110.4		XM_291697	
SLIT1	6585	mdanderson.org	37	10	98778349	98778349	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr10:98778349G>T	ENST00000266058.4	-	28	3208	c.2963C>A	c.(2962-2964)cCg>cAg	p.P988Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P988Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	988	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		TCACGTGAACGGGGCATCCTC	0.657																																					p.P988Q													.	.			0			c.C2963A												33.0	28.0	30.0					10																	98778349		2203	4297	6500	SO:0001583	missense	6585	exon28			GTGAACGGGGCAT	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.2963C>A	10.37:g.98778349G>T	ENSP00000266058:p.Pro988Gln		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_003061	0		0	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	1.831	-0.469914	0.04445	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.87334	-2.24;-2.24	5.82	3.92	0.45320	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.467998	0.24132	N	0.041250	T	0.69314	0.3097	N	0.01352	-0.895	0.37668	D	0.923023	B	0.02656	0.0	B	0.01281	0.0	T	0.62483	-0.6845	10	0.27785	T	0.31	.	16.199	0.82057	0.0:0.7378:0.2622:0.0	.	988	O75093	SLIT1_HUMAN	Q	988	ENSP00000266058:P988Q;ENSP00000360109:P988Q	ENSP00000266058:P988Q	P	-	2	0	SLIT1	98768339	0.002000	0.14202	0.162000	0.22713	0.002000	0.02628	1.697000	0.37784	0.764000	0.33197	-0.311000	0.09066	CCG			0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049636.1		NM_003061	
DUSP8	1850	mdanderson.org	37	11	1579110	1579110	+	Silent	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:1579110G>A	ENST00000397374.3	-	6	862	c.735C>T	c.(733-735)caC>caT	p.H245H	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Silent_p.H245H	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	245	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CAGCCAGACAGTGGACGATGA	0.617																																					p.H245H													.	.			0			c.C735T												138.0	125.0	130.0					11																	1579110		2202	4299	6501	SO:0001819	synonymous_variant	1850	exon6			CAGACAGTGGACG		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.735C>T	11.37:g.1579110G>A			Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_004420	37	0.00	0	Q86SS8	Silent	SNP	ENST00000397374.3	37	CCDS7724.1																																																																																					0.617	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257178.3		NM_004420	
GTF2H1	2965	mdanderson.org	37	11	18354649	18354649	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:18354649C>A	ENST00000265963.4	+	2	188	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.L10M|GTF2H1_ENST00000531757.1_3'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	10					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAAGTTTTGCTGATTGTAAA	0.398								Nucleotide excision repair (NER)																													p.L10M													.	.			0			c.C28A												87.0	83.0	85.0					11																	18354649		2199	4293	6492	SO:0001583	missense	2965	exon3			GTTTTGCTGATTG		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.28C>A	11.37:g.18354649C>A	ENSP00000265963:p.Leu10Met		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_001142307	10	0.00	0	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322503	0.60634	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.31247	1.5;1.5	5.58	0.593	0.17478	TFIIH p62 subunit, N-terminal (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	L	0.57536	1.79	0.80722	D	1	P	0.50617	0.937	D	0.64042	0.921	T	0.19844	-1.0293	10	0.48119	T	0.1	-7.7054	9.7208	0.40302	0.0:0.588:0.0:0.412	.	10	P32780	TF2H1_HUMAN	M	10	ENSP00000393638:L10M;ENSP00000265963:L10M	ENSP00000265963:L10M	L	+	1	2	GTF2H1	18311225	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.986000	0.29590	0.062000	0.16340	-0.251000	0.11542	CTG			0.398	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395627.2		NM_005316	
NAV2	89797	bcgsc.ca	37	11	20005718	20005718	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:20005718G>T	ENST00000396087.3	+	12	2861	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NAV2_ENST00000527559.2_Missense_Mutation_p.R850L|NAV2_ENST00000360655.4_Missense_Mutation_p.R834L|NAV2_ENST00000540292.1_Missense_Mutation_p.R852L|NAV2_ENST00000349880.4_Missense_Mutation_p.R898L|NAV2-AS3_ENST00000534036.1_RNA|NAV2_ENST00000396085.1_Missense_Mutation_p.R898L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	921					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGCCTGAACCGGCTCCCTGAT	0.547																																					p.R921L													NAV2,colon,carcinoma,+1,1	NAV2	255	1	0			c.G2762T												136.0	127.0	130.0					11																	20005718		2203	4300	6503	SO:0001583	missense	89797	exon12			TGAACCGGCTCCC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2762G>T	11.37:g.20005718G>T	ENSP00000379396:p.Arg921Leu		Somatic	58	0.0172413793	1		WXS	Illumina HiSeq	Phase_1	59	0.08	5	NM_001244963	1	0.00	0	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257473	0.95368	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.45668	0.94;0.98;0.98;0.98;0.89;0.89	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000029	T	0.59985	0.2234	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.75020	0.985;0.795	T	0.53187	-0.8474	9	.	.	.	.	18.8669	0.92296	0.0:0.0:1.0:0.0	.	898;834	Q8IVL1-3;Q8IVL1-4	.;.	L	834;898;898;921;850;852	ENSP00000353871:R834L;ENSP00000379394:R898L;ENSP00000309577:R898L;ENSP00000379396:R921L;ENSP00000435395:R850L;ENSP00000443489:R852L	.	R	+	2	0	NAV2	19962294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.575000	0.90766	2.824000	0.97209	0.655000	0.94253	CGG			0.547	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324112.1		NM_145117	
SLC1A2	6506	broad.mit.edu	37	11	35308373	35308373	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:35308373G>T	ENST00000278379.3	-	8	1499	c.1217C>A	c.(1216-1218)gCg>gAg	p.A406E	SLC1A2_ENST00000479543.1_5'Flank|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406E|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397E|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397E	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	406					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GGCGGCTACCGCTTCATAAAG	0.468																																					p.A406E	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												.	SLC1A2	54		0			c.C1217A												184.0	167.0	173.0					11																	35308373		2202	4298	6500	SO:0001583	missense	6506	exon8			GCTACCGCTTCAT	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1217C>A	11.37:g.35308373G>T	ENSP00000278379:p.Ala406Glu		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	124	0.02	3	NM_004171	2	0.00	0	B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539434	0.85917	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.62105	0.05;0.05;0.05	5.62	5.62	0.85841	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90725	0.4638	10	0.87932	D	0	-21.4502	20.024	0.97514	0.0:0.0:1.0:0.0	.	406;406	B4DQE9;P43004	.;EAA2_HUMAN	E	406;397;397	ENSP00000278379:A406E;ENSP00000379099:A397E;ENSP00000379102:A397E	ENSP00000278379:A406E	A	-	2	0	SLC1A2	35264949	1.000000	0.71417	0.968000	0.41197	0.388000	0.30384	9.813000	0.99286	2.813000	0.96785	0.561000	0.74099	GCG			0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000258181.1		NM_004171	
PTGDR2	11251	broad.mit.edu	37	11	60620376	60620376	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:60620376C>T	ENST00000332539.4	-	2	931	c.820G>A	c.(820-822)Gca>Aca	p.A274T	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	274					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	CCCGGGTTTGCGTGCGCCCGC	0.726																																					p.A274T													.	.			0			c.G820A												4.0	4.0	4.0					11																	60620376		1619	3148	4767	SO:0001583	missense	11251	exon2			GGTTTGCGTGCGC	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.820G>A	11.37:g.60620376C>T	ENSP00000332812:p.Ala274Thr		Somatic	43	0.023255814	1		WXS	Illumina HiSeq	Phase_I	55	0.09	5	NM_004778	0		0	O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	C	1.523	-0.546343	0.04024	.	.	ENSG00000183134	ENST00000332539	T	0.71579	-0.58	4.6	-8.23	0.01033	GPCR, rhodopsin-like superfamily (1);	1.505870	0.04221	N	0.333602	T	0.49762	0.1576	L	0.31065	0.9	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.23833	-1.0177	10	0.19590	T	0.45	.	5.5057	0.16852	0.4357:0.1467:0.0:0.4175	.	274	Q9Y5Y4	GPR44_HUMAN	T	274	ENSP00000332812:A274T	ENSP00000332812:A274T	A	-	1	0	GPR44	60376952	.	.	0.003000	0.11579	0.019000	0.09904	.	.	-1.219000	0.02597	-2.566000	0.00172	GCA			0.726	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396328.1		NM_004778	
SLC22A12	116085	mdanderson.org	37	11	64367948	64367948	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:64367948G>T	ENST00000377574.1	+	8	2141		c.e8+1		SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000377567.2_Splice_Site|SLC22A12_ENST00000473690.1_Splice_Site	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTGTGCTCAGGTGAGGCTGGG	0.667																																					.													.	.			0			c.1292+1G>T												21.0	21.0	21.0					11																	64367948		2200	4296	6496	SO:0001630	splice_region_variant	116085	exon8			GCTCAGGTGAGGC	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1394+1G>T	11.37:g.64367948G>T			Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_001276326	0		0	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Splice_Site	SNP	ENST00000377574.1	37	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749532	0.69533	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4836	0.61353	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC22A12	64124524	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	6.609000	0.74173	2.250000	0.74265	0.561000	0.74099	.			0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104966.2		NM_144585	Intron
RP11-360K13.1	0	broad.mit.edu	37	11	96486607	96486607	+	lincRNA	DEL	T	T	-			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:96486607delT	ENST00000527528.1	+	0	158																											CCTATGGCTCTCCCAGTACCT	0.498																																					.													.	.			0			.																																											0	.			TGGCTCTCCCAGT																													11.37:g.96486607delT			Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000527528.1	37																																																																																						0.498	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000395474.1			
DDX10	1662	mdanderson.org	37	11	108594024	108594024	+	Silent	SNP	A	A	G			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr11:108594024A>G	ENST00000322536.3	+	13	1929	c.1800A>G	c.(1798-1800)aaA>aaG	p.K600K	DDX10_ENST00000526794.1_Silent_p.K600K	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	600					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAAAAGCAAAAGGATCTCAAG	0.443			T	NUP98	AML*																																p.K600K				Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	.			1	Deletion - In frame(1)	breast(1)	c.A1800G												99.0	97.0	97.0					11																	108594024		2201	4298	6499	SO:0001819	synonymous_variant	1662	exon13			AGCAAAAGGATCT	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1800A>G	11.37:g.108594024A>G			Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_004398	84	0.00	0	B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	CCDS8342.1																																																																																					0.443	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390343.1		NM_004398	
DCP1B	196513	mdanderson.org	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0				p.Q252H													DCP1B,bladder,carcinoma,0,13	DCP1B	0	13	8	Substitution - Missense(8)	endometrium(5)|lung(2)|large_intestine(1)	c.G756C												35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513	exon7			CTGCTGCTGGTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_152640	68	0.00	0	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG			0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398244.1		NM_152640	
FGD4	121512	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	12	32734925	32734925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr12:32734925G>T	ENST00000427716.2	+	4	548	c.124G>T	c.(124-126)Gag>Tag	p.E42*	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000472289.1_Nonsense_Mutation_p.E42*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.E179*|FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000525053.1_Nonsense_Mutation_p.E154*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.E127*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	42	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTTGAAGAAAGAGTCTGCTGT	0.388																																					p.E42X													.	.			0			c.G124T												78.0	80.0	79.0					12																	32734925		2203	4300	6503	SO:0001587	stop_gained	121512	exon4			AAGAAAGAGTCTG	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.124G>T	12.37:g.32734925G>T	ENSP00000394487:p.Glu42*		Somatic	108	0	0		WXS	Illumina HiSeq	.	260	0.04	11	NM_139241	46	0.00	0	Q6ULS2|Q8TCP6	Nonsense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557243	0.96514	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000525053;ENST00000395742	.	.	.	4.1	3.21	0.36854	.	0.504438	0.17994	N	0.155118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.2905	10.4706	0.44635	0.0916:0.0:0.9084:0.0	.	.	.	.	X	179;127;42;42;154;23	.	ENSP00000379089:E42X	E	+	1	0	FGD4	32626192	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	4.315000	0.59172	1.065000	0.40693	0.563000	0.77884	GAG			0.388	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268017.1		NM_139241	
TMEM117	84216	mdanderson.org	37	12	44537344	44537344	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr12:44537344G>T	ENST00000266534.3	+	4	554	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	TMEM117_ENST00000551577.1_Missense_Mutation_p.D143Y|TMEM117_ENST00000536799.1_Intron	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	143						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATCATTACAGACTATATGGG	0.423																																					p.D143Y													.	.			0			c.G427T												112.0	111.0	111.0					12																	44537344		2203	4300	6503	SO:0001583	missense	84216	exon4			ATTACAGACTATA	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.427G>T	12.37:g.44537344G>T	ENSP00000266534:p.Asp143Tyr		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_032256	4	0.00	0		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986000	0.74589	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.52057	0.68;0.68	5.75	4.86	0.63082	.	0.142348	0.64402	D	0.000007	T	0.39332	0.1074	L	0.29908	0.895	0.80722	D	1	B;B	0.28324	0.207;0.207	B;B	0.26969	0.075;0.075	T	0.31166	-0.9953	10	0.72032	D	0.01	-12.3387	16.2791	0.82664	0.0:0.1407:0.8593:0.0	.	143;143	F8VS00;Q9H0C3	.;TM117_HUMAN	Y	143	ENSP00000448595:D143Y;ENSP00000266534:D143Y	ENSP00000266534:D143Y	D	+	1	0	TMEM117	42823611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	1.420000	0.47138	0.655000	0.94253	GAC			0.423	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403969.1		NM_032256	
NCOR2	9612	hgsc.bcm.edu;mdanderson.org	37	12	124887102	124887102	+	Silent	SNP	C	C	T	rs7488825		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr12:124887102C>T	ENST00000405201.1	-	14	1488	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	NCOR2_ENST00000397355.1_Silent_p.Q496Q|NCOR2_ENST00000404621.1_Silent_p.Q495Q|NCOR2_ENST00000429285.2_Silent_p.Q495Q|NCOR2_ENST00000356219.3_Silent_p.Q496Q|NCOR2_ENST00000404121.2_Silent_p.Q66Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	496	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgttgttgctgctgctgTC	0.627																																					p.Q496Q													.	.			0			c.G1488A												9.0	10.0	9.0					12																	124887102		2049	4171	6220	SO:0001819	synonymous_variant	9612	exon16			TTGTTGCTGCTGC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1488G>A	12.37:g.124887102C>T			Somatic	43	0	0		WXS	Illumina HiSeq	.	66	0.11	7	NM_006312	21	0.10	2	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																					0.627	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312	
EBPL	84650	broad.mit.edu	37	13	50235138	50235138	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	196					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.Q196P(2)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383																																					p.Q196P	NSCLC(39;857 1083 36109 42364 51411)												EBPL,NS,carcinoma,0,2	EBPL	44	2	2	Substitution - Missense(2)	endometrium(2)	c.A587C												73.0	73.0	73.0					13																	50235138		2203	4300	6503	SO:0001583	missense	84650	exon4			TCTTTCTGATGCA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.587A>C	13.37:g.50235138T>G	ENSP00000242827:p.Gln196Pro		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	120	0.03	4	NM_032565	509	0.00	0	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722268	0.48728	.	.	ENSG00000123179	ENST00000242827	D	0.97994	-4.65	5.61	-2.45	0.06481	.	1.466260	0.03646	N	0.240220	D	0.94876	0.8344	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	D	0.86530	0.1821	10	0.30078	T	0.28	-0.1548	6.1064	0.20075	0.3657:0.0:0.2518:0.3825	.	196	Q9BY08	EBPL_HUMAN	P	196	ENSP00000242827:Q196P	ENSP00000242827:Q196P	Q	-	2	0	EBPL	49133139	0.002000	0.14202	0.003000	0.11579	0.996000	0.88848	-0.059000	0.11731	-0.151000	0.11176	0.528000	0.53228	CAG			0.383	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044932.2		NM_032565	
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					p.L189V	NSCLC(39;857 1083 36109 42364 51411)												EBPL,NS,carcinoma,0,9	EBPL	44	9	9	Substitution - Missense(9)	endometrium(6)|kidney(3)	c.C565G												67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650	exon4			GTTCTAGCCATGA	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	120	0.03	4	NM_032565	570	0.00	1	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA			0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044932.2		NM_032565	
IRS2	8660	broad.mit.edu;bcgsc.ca;mdanderson.org	37	13	110435838	110435838	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr13:110435838C>T	ENST00000375856.3	-	1	3077	c.2563G>A	c.(2563-2565)Ggg>Agg	p.G855R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	855					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGCCGGCCCCGAAGGCGCTG	0.761																																					p.G855R	Melanoma(100;613 2409 40847)												.	IRS2	44		0			c.G2563A												2.0	2.0	2.0					13																	110435838		1563	3133	4696	SO:0001583	missense	8660	exon1			CGGCCCCGAAGGC	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2563G>A	13.37:g.110435838C>T	ENSP00000365016:p.Gly855Arg		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	25	0.48	12	NM_003749	0		0	Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	3.588	-0.084237	0.07097	.	.	ENSG00000185950	ENST00000375856	T	0.54866	0.55	4.52	2.73	0.32206	.	1.374220	0.05752	U	0.603292	T	0.48926	0.1527	M	0.64997	1.995	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.34030	-0.9845	10	0.18276	T	0.48	-10.2401	9.0681	0.36475	0.0:0.7687:0.1494:0.0819	.	855	Q9Y4H2	IRS2_HUMAN	R	855	ENSP00000365016:G855R	ENSP00000365016:G855R	G	-	1	0	IRS2	109233839	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.931000	0.28871	0.873000	0.35799	0.511000	0.50034	GGG			0.761	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045755.1		NM_003749	
MCF2L	23263	mdanderson.org	37	13	113742028	113742028	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr13:113742028C>T	ENST00000375608.3	+	24	2751	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	MCF2L_ENST00000535094.2_Missense_Mutation_p.A868V|MCF2L_ENST00000375601.3_Missense_Mutation_p.A872V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A874V|MCF2L_ENST00000375597.4_Missense_Mutation_p.A866V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A866V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A925V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A872V|MCF2L_ENST00000397030.1_Missense_Mutation_p.A901V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A898V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	898	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGATGGCTGCCGTTGGCATT	0.552																																					p.A868V													.	.			0			c.C2603T												132.0	86.0	102.0					13																	113742028		2203	4300	6503	SO:0001583	missense	23263	exon23			TGGCTGCCGTTGG	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2693C>T	13.37:g.113742028C>T	ENSP00000364758:p.Ala898Val		Somatic	78	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_001112732	4	0.00	0	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.565718|2.565718	0.45694|0.45694	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000413354;ENST00000261963	T;T;T;T;T;T;T;T;T;T|.	0.76060|.	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;-0.99|.	5.08|5.08	4.22|4.22	0.49857|0.49857	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.115998|.	0.64402|.	D|.	0.000018|.	T|T	0.68100|0.68100	0.2964|0.2964	M|M	0.78223|0.78223	2.4|2.4	0.34358|0.34358	D|D	0.69061|0.69061	D;D;D;D;D|.	0.67145|.	0.978;0.989;0.993;0.996;0.991|.	P;P;P;P;P|.	0.58266|.	0.697;0.697;0.659;0.836;0.799|.	T|T	0.76809|0.76809	-0.2822|-0.2822	10|5	0.52906|.	T|.	0.07|.	.|.	10.2631|10.2631	0.43438|0.43438	0.0:0.8471:0.0:0.1529|0.0:0.8471:0.0:0.1529	.|.	866;868;925;866;898|.	E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.	.;.;.;.;MCF2L_HUMAN|.	V|S	898;898;925;901;868;872;872;874;866;866;709|98;39	ENSP00000364758:A898V;ENSP00000401422:A898V;ENSP00000364754:A925V;ENSP00000380225:A901V;ENSP00000440374:A868V;ENSP00000397285:A872V;ENSP00000364751:A872V;ENSP00000407722:A874V;ENSP00000405639:A866V;ENSP00000364747:A866V|.	ENSP00000364747:A866V|.	A|P	+|+	2|1	0|0	MCF2L|MCF2L	112790029|112790029	1.000000|1.000000	0.71417|0.71417	0.021000|0.021000	0.16686|0.16686	0.003000|0.003000	0.03518|0.03518	4.713000|4.713000	0.61895|0.61895	2.346000|2.346000	0.79739|0.79739	0.655000|0.655000	0.94253|0.94253	GCC|CCG			0.552	MCF2L-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000045849.4			
PRKCH	5583	mdanderson.org	37	14	62016436	62016436	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr14:62016436G>T	ENST00000332981.5	+	14	2324	c.1939G>T	c.(1939-1941)Gac>Tac	p.D647Y	PRKCH_ENST00000555082.1_Missense_Mutation_p.D486Y|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Intron	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	647	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TTTTGACCCTGACTTCATAAA	0.403																																					p.D647Y	Melanoma(135;863 1779 8064 14443 26348)												PRKCH,NS,carcinoma,0,1	PRKCH	0	1	0			c.G1939T												139.0	142.0	141.0					14																	62016436		2203	4300	6503	SO:0001583	missense	5583	exon14			GACCCTGACTTCA	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1939G>T	14.37:g.62016436G>T	ENSP00000329127:p.Asp647Tyr		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_006255	25	0.00	0	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311849	0.81358	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.59906	0.23;0.23	5.6	4.71	0.59529	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.088817	0.47455	D	0.000233	T	0.72819	0.3508	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75997	-0.3120	10	0.72032	D	0.01	.	14.6862	0.69052	0.0697:0.0:0.9303:0.0	.	647	P24723	KPCL_HUMAN	Y	647;486	ENSP00000329127:D647Y;ENSP00000450981:D486Y	ENSP00000329127:D647Y	D	+	1	0	PRKCH	61086189	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.808000	0.99193	1.372000	0.46190	0.655000	0.94253	GAC			0.403	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276974.2		NM_006255	
ADAM21P1	145241	broad.mit.edu	37	14	70713742	70713742	+	RNA	SNP	G	G	T	rs371307290		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr14:70713742G>T	ENST00000530196.1	-	0	776					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CCACAACAACGAGCTCCAGAA	0.433																																					.													.	.			0			.																																											0	.			AACAACGAGCTCC			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713742G>T			Somatic	106	0.0094339623	1		WXS	Illumina HiSeq	Phase_I	110	0.10	11	.	0		0		RNA	SNP	ENST00000530196.1	37																																																																																						0.433	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000390451.1		NG_002467	
VPS18	57617	mdanderson.org	37	15	41191492	41191492	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr15:41191492C>A	ENST00000220509.5	+	4	815	c.476C>A	c.(475-477)cCc>cAc	p.P159H	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	159					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACAGGCCCCATCCTGGTC	0.617																																					p.P159H													.	.			0			c.C476A												94.0	92.0	93.0					15																	41191492		2203	4300	6503	SO:0001583	missense	57617	exon4			CAGGCCCCATCCT	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.476C>A	15.37:g.41191492C>A	ENSP00000220509:p.Pro159His		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_020857	19	0.00	0	Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764363	0.69878	.	.	ENSG00000104142	ENST00000220509	T	0.46819	0.86	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.69823	2.125	0.80722	D	1	P	0.42908	0.793	B	0.43225	0.412	T	0.58956	-0.7544	10	0.45353	T	0.12	-31.2601	18.2511	0.90004	0.0:1.0:0.0:0.0	.	159	Q9P253	VPS18_HUMAN	H	159	ENSP00000220509:P159H	ENSP00000220509:P159H	P	+	2	0	VPS18	38978784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.604000	0.88044	0.650000	0.86243	CCC			0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252443.2			
EPB42	2038	mdanderson.org	37	15	43500507	43500507	+	Silent	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr15:43500507G>A	ENST00000441366.2	-	8	1221	c.996C>T	c.(994-996)tgC>tgT	p.C332C	EPB42_ENST00000300215.3_Silent_p.C362C|EPB42_ENST00000540029.1_Silent_p.C254C|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	332					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GCGTCATCCAGCACTCTGTGG	0.527																																					p.C362C													.	.			0			c.C1086T												64.0	55.0	58.0					15																	43500507		2203	4299	6502	SO:0001819	synonymous_variant	2038	exon8			CATCCAGCACTCT	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.996C>T	15.37:g.43500507G>A			Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_000119	0		0	Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	CCDS45249.1																																																																																					0.527	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432219.1		NM_000119	
PLEKHO2	80301	mdanderson.org	37	15	65157590	65157590	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr15:65157590G>T	ENST00000323544.4	+	6	1104	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	326	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCTCCATGGGTGAGATGCA	0.597																																					p.G326C													.	.			0			c.G976T												50.0	56.0	54.0					15																	65157590		2202	4299	6501	SO:0001583	missense	80301	exon6			TCCATGGGTGAGA	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.976G>T	15.37:g.65157590G>T	ENSP00000326706:p.Gly326Cys		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_025201	22	0.00	0	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482550	0.12581	.	.	ENSG00000241839	ENST00000323544	T	0.33654	1.4	5.4	0.262	0.15597	.	0.728010	0.14246	N	0.331770	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	P;P	0.50156	0.932;0.889	B;B	0.40285	0.325;0.174	T	0.12426	-1.0548	10	0.56958	D	0.05	.	4.6181	0.12437	0.59:0.1552:0.2547:0.0	.	276;326	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	C	326	ENSP00000326706:G326C	ENSP00000326706:G326C	G	+	1	0	PLEKHO2	62944643	0.089000	0.21612	0.527000	0.27925	0.175000	0.22909	0.160000	0.16462	0.061000	0.16311	-0.469000	0.05056	GGT			0.597	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256659.1		NM_025201	
CLCN7	1186	broad.mit.edu;mdanderson.org	37	16	1505139	1505139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:1505139G>T	ENST00000382745.4	-	12	1699	c.1094C>A	c.(1093-1095)tCg>tAg	p.S365*	CLCN7_ENST00000262318.8_Nonsense_Mutation_p.S341*|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Nonsense_Mutation_p.S341*	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	365					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGTTACCTCCGAGTCAAACCT	0.532																																					p.S365X													.	CLCN7	53		0			c.C1094A												160.0	133.0	142.0					16																	1505139		2198	4300	6498	SO:0001587	stop_gained	1186	exon12			ACCTCCGAGTCAA	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1094C>A	16.37:g.1505139G>T	ENSP00000372193:p.Ser365*		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	89	0.06	5	NM_001287	33	0.00	0	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Nonsense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258994	0.59321	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	.	.	.	5.11	2.98	0.34508	.	0.198970	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.875	10.0015	0.41931	0.0:0.2763:0.5816:0.1421	.	.	.	.	X	341;318;365;307	.	ENSP00000262318:S318X	S	-	2	0	CLCN7	1445140	0.335000	0.24748	0.766000	0.31476	0.253000	0.25986	0.632000	0.24583	1.094000	0.41399	0.313000	0.20887	TCG			0.532	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000103598.2		NM_001287	
VAT1L	57687	mdanderson.org	37	16	77822666	77822666	+	Silent	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:77822666C>T	ENST00000302536.2	+	1	240	c.87C>T	c.(85-87)ggC>ggT	p.G29G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	29							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGGGCGGCGGCGGCGACGGCT	0.706																																					p.G29G													.	.			0			c.C87T												11.0	12.0	11.0					16																	77822666		2069	4027	6096	SO:0001819	synonymous_variant	57687	exon1			CGGCGGCGGCGAC	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.87C>T	16.37:g.77822666C>T			Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	21	0.10	2	NM_020927	0		0	Q8IYW8	Silent	SNP	ENST00000302536.2	37	CCDS32492.1																																																																																					0.706	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434010.1		NM_020927	
SLC7A5	8140	mdanderson.org	37	16	87870225	87870225	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:87870225G>T	ENST00000261622.4	-	8	1234	c.1169C>A	c.(1168-1170)tCc>tAc	p.S390Y	SLC7A5_ENST00000565644.1_Missense_Mutation_p.S124Y|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	390					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	GATGTCCTTGGAGAAGGCGTA	0.617																																					p.S390Y													.	.			0			c.C1169A												92.0	86.0	88.0					16																	87870225		2198	4300	6498	SO:0001583	missense	8140	exon8			TCCTTGGAGAAGG	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1169C>A	16.37:g.87870225G>T	ENSP00000261622:p.Ser390Tyr		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	15	0.20	3	NM_003486	71	0.00	0	Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372495	0.82573	.	.	ENSG00000103257	ENST00000261622	D	0.90324	-2.65	5.4	4.44	0.53790	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94062	0.8097	M	0.69358	2.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94281	0.7520	10	0.72032	D	0.01	.	13.1194	0.59316	0.0772:0.0:0.9228:0.0	.	390	Q01650	LAT1_HUMAN	Y	390	ENSP00000261622:S390Y	ENSP00000261622:S390Y	S	-	2	0	SLC7A5	86427726	1.000000	0.71417	0.927000	0.36925	0.798000	0.45092	9.472000	0.97709	1.278000	0.44430	0.650000	0.86243	TCC			0.617	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269110.2		NM_003486	
VPS9D1	9605	broad.mit.edu;mdanderson.org	37	16	89782892	89782892	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr16:89782892C>T	ENST00000389386.3	-	4	533	c.409G>A	c.(409-411)Gca>Aca	p.A137T	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.A67T|VPS9D1-AS1_ENST00000562298.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	137					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TGTGACTCTGCCCCCTGAAGC	0.542																																					p.A137T													.	.			0			c.G409A												212.0	230.0	224.0					16																	89782892		1911	4125	6036	SO:0001583	missense	9605	exon4			ACTCTGCCCCCTG	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.409G>A	16.37:g.89782892C>T	ENSP00000374037:p.Ala137Thr		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	68	0.06	4	NM_004913	30	0.00	0		Missense_Mutation	SNP	ENST00000389386.3	37	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	c	16.32	3.089801	0.55968	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	5.18	5.18	0.71444	.	0.256079	0.38272	N	0.001746	T	0.40979	0.1139	L	0.46157	1.445	0.09310	N	0.999997	B	0.30482	0.281	B	0.22601	0.04	T	0.44251	-0.9340	9	0.59425	D	0.04	-31.6851	14.2002	0.65699	0.0:1.0:0.0:0.0	.	137	Q9Y2B5	CP007_HUMAN	T	137;168	.	ENSP00000261625:A168T	A	-	1	0	C16orf7	88310393	0.109000	0.22037	0.009000	0.14445	0.850000	0.48378	3.519000	0.53458	2.398000	0.81561	0.486000	0.48141	GCA			0.542	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000422508.1		NM_004913	
DERL2	51009	broad.mit.edu	37	17	5383846	5383846	+	Silent	SNP	G	G	T	rs143440894		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:5383846G>T	ENST00000158771.4	-	5	439	c.384C>A	c.(382-384)ctC>ctA	p.L128L	DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron|DERL2_ENST00000571968.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	128					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						ACACATAGACGAGCATTATTG	0.453																																					p.L128L													.	DERL2	15		0			c.C384A												115.0	124.0	121.0					17																	5383846		2203	4300	6503	SO:0001819	synonymous_variant	51009	exon5			ATAGACGAGCATT	BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"""Der1-like domain family, member 2"""			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.384C>A	17.37:g.5383846G>T			Somatic	373	0	0		WXS	Illumina HiSeq	Phase_I	436	0.01	6	NM_016041	230	0.00	0	Q9Y3A7	Silent	SNP	ENST00000158771.4	37	CCDS11073.1																																																																																					0.453	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219825.1		NM_016041	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y	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		Somatic	167	0.0359281437	6		RNA-Seq	Illumina HiSeq		211	0.07	15	NM_145301	40	0.55	22	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	
KRT16P6	353194	broad.mit.edu	37	17	16722514	16722514	+	RNA	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:16722514G>A	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							ATTAGTGAGTGTGGCCATTCT	0.572																																					.													.	.			0			.																																											0	.			GTGAGTGTGGCCA																													17.37:g.16722514G>A			Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	131	0.08	11	.	0		0		RNA	SNP	ENST00000602730.1	37																																																																																						0.572	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript		OTTHUMT00000468034.1			
RBFOX3	146713	broad.mit.edu	37	17	77111769	77111772	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	TACT	TACT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:77111769_77111772delTACT	ENST00000453134.2	-	5	538_541	c.26_29delAGTA	c.(25-30)cagtacfs	p.QY9fs	RBFOX3_ENST00000584778.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000580155.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000582043.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000415831.1_Frame_Shift_Del_p.QY9fs|RBFOX3_ENST00000583458.1_Frame_Shift_Del_p.QY9fs			A6NFN3	RFOX3_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 3	9	Pro-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perikaryon (GO:0043204)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q9P(1)		endometrium(2)	2						CGGAGGGGGGTACTGGGCGGGGGG	0.681																																					p.9_10del													.	RBFOX3	10		1	Substitution - Missense(1)	skin(1)	c.26_29del																																									SO:0001589	frameshift_variant	146713	exon5			GGGGGGTACTGGG		CCDS45805.1	17q25.3	2013-02-12			ENSG00000167281	ENSG00000167281		"""RNA binding motif (RRM) containing"""	27097	protein-coding gene	gene with protein product	"""neuronal nuclei"", ""hexaribonucleotide binding protein 3"""					16260614	Standard	NM_001082575		Approved	FOX-3, NeuN, HRNBP3	uc010dhs.4	A6NFN3	OTTHUMG00000150183	ENST00000453134.2:c.26_29delAGTA	17.37:g.77111769_77111772delTACT	ENSP00000393262:p.Gln9fs		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	NM_001082575	0		0	B4DEG6|B4DF29	Frame_Shift_Del	DEL	ENST00000453134.2	37	CCDS45805.1																																																																																					0.681	RBFOX3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437658.1		NM_001082575	
LAMA1	284217	mdanderson.org	37	18	6950970	6950970	+	Splice_Site	SNP	C	C	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr18:6950970C>A	ENST00000389658.3	-	58	8301	c.8208G>T	c.(8206-8208)aaG>aaT	p.K2736N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2736	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAACCGAGAGCCTGGGGAAAA	0.473																																					p.K2736N													.	.			0			c.G8208T												46.0	42.0	43.0					18																	6950970		2203	4300	6503	SO:0001630	splice_region_variant	284217	exon58			CGAGAGCCTGGGG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8208-1G>T	18.37:g.6950970C>A			Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	20	0.10	2	NM_005559	64	0.00	0		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432662	0.25813	.	.	ENSG00000101680	ENST00000389658	T	0.68624	-0.34	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.310546	0.33591	N	0.004754	T	0.59998	0.2235	L	0.51422	1.61	0.36696	D	0.879837	P;P	0.36789	0.561;0.57	B;B	0.35114	0.118;0.196	T	0.66866	-0.5815	10	0.38643	T	0.18	.	13.1334	0.59395	0.0:0.9165:0.0:0.0835	.	2736;66	P25391;B3KSD8	LAMA1_HUMAN;.	N	2736	ENSP00000374309:K2736N	ENSP00000374309:K2736N	K	-	3	2	LAMA1	6940970	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	0.892000	0.28322	2.581000	0.87130	0.561000	0.74099	AAG			0.473	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257369.1		NM_005559	Missense_Mutation
CIDEA	1149	mdanderson.org	37	18	12254390	12254390	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr18:12254390C>A	ENST00000320477.9	+	1	73	c.8C>A	c.(7-9)gCc>gAc	p.A3D		NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	3					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GCCATGGAGGCCGCCCGGGAC	0.706																																					p.A3D													.	.			0			c.C8A												28.0	29.0	29.0					18																	12254390		2200	4294	6494	SO:0001583	missense	1149	exon1			TGGAGGCCGCCCG	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.8C>A	18.37:g.12254390C>A	ENSP00000320209:p.Ala3Asp		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	19	0.16	3	NM_001279	1	0.00	0	B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473643	0.26423	.	.	ENSG00000176194	ENST00000320477	T	0.44881	0.91	2.52	-0.879	0.10613	.	.	.	.	.	T	0.20455	0.0492	N	0.14661	0.345	0.09310	N	0.999999	B	0.19583	0.037	B	0.15870	0.014	T	0.16808	-1.0390	9	0.33940	T	0.23	.	3.4016	0.07325	0.0:0.3305:0.2128:0.4567	.	3	O60543	CIDEA_HUMAN	D	3	ENSP00000320209:A3D	ENSP00000320209:A3D	A	+	2	0	CIDEA	12244390	0.000000	0.05858	0.781000	0.31783	0.860000	0.49131	-0.730000	0.04915	-0.212000	0.10109	0.313000	0.20887	GCC			0.706	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254599.2		NM_001279	
ATP4A	495	mdanderson.org	37	19	36050969	36050969	+	Missense_Mutation	SNP	A	A	T	rs2733743	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:36050969A>T	ENST00000262623.3	-	7	822	c.794T>A	c.(793-795)gTg>gAg	p.V265E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	265			V -> A (in dbSNP:rs2733743). {ECO:0000269|PubMed:2160952}.		ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CAGGCCCTGCACGGTGCCTGC	0.662																																					p.V265E													.	.			0			c.T794A												37.0	33.0	34.0					19																	36050969		2203	4299	6502	SO:0001583	missense	495	exon7			CCCTGCACGGTGC		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.794T>A	19.37:g.36050969A>T	ENSP00000262623:p.Val265Glu		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	47	0.04	2	NM_000704	0		0	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857503	0.32791	.	.	ENSG00000105675	ENST00000262623	D	0.91068	-2.78	4.08	3.01	0.34805	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000008	D	0.82903	0.5138	L	0.27053	0.805	0.36535	P	0.12901700000000005	B	0.22746	0.074	B	0.23852	0.049	T	0.80473	-0.1367	9	0.87932	D	0	.	7.5285	0.27668	0.0964:0.1674:0.7361:0.0	.	265	P20648	ATP4A_HUMAN	E	265	ENSP00000262623:V265E	ENSP00000262623:V265E	V	-	2	0	ATP4A	40742809	1.000000	0.71417	0.008000	0.14137	0.249000	0.25844	7.772000	0.85439	0.482000	0.27582	-0.224000	0.12420	GTG			0.662	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000109470.2		NM_000704	
WDR62	284403	mdanderson.org	37	19	36577593	36577593	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:36577593G>T	ENST00000270301.7	+	13	1647	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L	WDR62_ENST00000401500.2_Silent_p.L549L			O43379	WDR62_HUMAN	WD repeat domain 62	549					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCACAGGGCTGACCTTGCTGG	0.607																																					p.L549L													.	.			0			c.G1647T												51.0	35.0	40.0					19																	36577593		2202	4300	6502	SO:0001819	synonymous_variant	284403	exon13			AGGGCTGACCTTG	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1647G>T	19.37:g.36577593G>T			Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_001083961	12	0.00	0	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	CCDS33001.1																																																																																					0.607	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000457436.1		NM_015671	
FCGBP	8857	broad.mit.edu	37	19	40392050	40392050	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:40392050G>A	ENST00000221347.6	-	17	8343	c.8336C>T	c.(8335-8337)gCc>gTc	p.A2779V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2779	Cys-rich.|TIL 6.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCACGCAGGCTTGGCCGTT	0.607																																					p.A2779V													.	FCGBP	416		0			c.C8336T												40.0	39.0	40.0					19																	40392050		2185	4297	6482	SO:0001583	missense	8857	exon17			ACGCAGGCTTGGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8336C>T	19.37:g.40392050G>A	ENSP00000221347:p.Ala2779Val		Somatic	284	0	0		WXS	Illumina HiSeq	Phase_I	265	0.02	4	NM_003890	21	0.00	0	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	0.693	-0.793780	0.02862	.	.	ENSG00000090920	ENST00000221347	D	0.90844	-2.74	2.66	1.55	0.23275	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	1.572440	0.04474	U	0.376608	D	0.90147	0.6921	N	0.16903	0.455	0.09310	N	1	D	0.60160	0.987	D	0.65140	0.932	T	0.80946	-0.1155	10	0.27785	T	0.31	.	10.0626	0.42284	0.0:0.3955:0.6045:0.0	.	2779	Q9Y6R7	FCGBP_HUMAN	V	2779	ENSP00000221347:A2779V	ENSP00000221347:A2779V	A	-	2	0	FCGBP	45083890	0.000000	0.05858	0.246000	0.24233	0.021000	0.10359	-1.739000	0.01840	0.421000	0.25980	0.298000	0.19748	GCC			0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462507.1		NM_003890	
ETHE1	23474	mdanderson.org	37	19	44011048	44011048	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:44011048G>A	ENST00000292147.2	-	7	785	c.719C>T	c.(718-720)gCt>gTt	p.A240V	PHLDB3_ENST00000599242.1_5'Flank|PHLDB3_ENST00000292140.5_5'Flank	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	240					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)	p.A240V(1)		central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GGCTGGAACAGCAAAGTCTGA	0.507																																					p.A240V													ETHE1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	ETHE1	0	1	1	Substitution - Missense(1)	central_nervous_system(1)	c.C719T												89.0	84.0	86.0					19																	44011048		2203	4300	6503	SO:0001583	missense	23474	exon7			GGAACAGCAAAGT		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.719C>T	19.37:g.44011048G>A	ENSP00000292147:p.Ala240Val		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_014297	282	0.00	0	Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	37	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436429	0.83885	.	.	ENSG00000105755	ENST00000292147	D	0.95724	-3.79	4.96	4.96	0.65561	.	0.137767	0.48767	D	0.000164	D	0.97711	0.9249	M	0.87381	2.88	0.50813	D	0.999894	D	0.76494	0.999	D	0.66602	0.945	D	0.98494	1.0611	10	0.87932	D	0	-20.6504	16.1381	0.81502	0.0:0.0:1.0:0.0	.	240	O95571	ETHE1_HUMAN	V	240	ENSP00000292147:A240V	ENSP00000292147:A240V	A	-	2	0	ETHE1	48702888	1.000000	0.71417	0.759000	0.31340	0.916000	0.54674	5.407000	0.66363	2.479000	0.83701	0.485000	0.47835	GCT			0.507	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463184.1		NM_014297	
RTN2	6253	broad.mit.edu;mdanderson.org	37	19	45992653	45992653	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr19:45992653G>A	ENST00000245923.4	-	6	1427	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_Missense_Mutation_p.R58C|RTN2_ENST00000344680.4_Missense_Mutation_p.R325C|RTN2_ENST00000590526.1_Missense_Mutation_p.R124C	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	398	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.R398C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		AGCACTTTGCGGTAAACCCTG	0.627																																					p.R398C													RTN2,caecum,carcinoma,+1,2	RTN2	45	2	1	Substitution - Missense(1)	ovary(1)	c.C1192T												45.0	33.0	37.0					19																	45992653		2202	4299	6501	SO:0001583	missense	6253	exon6			CTTTGCGGTAAAC	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.1192C>T	19.37:g.45992653G>A	ENSP00000245923:p.Arg398Cys		Somatic	46	0.0217391304	1		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_005619	56	0.00	0	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671235	0.47781	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.44881	0.91;0.91;0.91	4.55	4.55	0.56014	.	0.299715	0.33438	N	0.004902	T	0.34890	0.0913	N	0.08118	0	0.80722	D	1	D;P	0.64830	0.994;0.646	P;B	0.53649	0.731;0.087	T	0.38499	-0.9658	10	0.72032	D	0.01	-7.7129	12.73	0.57193	0.0:0.0:1.0:0.0	.	325;398	O75298-2;O75298	.;RTN2_HUMAN	C	325;398;58	ENSP00000345127:R325C;ENSP00000245923:R398C;ENSP00000398178:R58C	ENSP00000245923:R398C	R	-	1	0	RTN2	50684493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.236000	0.43052	2.376000	0.81061	0.558000	0.71614	CGC			0.627	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000459574.1		NM_005619	
NT5C1B	93034	broad.mit.edu	37	2	18765888	18765888	+	Silent	SNP	G	G	C			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:18765888G>C	ENST00000359846.2	-	5	872	c.795C>G	c.(793-795)tcC>tcG	p.S265S	NT5C1B_ENST00000304081.4_Silent_p.S205S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S265S|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000600945.1_Silent_p.S265S	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	265					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTGCTGCTCGGACAGAGAGT	0.652																																					p.S282S													.	NT5C1B	72		0			c.C846G												18.0	21.0	20.0					2																	18765888		2202	4298	6500	SO:0001819	synonymous_variant	93034	exon5			CTGCTCGGACAGA	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.795C>G	2.37:g.18765888G>C			Somatic	54	0.0185185185	1		WXS	Illumina HiSeq	Phase_I	57	0.05	3	NM_001199087	0		0	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1																																																																																					0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000323822.1			
APOB	338	mdanderson.org	37	2	21256356	21256356	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:21256356G>T	ENST00000233242.1	-	9	1066	c.939C>A	c.(937-939)acC>acA	p.T313T	APOB_ENST00000399256.4_Silent_p.T313T	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	313	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTGGATTTGGTGCTCTCAA	0.438																																					p.T313T													.	.			0			c.C939A												166.0	158.0	161.0					2																	21256356		2203	4300	6503	SO:0001819	synonymous_variant	338	exon9			GGATTTGGTGCTC	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.939C>A	2.37:g.21256356G>T			Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_000384	0		0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																					0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207571.1			
EML6	400954	mdanderson.org	37	2	55194165	55194165	+	Silent	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:55194165G>A	ENST00000356458.6	+	38	6043	c.5523G>A	c.(5521-5523)gtG>gtA	p.V1841V	EML6_ENST00000490828.1_3'UTR	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1841						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						AGCGCCAGGTGCATGAGGTCC	0.522																																					p.V1841V													.	.			0			c.G5523A												67.0	68.0	68.0					2																	55194165		692	1591	2283	SO:0001819	synonymous_variant	400954	exon38			CCAGGTGCATGAG		CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.5523G>A	2.37:g.55194165G>A			Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	67	0.06	4	NM_001039753	4	0.00	0	A8MUB5|B6ZDG7	Silent	SNP	ENST00000356458.6	37	CCDS46286.1																																																																																					0.522	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000324997.3		XM_001725002	
LINC01122	400955	bcgsc.ca	37	2	58688601	58688601	+	lincRNA	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:58688601G>A	ENST00000452840.1	+	0	127																											ATCTCAGCTCGTACCTTTTGA	0.428																																					.													.	.			0			.																																											0	.			CAGCTCGTACCTT																													2.37:g.58688601G>A			Somatic	74	0	0		WXS	Illumina HiSeq	Phase_1	92	0.05	5	.	116	0.01	1		RNA	SNP	ENST00000452840.1	37																																																																																						0.428	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000327022.1			
C2orf74	339804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	61389989	61389989	+	Silent	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:61389989G>A	ENST00000432605.1	+	2	129	c.129G>A	c.(127-129)agG>agA	p.R43R	C2orf74_ENST00000426997.1_5'UTR|RP11-493E12.1_ENST00000605902.1_lincRNA	NM_001143959.1	NP_001137431.1	A8MZ97	CB074_HUMAN	chromosome 2 open reading frame 74	43						integral component of membrane (GO:0016021)				endometrium(1)	1						TCCAAGGCAGGAAAGGTAAAG	0.423																																					p.R43R													.	.			0			c.G129A												119.0	109.0	112.0					2																	61389989		692	1591	2283	SO:0001819	synonymous_variant	339804	exon2			AGGCAGGAAAGGT			2p15	2012-08-06			ENSG00000237651	ENSG00000237651			34439	protein-coding gene	gene with protein product							Standard	NM_001143959		Approved	LOC339804	uc010ypm.1	A8MZ97		ENST00000432605.1:c.129G>A	2.37:g.61389989G>A			Somatic	157	0	0		WXS	Illumina HiSeq	.	127	0.28	36	NM_001143959	28	0.11	3	C9JP62	Silent	SNP	ENST00000432605.1	37																																																																																						0.423	C2orf74-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001143959	
SMYD5	10322	ucsc.edu	37	2	73453042	73453042	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:73453042G>T	ENST00000389501.4	+	13	1270	c.1225G>T	c.(1225-1227)Gca>Tca	p.A409S	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	409	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCCAGAAGATGCAGAGCTGGG	0.572																																					p.A409S													.	SMYD5	58		0			c.G1225T												95.0	90.0	92.0					2																	73453042		2203	4300	6503	SO:0001583	missense	10322	exon13			GAAGATGCAGAGC	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1225G>T	2.37:g.73453042G>T	ENSP00000374152:p.Ala409Ser		Somatic	28	0	0		WXS	Illumina HiSeq		39	0.10	4	NM_006062	53	0.00	0	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610272	0.66558	.	.	ENSG00000135632	ENST00000389501	T	0.42513	0.97	4.73	4.73	0.59995	.	0.134657	0.48767	D	0.000164	T	0.25494	0.0620	N	0.16368	0.405	0.45403	D	0.998388	B	0.29037	0.231	B	0.22386	0.039	T	0.07158	-1.0787	10	0.09338	T	0.73	-9.0105	16.812	0.85724	0.0:0.0:1.0:0.0	.	409	Q6GMV2	SMYD5_HUMAN	S	409	ENSP00000374152:A409S	ENSP00000374152:A409S	A	+	1	0	SMYD5	73306550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.152000	0.94680	2.638000	0.89438	0.655000	0.94253	GCA			0.572	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318301.1		NM_006062	
ANKRD36BP2	645784	broad.mit.edu	37	2	89104503	89104504	+	RNA	INS	-	-	C	rs149625899|rs67367050	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:89104503_89104504insC	ENST00000393525.3	+	0	4868									ankyrin repeat domain 36B pseudogene 2																		gtagatttttttcagattttgg	0.307													-|-|C|insertion	512	0.102236	0.1067	0.0965	5008	,	,		29304	0.0694		0.1064	False		,,,				2504	0.1299				.													.	.			0			.																																											0	.			ATTTTTTTCAGAT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104503_89104504insC			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	15	0.60	9	.	0		0		RNA	INS	ENST00000393525.3	37																																																																																						0.307	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000323523.1			
PLEKHB2	55041	broad.mit.edu;mdanderson.org	37	2	132110862	132110862	+	Silent	SNP	G	G	C	rs370398581	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:132110862G>C	ENST00000404460.1	+	7	747	c.693G>C	c.(691-693)ccG>ccC	p.P231P	PLEKHB2_ENST00000303908.3_Silent_p.P231P			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	96						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CCACCGCTCCGGCTCTCCCGA	0.726													.|||	3055	0.610024	0.2254	0.8184	5008	,	,		6315	0.6984		0.835	False		,,,				2504	0.6595				.													.	.			0			.												4.0	3.0	4.0					2																	132110862		581	586	1167	SO:0001819	synonymous_variant	55041	.			CGCTCCGGCTCTC		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000404460.1:c.693G>C	2.37:g.132110862G>C			Somatic	42	0.0238095238	1		WXS	Illumina HiSeq	Phase_I	37	0.24	9	.	0		0	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Silent	SNP	ENST00000404460.1	37																																																																																						0.726	PLEKHB2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000318943.2		NM_017958	
LOC150776	150776	bcgsc.ca	37	2	132258144	132258144	+	RNA	SNP	C	C	G			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr2:132258144C>G	ENST00000438378.2	+	0	708					NR_026922.1																						TTTCCTGTCTCCTACCTGCCT	0.488																																					.													.	.			0			.																																											0	.			CTGTCTCCTACCT																													2.37:g.132258144C>G			Somatic	102	0	0		WXS	Illumina HiSeq	Phase_1	104	0.08	8	.	5	0.00	0		RNA	SNP	ENST00000438378.2	37																																																																																						0.488	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000331819.7			
RRBP1	6238	bcgsc.ca	37	20	17639867	17639867	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr20:17639867C>T	ENST00000377813.1	-	3	1589	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.G429D|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000360807.4_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	429	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCCTTCTTGCCCTGGTTCTG	0.667																																					.													.	RRBP1	157		0			.																																									SO:0001583	missense	6238	.			TTCTTGCCCTGGT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1286G>A	20.37:g.17639867C>T	ENSP00000367044:p.Gly429Asp		Somatic	167	0.0119760479	2		WXS	Illumina HiSeq	Phase_1	192	0.06	12	.	775	0.06	46	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	11.75	1.733058	0.30684	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.63744	-0.06;-0.06	4.09	1.04	0.20106	.	0.245045	0.21339	N	0.076167	T	0.39886	0.1095	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.15780	-1.0425	7	0.17832	T	0.49	-5.3503	3.7716	0.08643	0.0:0.5141:0.1842:0.3017	.	.	.	.	D	429	ENSP00000367044:G429D;ENSP00000246043:G429D	ENSP00000246043:G429D	G	-	2	0	RRBP1	17587867	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	-0.314000	0.08092	0.280000	0.22209	-0.258000	0.10820	GGC			0.667	RRBP1-002	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000078125.1		NM_001042576	
SCAND1	51282	mdanderson.org	37	20	34542028	34542028	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr20:34542028G>A	ENST00000373991.3	-	3	1249	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SCAND1_ENST00000305978.2_Missense_Mutation_p.A60V			P57086	SCND1_HUMAN	SCAN domain containing 1	60					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)					Breast(12;0.00631)|all_lung(11;0.0233)					CGTAGGGATGGCTTCAGGGAC	0.716																																					p.A123V													.	.			0			c.C368T												5.0	5.0	5.0					20																	34542028		2024	4031	6055	SO:0001583	missense	51282	exon2			GGGATGGCTTCAG	AF204271	CCDS13269.1	20q11.1-q11.23	2013-01-08	2002-01-14		ENSG00000171222	ENSG00000171222		"""-"""	10566	protein-coding gene	gene with protein product		610416	"""SCAN domain-containing 1"""			10777584, 10747874, 12444922	Standard	NM_016558		Approved	SDP1, RAZ1	uc002xen.2	P57086	OTTHUMG00000032370	ENST00000373991.3:c.179C>T	20.37:g.34542028G>A	ENSP00000363103:p.Ala60Val		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_033630	290	0.00	0	Q6IAG7	Missense_Mutation	SNP	ENST00000373991.3	37	CCDS13269.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738747	0.89573	.	.	ENSG00000171222	ENST00000305978;ENST00000373991	T;T	0.09073	3.02;3.02	4.93	3.95	0.45737	.	0.000000	0.33591	U	0.004744	T	0.10637	0.0260	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.59115	0.852	T	0.12941	-1.0528	10	0.36615	T	0.2	.	6.1035	0.20061	0.0962:0.0:0.715:0.1888	.	60	P57086	SCND1_HUMAN	V	60	ENSP00000301995:A60V;ENSP00000363103:A60V	ENSP00000301995:A60V	A	-	2	0	SCAND1	34005442	0.000000	0.05858	0.037000	0.18230	0.069000	0.16628	0.013000	0.13310	1.009000	0.39289	0.655000	0.94253	GCC			0.716	SCAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078958.2		NM_016558	
MYT1	4661	broad.mit.edu	37	20	62848481	62848482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr20:62848481_62848482insC	ENST00000328439.1	+	11	2057_2058	c.1693_1694insC	c.(1693-1695)gccfs	p.A565fs	MYT1_ENST00000360149.4_Frame_Shift_Ins_p.A267fs|MYT1_ENST00000536311.1_Frame_Shift_Ins_p.A565fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCCAACGTGGCCCCCGCCACA	0.594																																					p.A565fs	GBM(59;481 1041 20555 21139 33705)												.	MYT1	152		0			c.1693_1694insC																																									SO:0001589	frameshift_variant	4661	exon11			AACGTGGCCCCCG	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1698dupC	20.37:g.62848486_62848486dupC	ENSP00000327465:p.Ala565fs		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	104	0.06	6	NM_004535	0		0	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Ins	INS	ENST00000328439.1	37	CCDS13558.1																																																																																					0.594	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080297.1		NM_004535	
TRAPPC10	7109	broad.mit.edu;mdanderson.org	37	21	45507655	45507655	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr21:45507655C>T	ENST00000291574.4	+	17	2790	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	872					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTGCGCCTGCGTACCACGTG	0.557																																					p.A872V													.	TRAPPC10	109		0			c.C2615T												113.0	97.0	102.0					21																	45507655		2203	4300	6503	SO:0001583	missense	7109	exon17			CGCCTGCGTACCA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2615C>T	21.37:g.45507655C>T	ENSP00000291574:p.Ala872Val		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	77	0.05	4	NM_003274	22	0.00	0	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761912	0.49468	.	.	ENSG00000160218	ENST00000291574	T	0.25912	1.77	5.2	5.2	0.72013	.	0.118199	0.56097	D	0.000025	T	0.17492	0.0420	L	0.27053	0.805	0.51767	D	0.999938	P	0.38395	0.629	B	0.29663	0.105	T	0.05053	-1.0909	10	0.20519	T	0.43	.	18.7251	0.91711	0.0:1.0:0.0:0.0	.	872	P48553	TPC10_HUMAN	V	872	ENSP00000291574:A872V	ENSP00000291574:A872V	A	+	2	0	TRAPPC10	44332083	1.000000	0.71417	0.860000	0.33809	0.021000	0.10359	6.913000	0.75759	2.419000	0.82065	0.563000	0.77884	GCG			0.557	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000195737.1		NM_003274	
ADORA2A	135	bcgsc.ca	37	22	24837218	24837218	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr22:24837218G>T	ENST00000337539.7	+	3	1459	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	334					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CGGAGAGCAGGTCAGCCTCCG	0.647																																					p.V334F													.	ADORA2A	44		0			c.G1000T												37.0	30.0	32.0					22																	24837218		2202	4300	6502	SO:0001583	missense	135	exon3			GAGCAGGTCAGCC	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.1000G>T	22.37:g.24837218G>T	ENSP00000336630:p.Val334Phe		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_1	44	0.09	4	NM_000675	66	0.00	0	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425014	0.43020	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.65549	-0.13;-0.16	4.95	-1.37	0.09056	.	0.498482	0.18404	N	0.142267	T	0.43433	0.1247	L	0.46157	1.445	0.27558	N	0.950288	B	0.19445	0.036	B	0.18871	0.023	T	0.27157	-1.0082	10	0.09338	T	0.73	-21.1119	5.653	0.17627	0.2918:0.2711:0.4371:0.0	.	334	P29274	AA2AR_HUMAN	F	334	ENSP00000414802:V334F;ENSP00000336630:V334F	ENSP00000336630:V334F	V	+	1	0	ADORA2A	23167218	0.042000	0.20092	0.973000	0.42090	0.975000	0.68041	0.170000	0.16663	0.138000	0.18790	0.462000	0.41574	GTC			0.647	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319971.2		NM_000675	
LL22NC03-86D4.1	105373010	broad.mit.edu	37	22	34492089	34492090	+	lincRNA	INS	-	-	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr22:34492089_34492090insT	ENST00000412218.1	+	0	114																											ctgccttgctgtttTTTTTTGT	0.366																																					.													.	.			0			.																																											0	.			CTTGCTGTTTTTT																													22.37:g.34492098_34492098dupT			Somatic	13	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0		RNA	INS	ENST00000412218.1	37																																																																																						0.366	LL22NC03-86D4.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000320580.3			
MYH9	4627	mdanderson.org	37	22	36745272	36745272	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr22:36745272G>T	ENST00000216181.5	-	2	240	c.10C>A	c.(10-12)Caa>Aaa	p.Q4K	MYH9_ENST00000401701.1_Missense_Mutation_p.Q4K	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	4					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCGGCAGCTTGCTGTGCCATG	0.512			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.Q4K				Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.			0			c.C10A												45.0	46.0	46.0					22																	36745272		2203	4300	6503	SO:0001583	missense	4627	exon2	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	CAGCTTGCTGTGC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.10C>A	22.37:g.36745272G>T	ENSP00000216181:p.Gln4Lys		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_002473	34	0.00	0	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	3.998	-0.003139	0.07773	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	D;T;T	0.84800	-1.9;-1.25;-1.09	5.32	5.32	0.75619	.	0.303685	0.31989	N	0.006754	T	0.74981	0.3788	N	0.22421	0.69	0.28337	N	0.921528	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.63598	-0.6601	10	0.28530	T	0.3	.	12.1932	0.54282	0.0:0.0:0.7105:0.2895	.	4;4	Q5BKV1;P35579	.;MYH9_HUMAN	K	4	ENSP00000216181:Q4K;ENSP00000384631:Q4K;ENSP00000414852:Q4K	ENSP00000216181:Q4K	Q	-	1	0	MYH9	35075218	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.810000	0.47979	2.491000	0.84063	0.563000	0.77884	CAA			0.512	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000259110.3		NM_002473	
PIM3	415116	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	50355011	50355011	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr22:50355011A>G	ENST00000360612.4	+	3	676	c.241A>G	c.(241-243)Agc>Ggc	p.S81G		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGTGGGGCAGCCTGGTAAG	0.756																																					p.S81G													.	.			0			c.A241G												5.0	7.0	7.0					22																	50355011		1644	3292	4936	SO:0001583	missense	415116	exon3			TGGGGCAGCCTGG	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.241A>G	22.37:g.50355011A>G	ENSP00000353824:p.Ser81Gly		Somatic	115	0	0		WXS	Illumina HiSeq	.	116	0.17	20	NM_001001852	12	0.42	5	A5D8X8|A8K7J0|B1B0P0|Q68BM2	Missense_Mutation	SNP	ENST00000360612.4	37	CCDS33678.1	.	.	.	.	.	.	.	.	.	.	a	10.93	1.488760	0.26686	.	.	ENSG00000198355	ENST00000360612	T	0.66099	-0.19	2.44	0.0228	0.14134	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.310687	0.28338	U	0.015708	T	0.41949	0.1181	N	0.20986	0.625	0.19300	N	0.999975	B	0.25351	0.124	B	0.32393	0.145	T	0.25328	-1.0135	10	0.44086	T	0.13	.	3.0972	0.06313	0.6568:0.0:0.1337:0.2095	.	81	Q86V86	PIM3_HUMAN	G	81	ENSP00000353824:S81G	ENSP00000353824:S81G	S	+	1	0	PIM3	48741015	0.000000	0.05858	0.664000	0.29753	0.890000	0.51754	0.102000	0.15272	-0.341000	0.08376	-0.683000	0.03753	AGC			0.756	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317406.1		NM_001001852	
RAF1	5894	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	12641718	12641718	+	Missense_Mutation	SNP	G	G	A	rs5746220	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr3:12641718G>A	ENST00000251849.4	-	9	1362	c.923C>T	c.(922-924)cCg>cTg	p.P308L	RAF1_ENST00000542177.1_Missense_Mutation_p.P227L|RAF1_ENST00000442415.2_Missense_Mutation_p.P328L|RAF1_ENST00000534997.1_Missense_Mutation_p.P93L	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	308			P -> L (in dbSNP:rs5746220). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGGGGTTTTCGGCTGTGACCA	0.507			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				G|||	31	0.0061901	0.0227	0.0014	5008	,	,		14941	0.0		0.0	False		,,,				2504	0.0				p.P308L				Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.			0			c.C923T							G	LEU/PRO	63,4343	58.1+/-94.6	1,61,2141	83.0	81.0	82.0		923	5.8	1.0	3	dbSNP_114	82	0,8600		0,0,4300	yes	missense	RAF1	NM_002880.3	98	1,61,6441	AA,AG,GG		0.0,1.4299,0.4844	benign	308/649	12641718	63,12943	2203	4300	6503	SO:0001583	missense	5894	exon9	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	GTTTTCGGCTGTG	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.923C>T	3.37:g.12641718G>A	ENSP00000251849:p.Pro308Leu		Somatic	114	0	0		WXS	Illumina HiSeq	.	143	0.25	36	NM_002880	142	0.27	39	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	17	0.007783882783882784	16	0.032520325203252036	1	0.0027624309392265192	0	0.0	0	0.0	G	17.11	3.305542	0.60305	0.014299	0.0	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	T;T;T;T;T	0.77098	-1.01;-1.07;-0.98;-0.99;-0.99	5.82	5.82	0.92795	.	0.095798	0.85682	D	0.000000	T	0.45458	0.1343	N	0.20986	0.625	0.80722	D	1	B;B;B	0.24092	0.097;0.007;0.021	B;B;B	0.17433	0.018;0.007;0.007	T	0.59867	-0.7373	10	0.72032	D	0.01	.	18.2796	0.90094	0.0:0.0:1.0:0.0	rs5746220;rs52789889;rs5746220	227;93;308	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	L	308;328;187;93;227	ENSP00000251849:P308L;ENSP00000401888:P328L;ENSP00000398591:P187L;ENSP00000441186:P93L;ENSP00000443567:P227L	ENSP00000251849:P308L	P	-	2	0	RAF1	12616718	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	6.704000	0.74639	2.752000	0.94435	0.655000	0.94253	CCG	0.009		0.507	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252015.2		NM_002880	
IP6K2	51447	mdanderson.org	37	3	48727074	48727074	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr3:48727074C>T	ENST00000328631.5	-	5	900	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	226					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACCATGTTGTCGTGTGCCCAT	0.483																																					p.R226Q													.	.			0			c.G677A												175.0	138.0	151.0					3																	48727074		2203	4300	6503	SO:0001583	missense	51447	exon5			TGTTGTCGTGTGC	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.677G>A	3.37:g.48727074C>T	ENSP00000331103:p.Arg226Gln		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	74	0.05	4	NM_016291	386	0.00	0	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450746	0.84101	.	.	ENSG00000068745	ENST00000328631	T	0.24538	1.85	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	M	0.62266	1.93	0.80722	D	1	P	0.48834	0.916	B	0.37015	0.239	T	0.14090	-1.0485	10	0.49607	T	0.09	-25.3535	19.6611	0.95871	0.0:1.0:0.0:0.0	.	226	Q9UHH9	IP6K2_HUMAN	Q	226	ENSP00000331103:R226Q	ENSP00000331103:R226Q	R	-	2	0	IP6K2	48702078	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.066000	0.71185	2.643000	0.89663	0.655000	0.94253	CGA			0.483	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257521.2		NM_016291	
PCDH10	57575	hgsc.bcm.edu;mdanderson.org	37	4	134072954	134072954	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr4:134072954G>T	ENST00000264360.5	+	1	2485	c.1659G>T	c.(1657-1659)gcG>gcT	p.A553A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCCCAGGCGCTGGCTGGTA	0.607																																					p.A553A													PCDH10,NS,carcinoma,+2,1	PCDH10	2	1	0			c.G1659T												46.0	52.0	50.0					4																	134072954		2046	4057	6103	SO:0001819	synonymous_variant	57575	exon1			CCAGGCGCTGGCT	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1659G>T	4.37:g.134072954G>T			Somatic	80	0	0		WXS	Illumina HiSeq	.	46	0.07	3	NM_032961	5	0.00	0	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	CCDS34063.1																																																																																					0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000364457.2		NM_032961	
TMEM144	55314	mdanderson.org	37	4	159161570	159161570	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr4:159161570G>T	ENST00000296529.6	+	10	1322	c.802G>T	c.(802-804)Gga>Tga	p.G268*	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	268						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGTCCTACCAGGTAAGAATAT	0.378																																					p.G268X													.	.			0			c.G802T												103.0	96.0	99.0					4																	159161570		2203	4300	6503	SO:0001630	splice_region_variant	55314	exon10			CTACCAGGTAAGA	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.802+1G>T	4.37:g.159161570G>T			Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	55	0.05	3	NM_018342	5	0.00	0	D3DP24|Q49A05|Q9NUT3	Nonsense_Mutation	SNP	ENST00000296529.6	37	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	42	9.729292	0.99249	.	.	ENSG00000164124	ENST00000296529	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-41.4543	17.588	0.87988	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000296529:G268X	G	+	1	0	TMEM144	159381020	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.676000	0.84012	2.444000	0.82710	0.467000	0.42956	GGA			0.378	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365597.1		NM_018342	Nonsense_Mutation
NEK1	4750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	170345935	170345935	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr4:170345935A>C	ENST00000439128.2	-	29	3547	c.2907T>G	c.(2905-2907)gaT>gaG	p.D969E	NEK1_ENST00000512193.1_Missense_Mutation_p.D900E|NEK1_ENST00000507142.1_Missense_Mutation_p.D997E|NEK1_ENST00000510533.1_Missense_Mutation_p.D925E|NEK1_ENST00000511633.1_Missense_Mutation_p.D953E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	969					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGTGCTGAGAATCATTGGTTC	0.383																																					p.D997E													.	.			0			c.T2991G												120.0	114.0	116.0					4																	170345935		1877	4101	5978	SO:0001583	missense	4750	exon31			CTGAGAATCATTG	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.2907T>G	4.37:g.170345935A>C	ENSP00000408020:p.Asp969Glu		Somatic	86	0	0		WXS	Illumina HiSeq	.	93	0.10	9	NM_001199397	6	0.17	1	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	A	5.974	0.363576	0.11296	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.66460	-0.21;-0.19;-0.2;-0.19;-0.19	5.14	2.73	0.32206	.	0.380647	0.25714	N	0.028797	T	0.48642	0.1511	L	0.51422	1.61	0.23994	N	0.996232	B;B;B;B;B	0.18166	0.026;0.015;0.012;0.015;0.005	B;B;B;B;B	0.16289	0.015;0.015;0.01;0.015;0.007	T	0.36359	-0.9751	10	0.02654	T	1	.	4.1086	0.10049	0.6071:0.0:0.2484:0.1445	.	900;953;997;925;969	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	E	969;953;925;997;900	ENSP00000408020:D969E;ENSP00000423332:D953E;ENSP00000427653:D925E;ENSP00000424757:D997E;ENSP00000424938:D900E	ENSP00000408020:D969E	D	-	3	2	NEK1	170582510	1.000000	0.71417	0.569000	0.28460	0.218000	0.24690	2.190000	0.42630	0.430000	0.26230	-0.250000	0.11733	GAT			0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000363157.3			
C5orf60	285679	mdanderson.org	37	5	179069468	179069468	+	Missense_Mutation	SNP	A	A	T	rs62405726	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr5:179069468A>T	ENST00000448248.2	-	5	731	c.706T>A	c.(706-708)Tgg>Agg	p.W236R	C5orf60_ENST00000506142.1_5'Flank	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	0	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						CCCTGCCTCCACCTGCCTGCA	0.572																																					p.W236R													C5orf60,caecum,carcinoma,+1,1	C5orf60	1	1	0			c.T706A												60.0	54.0	56.0					5																	179069468		692	1589	2281	SO:0001583	missense	285679	exon5			GCCTCCACCTGCC	BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.706T>A	5.37:g.179069468A>T	ENSP00000404583:p.Trp236Arg		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	54	0.06	3	NM_001142306	0		0	A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	ENST00000448248.2	37	CCDS47353.1	.	.	.	.	.	.	.	.	.	.	a	0.025	-1.375880	0.01214	.	.	ENSG00000204661	ENST00000448248	T	0.19938	2.11	0.517	-1.03	0.10102	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.61592	0.891;0.891	T	0.11817	-1.0572	7	0.07175	T	0.84	.	.	.	.	.	240;236	A6NFR6-2;A6NFR6-4	.;.	R	236	ENSP00000404583:W236R	ENSP00000404583:W236R	W	-	1	0	C5orf60	179002074	0.006000	0.16342	0.002000	0.10522	0.006000	0.05464	0.475000	0.22164	-0.672000	0.05266	-0.967000	0.02615	TGG			0.572	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372148.2		NM_001142306	
HLA-A	3105	hgsc.bcm.edu	37	6	29911272	29911272	+	Missense_Mutation	SNP	T	T	A	rs76185201	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:29911272T>A	ENST00000396634.1	+	5	912	c.571T>A	c.(571-573)Tgg>Agg	p.W191R	HLA-A_ENST00000376802.2_Missense_Mutation_p.W191R|HLA-A_ENST00000376806.5_Missense_Mutation_p.W191R|HLA-A_ENST00000376809.5_Missense_Mutation_p.W191R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	191	Alpha-2.		EW -> DG (in allele A*31:05).		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)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTGCGTGGAGTGGCTCCGCAG	0.677									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.W191R													HLA-A,colon,carcinoma,0,1	HLA-A	0	1	0			c.T571A												49.0	39.0	43.0					6																	29911272		1510	2705	4215	SO:0001583	missense	3105	exon3	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	GTGGAGTGGCTCC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.571T>A	6.37:g.29911272T>A	ENSP00000379873:p.Trp191Arg		Somatic	67	0.0149253731	1		WXS	Illumina HiSeq	.	90	0.07	6	NM_001242758	1252	0.00	0	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	13.35	2.209848	0.39003	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000376802	T;T;T;T	0.00013	9.26;9.26;9.26;9.26	3.78	-2.67	0.06059	MHC class I, alpha chain, alpha1/alpha2 (8);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	2.778300	0.01729	U	0.028724	T	0.00144	0.0004	H	0.94582	3.555	0.09310	N	1	B;P;B;P;B;P;P	0.41498	0.01;0.752;0.128;0.639;0.128;0.752;0.639	B;P;B;P;B;P;P	0.51101	0.0;0.659;0.274;0.523;0.163;0.659;0.523	T	0.27872	-1.0061	10	0.87932	D	0	.	4.7021	0.12832	0.0:0.188:0.3051:0.5069	rs3098019;rs9260161;rs41558617;rs52818888	70;191;191;191;191;191;191	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	R	191	ENSP00000379873:W191R;ENSP00000366002:W191R;ENSP00000366005:W191R;ENSP00000365998:W191R	ENSP00000365998:W191R	W	+	1	0	HLA-A	30019251	0.737000	0.28175	0.000000	0.03702	0.112000	0.19704	0.741000	0.26202	-0.555000	0.06142	0.397000	0.26171	TGG	0.001		0.677	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252909.1		NM_002116	
TMEM30A	55754	mdanderson.org	37	6	75994279	75994279	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:75994279G>T	ENST00000230461.6	-	1	405	c.76C>A	c.(76-78)Cgg>Agg	p.R26R	RP1-234P15.4_ENST00000607221.1_lincRNA|TMEM30A_ENST00000475111.2_Silent_p.R26R	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	26					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGGTCTCCGAGTCTTCGCG	0.617																																					p.R26R													.	.			0			c.C76A												81.0	80.0	80.0					6																	75994279		2203	4300	6503	SO:0001819	synonymous_variant	55754	exon1			GTCTCCGAGTCTT	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.76C>A	6.37:g.75994279G>T			Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_001143958	13	0.00	0	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	ENST00000230461.6	37	CCDS4983.1																																																																																					0.617	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041248.2		NM_018247	
SF3B5	83443	ucsc.edu	37	6	144416537	144416537	+	Missense_Mutation	SNP	A	A	C	rs199548273	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:144416537A>C	ENST00000367569.2	-	1	217	c.98T>G	c.(97-99)gTg>gGg	p.V33G		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	33					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GTGTTGGTTCACCAGCCACTC	0.587																																					p.V33G													.	SF3B5	6		0			c.T98G												92.0	76.0	81.0					6																	144416537		2203	4300	6503	SO:0001583	missense	83443	exon1			TGGTTCACCAGCC	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.98T>G	6.37:g.144416537A>C	ENSP00000356541:p.Val33Gly		Somatic	96	0.1875	18		RNA-Seq	Illumina HiSeq		94	0.22	21	NM_031287	652	0.16	107	B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563239	0.86335	.	.	ENSG00000169976	ENST00000367569	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	.	.	.	0.80722	D	1	B	0.29805	0.257	B	0.38378	0.272	T	0.60316	-0.7287	8	0.62326	D	0.03	.	16.2827	0.82703	1.0:0.0:0.0:0.0	.	33	Q9BWJ5	SF3B5_HUMAN	G	33	.	ENSP00000356541:V33G	V	-	2	0	SF3B5	144458230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.458000	0.80787	2.324000	0.78689	0.533000	0.62120	GTG			0.587	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042537.1		NM_031287	
AKAP12	9590	mdanderson.org	37	6	151673962	151673962	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:151673962G>T	ENST00000253332.1	+	3	4625	c.4436G>T	c.(4435-4437)tGt>tTt	p.C1479F	AKAP12_ENST00000354675.6_Missense_Mutation_p.C1381F|AKAP12_ENST00000359755.5_Missense_Mutation_p.C1374F|AKAP12_ENST00000402676.2_Missense_Mutation_p.C1479F			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1479					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGGCCCGACTGTCAGGCAAAA	0.483																																					p.C1479F	Melanoma(141;1616 1805 10049 24534 51979)												.	.			0			c.G4436T												66.0	70.0	69.0					6																	151673962		2203	4300	6503	SO:0001583	missense	9590	exon4			CCGACTGTCAGGC	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4436G>T	6.37:g.151673962G>T	ENSP00000253332:p.Cys1479Phe		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_005100	143	0.00	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833481	0.16820	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06849	3.25;3.25;3.26;3.26	5.0	4.14	0.48551	.	1.337960	0.05448	N	0.548852	T	0.01558	0.0050	N	0.08118	0	0.19575	N	0.999966	B;B;B	0.17465	0.021;0.021;0.022	B;B;B	0.09377	0.004;0.004;0.002	T	0.44128	-0.9348	10	0.59425	D	0.04	.	5.2441	0.15487	0.1277:0.4268:0.367:0.0784	.	1374;1381;1479	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	F	1479;1479;1381;1374	ENSP00000384537:C1479F;ENSP00000253332:C1479F;ENSP00000346702:C1381F;ENSP00000352794:C1374F	ENSP00000253332:C1479F	C	+	2	0	AKAP12	151715655	0.001000	0.12720	0.464000	0.27143	0.003000	0.03518	0.364000	0.20325	1.240000	0.43803	-0.171000	0.13296	TGT			0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042712.1			
UNC93A	54346	ucsc.edu	37	6	167728900	167728901	+	Missense_Mutation	DNP	TC	TC	CG			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr6:167728900_167728901TC>CG	ENST00000230256.3	+	8	1509_1510	c.1334_1335TC>CG	c.(1333-1335)gTC>gCG	p.V445A	UNC93A_ENST00000366829.2_Missense_Mutation_p.V403A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	445			V -> A. {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V445A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAGGACAGGTCAACCAGGCAG	0.525																																					p.V445A													UNC93A,ear,carcinoma,+1,2	UNC93A	66	2	1	Substitution - Missense(1)	skin(1)	c.C1335G																																									SO:0001583	missense	54346	exon8			GACAGGTCAACCA	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	Exception_encountered	6.37:g.167728900_167728901delinsCG	ENSP00000230256:p.Val445Ala		Somatic	69	0.115942029	8		WXS	Illumina HiSeq		43	0.12	5	NM_018974	3	0.00	0	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	DNP	ENST00000230256.3	37	CCDS5300.1																																																																																					0.525	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043125.2		NM_018974	
NACAD	23148	broad.mit.edu	37	7	45123805	45123805	+	Silent	SNP	C	C	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:45123805C>T	ENST00000490531.2	-	2	1993	c.1974G>A	c.(1972-1974)aaG>aaA	p.K658K		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	658					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CAGCCACAGGCTTTGGGGCTG	0.607																																					p.K658K													.	NACAD	44		0			c.G1974A												2.0	3.0	2.0					7																	45123805		353	1190	1543	SO:0001819	synonymous_variant	23148	exon2			CACAGGCTTTGGG	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1974G>A	7.37:g.45123805C>T			Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	8	0.50	4	NM_001146334	20	0.15	3		Silent	SNP	ENST00000490531.2	37	CCDS47582.1																																																																																					0.607	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353652.2		NM_001146334	
CDK14	5218	mdanderson.org	37	7	90741978	90741978	+	Silent	SNP	C	C	T	rs200612683		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:90741978C>T	ENST00000380050.3	+	13	1407	c.1276C>T	c.(1276-1278)Cta>Tta	p.L426L	CDK14_ENST00000265741.3_Silent_p.L408L|CDK14_ENST00000436577.2_Silent_p.L297L|CDK14_ENST00000406263.1_Silent_p.L380L			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	426					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCGCCACGGCTATGGGAACT	0.498																																					p.L408L	GBM(83;1228 1256 8311 16577 31299)												.	.			0			c.C1222T												72.0	63.0	66.0					7																	90741978		2203	4300	6503	SO:0001819	synonymous_variant	5218	exon12			CCACGGCTATGGG		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1276C>T	7.37:g.90741978C>T			Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_012395	11	0.00	0	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37																																																																																						0.498	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000059970.5		NM_012395	
TRIP6	7205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	7	100466178	100466178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:100466178C>A	ENST00000200457.4	+	4	785	c.425C>A	c.(424-426)tCg>tAg	p.S142*		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	142					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATCCAGCCTCGCCGCTCCCA	0.657																																					p.S142X													.	.			0			c.C425A												35.0	40.0	38.0					7																	100466178		2150	4218	6368	SO:0001587	stop_gained	7205	exon4			CAGCCTCGCCGCT	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.425C>A	7.37:g.100466178C>A	ENSP00000200457:p.Ser142*		Somatic	54	0	0		WXS	Illumina HiSeq	.	65	0.29	19	NM_003302	184	0.07	12	A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Nonsense_Mutation	SNP	ENST00000200457.4	37	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293669	0.80914	.	.	ENSG00000087077	ENST00000200457	.	.	.	4.29	1.09	0.20402	.	1024.330000	0.00958	U	0.003077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0784	0.09914	0.4257:0.445:0.0:0.1293	.	.	.	.	X	142	.	ENSP00000200457:S142X	S	+	2	0	TRIP6	100304114	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.162000	0.16501	-0.119000	0.11830	-0.521000	0.04368	TCG			0.657	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347151.2		NM_003302	
RELN	5649	mdanderson.org	37	7	103191524	103191524	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:103191524G>T	ENST00000428762.1	-	41	6451	c.6292C>A	c.(6292-6294)Cac>Aac	p.H2098N	RELN_ENST00000424685.2_Missense_Mutation_p.H2098N|RELN_ENST00000343529.5_Missense_Mutation_p.H2098N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2098					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACAAAGGTGCAGCTTCCCA	0.537																																					p.H2098N	NSCLC(146;835 1944 15585 22231 52158)												.	.			0			c.C6292A												52.0	39.0	43.0					7																	103191524		2203	4300	6503	SO:0001583	missense	5649	exon41			AAAGGTGCAGCTT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6292C>A	7.37:g.103191524G>T	ENSP00000392423:p.His2098Asn		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_005045	0		0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539115	0.45176	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.87	5.87	0.94306	Neuraminidase (1);	0.100772	0.64402	D	0.000001	T	0.16300	0.0392	N	0.14661	0.345	0.80722	D	1	B;B	0.20164	0.041;0.042	B;B	0.24974	0.057;0.026	T	0.12344	-1.0551	10	0.19590	T	0.45	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	2098;2098	P78509-2;P78509	.;RELN_HUMAN	N	2098	ENSP00000392423:H2098N;ENSP00000345694:H2098N;ENSP00000388446:H2098N	ENSP00000345694:H2098N	H	-	1	0	RELN	102978760	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.081000	0.94049	2.775000	0.95449	0.650000	0.86243	CAC			0.537	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000348148.1		NM_005045	
PUS7	54517	ucsc.edu	37	7	105098245	105098245	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:105098245G>A	ENST00000356362.2	-	16	2192	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	PUS7_ENST00000469408.1_Missense_Mutation_p.L660F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	660					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GCTCAGCGAAGCCAGGTTGTA	0.448																																					p.L660F	Colon(138;2387 3051 17860)												.	PUS7	59		0			c.C1978T												253.0	230.0	238.0					7																	105098245		2203	4300	6503	SO:0001583	missense	54517	exon16			AGCGAAGCCAGGT	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1978C>T	7.37:g.105098245G>A	ENSP00000348722:p.Leu660Phe		Somatic	78	0	0		RNA-Seq	Illumina HiSeq		73	0.01	1	NM_019042	31	0.13	4	Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486549	0.44249	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.51817	0.69;0.69	5.86	4.03	0.46877	.	0.191930	0.46442	N	0.000286	T	0.34600	0.0903	L	0.31294	0.92	0.50313	D	0.999865	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.17440	-1.0369	10	0.46703	T	0.11	-6.5191	10.3137	0.43723	0.2128:0.0:0.7872:0.0	.	660;660	B3KY42;Q96PZ0	.;PUS7_HUMAN	F	660	ENSP00000348722:L660F;ENSP00000417402:L660F	ENSP00000348722:L660F	L	-	1	0	PUS7	104885481	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.325000	0.43840	1.617000	0.50277	0.650000	0.86243	CTT			0.448	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348681.1		NM_019042	
KMT2C	58508	bcgsc.ca;mdanderson.org	37	7	151962128	151962128	+	Silent	SNP	G	G	A	rs563740265		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr7:151962128G>A	ENST00000262189.6	-	8	1397	c.1179C>T	c.(1177-1179)aaC>aaT	p.N393N	KMT2C_ENST00000355193.2_Silent_p.N393N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	393					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N393K(4)									CTTACTTGCAGTTCTGGCACA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		31057	0.0		0.001	False		,,,				2504	0.0				p.N393N													.	MLL3	1564		4	Substitution - Missense(4)	lung(4)	c.C1179T												198.0	184.0	189.0					7																	151962128		2203	4297	6500	SO:0001819	synonymous_variant	58508	exon8			CTTGCAGTTCTGG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1179C>T	7.37:g.151962128G>A			Somatic	103	0.0194174757	2		WXS	Illumina HiSeq	Phase_1	103	0.07	7	NM_170606	3	0.00	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																					0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3			
CSMD1	64478	hgsc.bcm.edu	37	8	3226879	3226879	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:3226879G>T	ENST00000520002.1	-	20	3354	c.2799C>A	c.(2797-2799)ggC>ggA	p.G933G	CSMD1_ENST00000602723.1_Silent_p.G933G|CSMD1_ENST00000400186.3_Silent_p.G933G|CSMD1_ENST00000542608.1_Silent_p.G932G|CSMD1_ENST00000539096.1_Silent_p.G932G|CSMD1_ENST00000602557.1_Silent_p.G933G|CSMD1_ENST00000537824.1_Silent_p.G932G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	933	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)		CTTGGATGTAGCCTCCACATA	0.398																																					p.G932G													.	.			0			c.C2796A												59.0	55.0	56.0					8																	3226879		1843	4090	5933	SO:0001819	synonymous_variant	64478	exon19			GATGTAGCCTCCA			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.2799C>A	8.37:g.3226879G>T			Somatic	75	0	0		WXS	Illumina HiSeq	.	106	0.05	5	NM_033225	0		0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	1.421	-0.572935	0.03882	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.2	1.34	0.21922	.	.	.	.	.	T	0.45597	0.1350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24977	-1.0145	4	.	.	.	.	3.4073	0.07345	0.3602:0.0:0.3108:0.329	.	.	.	.	I	413	.	.	L	-	1	2	CSMD1	3214286	0.070000	0.21116	1.000000	0.80357	0.218000	0.24690	-0.753000	0.04792	0.180000	0.19960	0.563000	0.77884	CTA			0.398	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000374500.2		NM_033225	
EYA1	2138	mdanderson.org	37	8	72111599	72111599	+	Missense_Mutation	SNP	A	A	T	rs10103397	byFrequency	TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:72111599A>T	ENST00000340726.3	-	18	2394	c.1755T>A	c.(1753-1755)caT>caA	p.H585Q	EYA1_ENST00000303824.7_Missense_Mutation_p.H579Q|EYA1_ENST00000388741.2_Missense_Mutation_p.H551Q|EYA1_ENST00000388742.4_Missense_Mutation_p.H585Q|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000388740.3_Missense_Mutation_p.H552Q|EYA1_ENST00000388743.2_Missense_Mutation_p.H584Q|EYA1_ENST00000419131.1_Missense_Mutation_p.H550Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	585					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTTCCAAGGCATGGTGCAGGG	0.607																																					p.H585Q													.	.			0			c.T1755A												88.0	65.0	73.0					8																	72111599		2203	4300	6503	SO:0001583	missense	2138	exon18			CAAGGCATGGTGC	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1755T>A	8.37:g.72111599A>T	ENSP00000342626:p.His585Gln		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_000503	4	0.00	0	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126329	0.06795	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	6.16	-12.3	0.00002	EYA (1);	0.047268	0.85682	N	0.000000	T	0.78375	0.4273	N	0.03209	-0.39	0.25763	P	0.9849291	D;B;B;D;B	0.89917	1.0;0.034;0.074;0.998;0.013	D;B;B;D;B	0.83275	0.996;0.023;0.034;0.985;0.03	D	0.83844	0.0259	9	0.08179	T	0.78	-18.899	12.2437	0.54558	0.336:0.0644:0.5361:0.0635	.	579;512;552;585;550	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Q	585;585;553;552;579;551;584;550	ENSP00000373394:H585Q;ENSP00000342626:H585Q;ENSP00000373392:H552Q;ENSP00000303221:H579Q;ENSP00000373393:H551Q;ENSP00000373395:H584Q;ENSP00000410176:H550Q	ENSP00000303221:H579Q	H	-	3	2	EYA1	72274153	0.095000	0.21747	0.011000	0.14972	0.876000	0.50452	-0.437000	0.06914	-4.022000	0.00081	-0.748000	0.03510	CAT			0.607	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313788.2		NM_000503, NM_172060	
COL22A1	169044	mdanderson.org	37	8	139712365	139712365	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:139712365G>T	ENST00000303045.6	-	32	3028	c.2582C>A	c.(2581-2583)cCa>cAa	p.P861Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P861Q|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	861	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCATCCGTGGATGTGGTGT	0.552										HNSCC(7;0.00092)																											p.P861Q													.	.			0			c.C2582A												85.0	75.0	79.0					8																	139712365		2203	4300	6503	SO:0001583	missense	169044	exon32			ATCCGTGGATGTG	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2582C>A	8.37:g.139712365G>T	ENSP00000303153:p.Pro861Gln		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	13	0.15	2	NM_152888	3	0.00	0	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661073	0.29515	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96716	-4.1;-4.1	4.15	4.15	0.48705	.	0.300939	0.23121	U	0.051690	D	0.97564	0.9202	M	0.80422	2.495	0.41494	D	0.988244	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.993	D	0.96178	0.9128	10	0.26408	T	0.33	.	12.2343	0.54505	0.0:0.0:1.0:0.0	.	861;861	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	Q	861;861;574	ENSP00000303153:P861Q;ENSP00000387655:P861Q	ENSP00000303153:P861Q	P	-	2	0	COL22A1	139781547	0.990000	0.36364	0.913000	0.36048	0.289000	0.27227	3.991000	0.56973	2.589000	0.87451	0.563000	0.77884	CCA			0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000315905.2		XM_291257	
PYCRL	65263	mdanderson.org	37	8	144687882	144687882	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:144687882G>T	ENST00000220966.6	-	6	878	c.849C>A	c.(847-849)ctC>ctA	p.L283L	PYCRL_ENST00000495276.1_5'UTR|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000377579.3_Silent_p.L134L	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	271					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	ACTTTCTGCTGAGCTCCTTGG	0.677																																					p.L283L													.	.			0			c.C849A												27.0	30.0	29.0					8																	144687882		2202	4299	6501	SO:0001819	synonymous_variant	65263	exon6			TCTGCTGAGCTCC	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.849C>A	8.37:g.144687882G>T			Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_023078	17	0.00	0	B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	CCDS6407.2																																																																																					0.677	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347081.2		NM_023078	
ADCK5	203054	mdanderson.org	37	8	145617338	145617338	+	Silent	SNP	G	G	T			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr8:145617338G>T	ENST00000308860.6	+	11	1187	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	381	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGTGCTGCTGGACCACGGGC	0.687																																					p.L381L													.	.			0			c.G1143T												24.0	25.0	25.0					8																	145617338		2186	4296	6482	SO:0001819	synonymous_variant	203054	exon11			GCTGCTGGACCAC	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1143G>T	8.37:g.145617338G>T			Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_174922	26	0.00	0	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP	ENST00000308860.6	37	CCDS34965.1																																																																																					0.687	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382556.2		NM_174922	
Unknown	0	bcgsc.ca	37	9	90805040	90805040	+	IGR	SNP	C	C	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr9:90805040C>A								U6 (191790 upstream) : U3 (184143 downstream)																							ATATGTGATCCTCAGTAACAA	0.403																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			GTGATCCTCAGTA																													9.37:g.90805040C>A			Somatic	28	0	0		WXS	Illumina HiSeq	Phase_1	27	0.15	4	.	0		0		RNA	SNP		37																																																																																					0	0.403										
DAB2IP	153090	mdanderson.org	37	9	124535377	124535377	+	Missense_Mutation	SNP	T	T	A	rs528379635		TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr9:124535377T>A	ENST00000408936.3	+	12	2752	c.2570T>A	c.(2569-2571)cTg>cAg	p.L857Q	DAB2IP_ENST00000309989.1_Missense_Mutation_p.L733Q|DAB2IP_ENST00000259371.2_Missense_Mutation_p.L829Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	857	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CACAGCTCCCTGAGCTCACAC	0.672																																					p.L829Q													.	.			0			c.T2486A												20.0	20.0	20.0					9																	124535377		2201	4295	6496	SO:0001583	missense	153090	exon12			GCTCCCTGAGCTC	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2570T>A	9.37:g.124535377T>A	ENSP00000386183:p.Leu857Gln		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_032552	12	0.00	0	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37		.	.	.	.	.	.	.	.	.	.	T	19.99	3.927926	0.73327	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.77	4.77	0.60923	.	0.337560	0.28230	N	0.016103	T	0.20820	0.0501	L	0.47716	1.5	0.52099	D	0.999946	D;D	0.55385	0.971;0.964	P;P	0.58331	0.837;0.782	T	0.01256	-1.1404	10	0.29301	T	0.29	.	13.7737	0.63039	0.0:0.0:0.0:1.0	.	857;829	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	Q	829;857;766;733	ENSP00000259371:L829Q;ENSP00000386183:L857Q;ENSP00000362887:L766Q;ENSP00000310827:L733Q	ENSP00000259371:L829Q	L	+	2	0	DAB2IP	123575198	0.745000	0.28261	1.000000	0.80357	0.972000	0.66771	1.084000	0.30828	1.920000	0.55613	0.260000	0.18958	CTG			0.672	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317857.1		NM_032552	
CEL	1056	hgsc.bcm.edu	37	9	135947115	135947116	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr9:135947115_135947116CA>TG	ENST00000372080.4	+	11	2251_2252	c.2235_2236CA>TG	c.(2233-2238)tcCAag>tcTGag	p.K746E	CEL_ENST00000351304.7_Missense_Mutation_p.K677E	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	743					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGATGACTCCAAGGAAGCTCA	0.658																																					p.K746E													.	.			0			c.A2236G																																									SO:0001583	missense	1056	exon11			TGACTCCAAGGAA	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	Exception_encountered	9.37:g.135947115_135947116delinsTG	ENSP00000361151:p.Lys746Glu		Somatic	53	0	0		WXS	Illumina HiSeq	.	73	0.15	11	NM_001807	8	0.00	0	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	DNP	ENST00000372080.4	37	CCDS43896.1																																																																																					0.658	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054823.1			
DBH	1621	mdanderson.org	37	9	136501645	136501645	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr9:136501645T>C	ENST00000393056.2	+	1	164	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	51					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCTATCACATCCCCCTGGAC	0.642																																					p.I51T													.	.			0			c.T152C												35.0	34.0	34.0					9																	136501645		2203	4300	6503	SO:0001583	missense	1621	exon1			ATCACATCCCCCT	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.152T>C	9.37:g.136501645T>C	ENSP00000376776:p.Ile51Thr		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	47	0.09	4	NM_000787	0		0	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	T	7.901	0.734309	0.15574	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.48201	0.82;0.95	5.59	5.59	0.84812	.	0.549745	0.19163	N	0.121122	T	0.51024	0.1650	M	0.73598	2.24	0.09310	N	1	B	0.32573	0.376	B	0.32289	0.143	T	0.50866	-0.8777	10	0.44086	T	0.13	-31.5769	15.7557	0.78021	0.0:0.0:0.0:1.0	.	51	P09172	DOPO_HUMAN	T	51;37;37	ENSP00000376776:I51T;ENSP00000263611:I37T	ENSP00000263611:I37T	I	+	2	0	DBH	135491466	0.979000	0.34478	0.428000	0.26697	0.013000	0.08279	5.796000	0.69080	2.135000	0.66039	0.459000	0.35465	ATC			0.642	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054929.2		NM_000787	
IRAK1	3654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153278098	153278098	+	Silent	SNP	C	C	G			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chrX:153278098C>G	ENST00000369980.3	-	13	2129	c.1962G>C	c.(1960-1962)tcG>tcC	p.S654S	IRAK1_ENST00000429936.2_Silent_p.S650S|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Silent_p.S624S|IRAK1_ENST00000393682.1_Silent_p.S635S|IRAK1_ENST00000369974.2_Silent_p.S575S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	654	Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCTCTGACGACGATGATG	0.627																																					p.S654S													.	.			0			c.G1962C												113.0	86.0	95.0					X																	153278098		2203	4300	6503	SO:0001819	synonymous_variant	3654	exon13			CTCTGACGACGAT	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1962G>C	X.37:g.153278098C>G			Somatic	74	0	0		WXS	Illumina HiSeq	.	89	0.26	23	NM_001569	122	0.22	27	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	C	5.895	0.349281	0.11182	.	.	ENSG00000184216	ENST00000455690;ENST00000437278	T	0.24538	1.85	4.45	-8.89	0.00785	.	.	.	.	.	T	0.19208	0.0461	.	.	.	0.29019	N	0.886429	.	.	.	.	.	.	T	0.33059	-0.9883	5	.	.	.	-2.2946	12.0278	0.53382	0.0:0.5208:0.3347:0.1445	.	.	.	.	P	104;218	ENSP00000411809:R104P	.	R	-	2	0	IRAK1	152931292	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.331000	0.00509	-3.770000	0.00109	-2.479000	0.00199	CGT			0.627	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000061143.3			
PLCD3	113026	mdanderson.org	37	17	43195379	43195379	+	Silent	SNP	C	C	A			TCGA-2G-AAGF-01A-31D-A42Y-10	TCGA-2G-AAGF-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e4da33-fde9-4047-a136-495d4b15ab5e	f883c62a-90a5-4801-a223-3315d37bc801	g.chr17:43195379C>A	ENST00000322765.5	-	7	1355	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	414	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CATGGTCGCGCACGGCTTGGA	0.652																																					.													.	.			0			.												32.0	40.0	37.0					17																	43195379		2137	4241	6378	SO:0001819	synonymous_variant	113026	.			GTCGCGCACGGCT	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1242G>T	17.37:g.43195379C>A			Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	.	46	0.00	0	Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37																																																																																						0.652	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_133373	
