#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
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																					.													.	.			0			.																																									SO:0001630	splice_region_variant	55672	.			AACTTACTGTTGT	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T			Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	.	0		0	Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000106436.3		NM_017940	Intron
SZT2	23334	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	43868935	43868935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:43868935delC	ENST00000562955.1	+	2	115	c.115delC	c.(115-117)ctgfs	p.L39fs	SZT2_ENST00000310739.4_Frame_Shift_Del_p.L39fs|SZT2_ENST00000372450.4_Frame_Shift_Del_p.L39fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	39					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTCAGTCATCTGCACCAAAC	0.512																																					p.H38fs													.	SZT2	383		0			c.114delT												85.0	79.0	81.0					1																	43868935		2203	4300	6503	SO:0001589	frameshift_variant	23334	exon2			AGTCATCTGCACC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.115delC	1.37:g.43868935delC	ENSP00000457168:p.Leu39fs		Somatic	117	0	0		WXS	Illumina HiSeq	.	108	0.17	18	NM_015284	12	0.00	0	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	CCDS30694.2																																																																																					0.512	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019517.3		NM_015284	
FAF1	11124	mdanderson.org	37	1	51171496	51171496	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:51171496A>G	ENST00000396153.2	-	7	1070	c.619T>C	c.(619-621)Tac>Cac	p.Y207H	FAF1_ENST00000371778.4_Missense_Mutation_p.Y207H	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	207					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTCAGGTTGTACTCCCGCTGG	0.428																																					p.Y207H													.	.			2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)	c.T619C												135.0	123.0	127.0					1																	51171496		2203	4300	6503	SO:0001583	missense	11124	exon7			GGTTGTACTCCCG	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.619T>C	1.37:g.51171496A>G	ENSP00000379457:p.Tyr207His		Somatic	81	0.012345679	1		WXS	Illumina HiSeq	Phase_I	57	0.05	3	NM_007051	158	0.01	1	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	CCDS554.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957693	0.73902	.	.	ENSG00000185104	ENST00000396153;ENST00000371778	T;T	0.32023	1.47;1.47	5.66	5.66	0.87406	.	0.061588	0.64402	D	0.000002	T	0.25568	0.0622	L	0.37630	1.12	0.80722	D	1	B	0.26120	0.142	B	0.15870	0.014	T	0.03068	-1.1076	10	0.27785	T	0.31	-18.6126	15.897	0.79341	1.0:0.0:0.0:0.0	.	207	Q9UNN5	FAF1_HUMAN	H	207	ENSP00000379457:Y207H;ENSP00000360843:Y207H	ENSP00000360843:Y207H	Y	-	1	0	FAF1	50944084	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.145000	0.66743	0.528000	0.53228	TAC			0.428	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021807.1		NM_007051	
PTPN22	26191	mdanderson.org	37	1	114391245	114391245	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:114391245G>T	ENST00000359785.5	-	11	967	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	PTPN22_ENST00000525799.1_Missense_Mutation_p.Q151K|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q278K|PTPN22_ENST00000538253.1_Missense_Mutation_p.Q34K	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	278	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTCATATTGTTCCTGAAGA	0.338																																					p.Q278K													.	.			0			c.C832A												116.0	128.0	124.0					1																	114391245		2202	4300	6502	SO:0001583	missense	26191	exon11			CATATTGTTCCTG	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.832C>A	1.37:g.114391245G>T	ENSP00000352833:p.Gln278Lys		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	34	0.09	3	NM_001193431	14	0.00	0	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581345	0.86748	.	.	ENSG00000134242	ENST00000359785;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	D;T;D;T	0.88201	-2.35;0.73;-2.35;1.63	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.991;0.997;1.0;0.999;1.0	D	0.97718	1.0195	10	0.87932	D	0	.	18.6546	0.91448	0.0:0.0:1.0:0.0	.	34;151;278;278;278	F5H2S8;E9PPI1;E9PMT0;G5E984;Q9Y2R2	.;.;.;.;PTN22_HUMAN	K	278;34;278;151;278	ENSP00000352833:Q278K;ENSP00000439372:Q34K;ENSP00000388229:Q278K;ENSP00000432674:Q151K	ENSP00000346621:Q278K	Q	-	1	0	PTPN22	114192768	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.536000	0.82023	2.705000	0.92388	0.655000	0.94253	CAA			0.338	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033015.1		NM_015967	
DNM3	26052	mdanderson.org	37	1	171810899	171810899	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr1:171810899G>A	ENST00000355305.5	+	1	260	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	DNM3_ENST00000358155.4_Missense_Mutation_p.A35T|DNM3_ENST00000367731.1_Missense_Mutation_p.A35T|DNM3_ENST00000520906.1_Missense_Mutation_p.A35T|DNM3_ENST00000367733.2_Missense_Mutation_p.A35T			Q9UQ16	DYN3_HUMAN	dynamin 3	35	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCCGCAGATCGCCGTGGTGGG	0.687																																					p.A35T													.	.			0			c.G103A												15.0	22.0	20.0					1																	171810899		2190	4295	6485	SO:0001583	missense	26052	exon1			CAGATCGCCGTGG	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.103G>A	1.37:g.171810899G>A	ENSP00000347457:p.Ala35Thr		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_015569	2	0.00	0	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	G	35	5.416865	0.96092	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	M	0.81341	2.54	0.80722	D	1	P;D;D;P	0.54207	0.951;0.965;0.965;0.944	B;P;P;B	0.44647	0.395;0.456;0.456;0.395	D	0.95236	0.8347	10	0.62326	D	0.03	.	14.2996	0.66336	0.0:0.0:1.0:0.0	.	35;35;35;35	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	T	35	ENSP00000350876:A35T;ENSP00000356707:A35T;ENSP00000347457:A35T;ENSP00000356705:A35T;ENSP00000429701:A35T	ENSP00000347457:A35T	A	+	1	0	DNM3	170077522	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.326000	0.90010	1.997000	0.58415	0.591000	0.81541	GCC			0.687	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000084531.1		NM_015569	
ADARB2	105	hgsc.bcm.edu	37	10	1578005	1578005	+	Intron	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr10:1578005C>T	ENST00000381312.1	-	2	426				ADARB2-AS1_ENST00000381301.3_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCCTGAGTTCCCTTGCCCCG	0.622																																					.													.	.			0			.																																									SO:0001627	intron_variant	642394	.			TGAGTTCCCTTGC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-156650G>A	10.37:g.1578005C>T			Somatic	106	0	0		WXS	Illumina HiSeq	.	123	0.05	6	.	0		0	B2RPJ5|Q5VUT6|Q5VW42	RNA	SNP	ENST00000381312.1	37	CCDS7058.1																																																																																					0.622	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046426.1		NM_018702	
ITIH5	80760	mdanderson.org	37	10	7614301	7614301	+	Missense_Mutation	SNP	C	C	T	rs141124086		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr10:7614301C>T	ENST00000397145.2	-	12	2198	c.2093G>A	c.(2092-2094)aGc>aAc	p.S698N	ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	0					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCCAGGATGCTGGCAAAAGG	0.388																																					p.S698N													.	.			0			c.G2093A												85.0	82.0	83.0					10																	7614301		1828	4084	5912	SO:0001583	missense	80760	exon12			AGGATGCTGGCAA			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000397145.2:c.2093G>A	10.37:g.7614301C>T	ENSP00000380332:p.Ser698Asn		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001001851	0		0	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000397145.2	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.441	1.088156	0.20390	.	.	ENSG00000123243	ENST00000397145	T	0.02682	4.2	4.93	-6.99	0.01605	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48445	-0.9035	9	0.54805	T	0.06	.	4.359	0.11192	0.1109:0.2095:0.1093:0.5703	.	698	G5E9D8	.	N	698	ENSP00000380332:S698N	ENSP00000380332:S698N	S	-	2	0	ITIH5	7654307	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.312000	0.02720	-1.442000	0.01955	-1.058000	0.02302	AGC	0		0.388	ITIH5-201	KNOWN	basic	protein_coding	protein_coding				NM_030569	
ZFYVE27	118813	broad.mit.edu	37	10	99498419	99498419	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr10:99498419G>A	ENST00000393677.4	+	2	389	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.R62Q|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R62Q	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	62	Necessary for interaction with RAB11A and function in neurite outgrowth.				cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GATGGTGTTCGATACTTGCTC	0.507																																					p.R62Q													.	ZFYVE27	31		0			c.G185A												122.0	121.0	121.0					10																	99498419		2203	4300	6503	SO:0001583	missense	118813	exon1			GTGTTCGATACTT	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.185G>A	10.37:g.99498419G>A	ENSP00000377282:p.Arg62Gln		Somatic	135	0	0		WXS	Illumina HiSeq	Phase_I	109	0.04	4	NM_001002261	20	0.00	0	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503434	0.64298	.	.	ENSG00000155256	ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T	0.35789	1.31;1.31;1.29;1.3;1.31	5.04	4.04	0.47022	.	0.216532	0.39687	N	0.001300	T	0.32763	0.0840	L	0.29908	0.895	0.80722	D	1	P;P;P;D;P	0.61697	0.892;0.935;0.935;0.99;0.892	B;B;B;P;B	0.49665	0.197;0.36;0.36;0.618;0.197	T	0.08932	-1.0698	10	0.72032	D	0.01	-7.4622	9.5053	0.39042	0.0822:0.0:0.7641:0.1537	.	62;62;62;62;62	B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;ZFY27_HUMAN	Q	62;62;62;62;62;62;40	ENSP00000377282:R62Q;ENSP00000401580:R62Q;ENSP00000353069:R62Q;ENSP00000348593:R62Q;ENSP00000409594:R40Q	ENSP00000348593:R62Q	R	+	2	0	ZFYVE27	99488409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.749000	0.47492	2.331000	0.79229	0.561000	0.74099	CGA			0.507	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000049745.2		NM_144588	
MUC2	4583	mdanderson.org	37	11	1082661	1082661	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:1082661G>A	ENST00000441003.2	+	15	1937	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	MUC2_ENST00000359061.5_Missense_Mutation_p.R637H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	637					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCTACGCGCGCGCCTGCACC	0.657																																					p.R637H													.	.			0			c.G1910A												35.0	41.0	39.0					11																	1082661		2115	4231	6346	SO:0001583	missense	4583	exon15			ACGCGCGCGCCTG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1910G>A	11.37:g.1082661G>A	ENSP00000415183:p.Arg637His		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	g	7.882	0.730429	0.15507	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.77750	-1.12;-1.12	4.3	-4.21	0.03812	.	1.110310	0.07007	N	0.824423	T	0.62913	0.2467	L	0.35487	1.065	0.09310	N	1	P	0.38195	0.622	B	0.41691	0.364	T	0.52170	-0.8611	10	0.07644	T	0.81	.	6.6315	0.22859	0.4389:0.0:0.4506:0.1105	.	637	E7EUV1	.	H	637	ENSP00000415183:R637H;ENSP00000351956:R637H	ENSP00000351956:R637H	R	+	2	0	MUC2	1072661	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.195000	0.17155	-0.705000	0.05035	-1.220000	0.01600	CGC			0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
CTNND1	1500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	57576927	57576927	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:57576927C>G	ENST00000399050.4	+	15	2960	c.2424C>G	c.(2422-2424)atC>atG	p.I808M	CTNND1_ENST00000534579.1_Missense_Mutation_p.I748M|CTNND1_ENST00000532844.1_Missense_Mutation_p.I754M|CTNND1_ENST00000361796.4_Missense_Mutation_p.I802M|CTNND1_ENST00000358694.6_Missense_Mutation_p.I802M|CTNND1_ENST00000428599.2_Missense_Mutation_p.I802M|CTNND1_ENST00000524630.1_Missense_Mutation_p.I802M|CTNND1_ENST00000399039.4_Missense_Mutation_p.I808M|CTNND1_ENST00000530748.1_Missense_Mutation_p.I754M|CTNND1_ENST00000426142.2_Missense_Mutation_p.I701M|CTNND1_ENST00000525902.1_Missense_Mutation_p.I485M|CTNND1_ENST00000529919.1_Missense_Mutation_p.I808M|CTNND1_ENST00000415361.2_Missense_Mutation_p.I707M|CTNND1_ENST00000360682.6_Missense_Mutation_p.I808M|CTNND1_ENST00000526938.1_Missense_Mutation_p.I808M|CTNND1_ENST00000361332.4_Missense_Mutation_p.I802M|CTNND1_ENST00000532463.1_Missense_Mutation_p.I701M|CTNND1_ENST00000532245.1_Missense_Mutation_p.I701M|CTNND1_ENST00000526772.1_Missense_Mutation_p.I479M|CTNND1_ENST00000532787.1_Missense_Mutation_p.I701M|CTNND1_ENST00000529526.1_Missense_Mutation_p.I748M|CTNND1_ENST00000528621.1_Missense_Mutation_p.I748M|CTNND1_ENST00000529986.1_Missense_Mutation_p.I701M|CTNND1_ENST00000529873.1_Missense_Mutation_p.I748M|CTNND1_ENST00000533667.1_Missense_Mutation_p.I479M|CTNND1_ENST00000361391.6_Missense_Mutation_p.I802M|CTNND1_ENST00000528232.1_Missense_Mutation_p.I707M|CTNND1_ENST00000530094.1_Missense_Mutation_p.I701M|CTNND1_ENST00000532649.1_Missense_Mutation_p.I748M|CTNND1_ENST00000526357.1_Missense_Mutation_p.I748M|CTNND1_ENST00000527467.1_Missense_Mutation_p.I485M|CTNND1_ENST00000531014.1_Missense_Mutation_p.I479M	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	808					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGGTGTTGATCAACAAATCAG	0.403																																					p.I808M													.	.			0			c.C2424G												55.0	57.0	56.0					11																	57576927		1870	4101	5971	SO:0001583	missense	1500	exon15			GTTGATCAACAAA	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2424C>G	11.37:g.57576927C>G	ENSP00000382004:p.Ile808Met		Somatic	85	0	0		WXS	Illumina HiSeq	.	55	0.25	14	NM_001085458	136	0.46	63	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969558	0.74246	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.63428	1.95	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.994;0.997;0.997;0.997;0.991;0.997;0.994	T	0.66889	-0.5809	10	0.87932	D	0	-7.2885	12.7544	0.57325	0.0:0.9244:0.0:0.0756	.	808;802;808;701;748;748;802;808;808	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	M	802;808;808;808;802;748;701;808;802;802;701;701;802;701;479;748;748;754;802;485;707;479;479;748;485;754;748;701;707;701;748;808	ENSP00000436543:I802M;ENSP00000434808:I808M;ENSP00000381996:I808M;ENSP00000353902:I808M;ENSP00000354907:I802M;ENSP00000436323:I748M;ENSP00000409930:I701M;ENSP00000382004:I808M;ENSP00000354785:I802M;ENSP00000354823:I802M;ENSP00000432075:I701M;ENSP00000437156:I701M;ENSP00000351527:I802M;ENSP00000434949:I701M;ENSP00000437051:I479M;ENSP00000435379:I748M;ENSP00000432243:I748M;ENSP00000436744:I754M;ENSP00000413586:I802M;ENSP00000434900:I485M;ENSP00000435266:I707M;ENSP00000432623:I479M;ENSP00000433158:I479M;ENSP00000435494:I748M;ENSP00000434672:I485M;ENSP00000433276:I754M;ENSP00000433334:I748M;ENSP00000437327:I701M;ENSP00000403518:I707M;ENSP00000434017:I701M;ENSP00000435789:I748M;ENSP00000432041:I808M	ENSP00000351527:I802M	I	+	3	3	CTNND1	57333503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.470000	0.35354	2.692000	0.91855	0.655000	0.94253	ATC			0.403	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000393944.1		NM_001331	
VWCE	220001	mdanderson.org	37	11	61042028	61042028	+	Silent	SNP	G	G	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552																																					p.Y508Y													.	.			0			c.C1524T												197.0	125.0	149.0					11																	61042028		2203	4299	6502	SO:0001819	synonymous_variant	220001	exon12			GTCTGCGTACCAC	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1524C>T	11.37:g.61042028G>A			Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_152718	8	0.00	0	A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	CCDS8002.1																																																																																					0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398811.1		NM_152718	
LTBP3	4054	broad.mit.edu	37	11	65313978	65313978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:65313978delG	ENST00000301873.5	-	16	2556	c.2288delC	c.(2287-2289)ccgfs	p.P763fs	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.P763fs|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.P193fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.P389fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	763	Cys-rich.|EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGGAGCCCGGGAGGTTCTC	0.741																																					p.P763fs													.	LTBP3	55		0			c.2288delC												14.0	22.0	19.0					11																	65313978		2199	4289	6488	SO:0001589	frameshift_variant	4054	exon16			GAGCCCGGGAGGT	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2288delC	11.37:g.65313978delG	ENSP00000301873:p.Pro763fs		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	NM_001130144	13	0.00	0	O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Del	DEL	ENST00000301873.5	37	CCDS44647.1																																																																																					0.741	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390538.1		NM_021070	
PDE2A	5138	mdanderson.org	37	11	72288474	72288474	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:72288474C>G	ENST00000334456.5	-	31	3025	c.2780G>C	c.(2779-2781)gGc>gCc	p.G927A	PDE2A_ENST00000540345.1_Missense_Mutation_p.G918A|PDE2A_ENST00000376450.3_Missense_Mutation_p.G671A|PDE2A_ENST00000544570.1_Missense_Mutation_p.G920A|PDE2A_ENST00000444035.2_Missense_Mutation_p.G918A|PDE2A_ENST00000418754.2_Missense_Mutation_p.G812A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	927					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGCCCTAGTGCCATCCAGATC	0.607																																					p.G927A													PDE2A_ENST00000544570,NS,carcinoma,-1,3	PDE2A_ENST00000544570	-1	3	0			c.G2780C												105.0	87.0	93.0					11																	72288474		2200	4293	6493	SO:0001583	missense	5138	exon31			CTAGTGCCATCCA	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2780G>C	11.37:g.72288474C>G	ENSP00000334910:p.Gly927Ala		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_002599	52	0.00	0	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307684	0.40795	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000544570;ENST00000418754;ENST00000540345	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.13	2.2	0.27929	.	0.414201	0.24426	N	0.038639	T	0.52789	0.1756	N	0.14661	0.345	0.09310	N	0.999992	B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.003;0.002;0.001	B;B;B;B;B;B	0.09377	0.001;0.001;0.001;0.003;0.002;0.004	T	0.22034	-1.0228	10	0.14656	T	0.56	.	3.5718	0.07920	0.1755:0.565:0.1693:0.0903	.	812;927;918;920;927;671	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	A	927;671;918;920;812;918	ENSP00000334910:G927A;ENSP00000365633:G671A;ENSP00000411657:G918A;ENSP00000442256:G920A;ENSP00000410310:G812A;ENSP00000446399:G918A	ENSP00000334910:G927A	G	-	2	0	PDE2A	71966122	0.028000	0.19301	0.021000	0.16686	0.970000	0.65996	2.117000	0.41939	0.827000	0.34685	0.655000	0.94253	GGC			0.607	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219839.2		NM_002599	
TECTA	7007	ucsc.edu;bcgsc.ca	37	11	120996448	120996448	+	Silent	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr11:120996448G>T	ENST00000392793.1	+	8	1912	c.1641G>T	c.(1639-1641)gtG>gtT	p.V547V	TECTA_ENST00000264037.2_Silent_p.V547V			O75443	TECTA_HUMAN	tectorin alpha	547					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCTTTTGTGCACAGCTGCG	0.577																																					p.V547V													.	TECTA	329		0			c.G1641T												126.0	123.0	124.0					11																	120996448		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon7			TTTTGTGCACAGC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1641G>T	11.37:g.120996448G>T			Somatic	82	0	0		WXS	Illumina HiSeq		41	0.10	4	NM_005422	0		0		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																					0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422	
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	A	rs121913240		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr12:25380276T>A	ENST00000256078.4	-	3	245	c.182A>T	c.(181-183)cAa>cTa	p.Q61L	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61L|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.Q61L	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS_ENST00000256078,colon,carcinoma,+1,429	KRAS_ENST00000256078	1	429	141	Substitution - Missense(141)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)	c.A182T												109.0	97.0	101.0					12																	25380276		2203	4300	6503	SO:0001583	missense	3845	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	TCCTCTTGACCTG	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.182A>T	12.37:g.25380276T>A	ENSP00000256078:p.Gln61Leu		Somatic	124	0	0		WXS	Illumina HiSeq	.	132	0.14	19	NM_004985	108	0.14	15	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889058	0.91814	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83992	-1.79;-1.79	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.92097	0.7495	H	0.96333	3.805	0.80722	D	1	D;P	0.58970	0.984;0.812	P;P	0.53689	0.732;0.69	D	0.94295	0.7532	10	0.72032	D	0.01	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	L	61	ENSP00000308495:Q61L;ENSP00000256078:Q61L	ENSP00000256078:Q61L	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA			0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360	
AC079630.4	0	broad.mit.edu	37	12	40590305	40590306	+	RNA	DEL	AC	AC	-	rs71957089|rs146322884|rs56242732		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr12:40590305_40590306delAC	ENST00000412812.1	-	0	145																											gtgcatgCTTacacacacacac	0.475																																					.													.	.			0			.																																											0	.			ATGCTTACACACA																													12.37:g.40590315_40590316delAC			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	13	0.31	4	.	0		0		RNA	DEL	ENST00000412812.1	37																																																																																						0.475	AC079630.4-001	KNOWN	basic	antisense	antisense		OTTHUMT00000257956.1			
FAM186A	121006	broad.mit.edu	37	12	50746486	50746486	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr12:50746486T>G	ENST00000327337.5	-	4	4128	c.4129A>C	c.(4129-4131)Act>Cct	p.T1377P	FAM186A_ENST00000543111.1_Missense_Mutation_p.T1377P|FAM186A_ENST00000543096.1_5'Flank	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1377																	GCCTGCTGAGTGGTGAGAGGC	0.647																																					p.T1377P	NSCLC(138;1796 1887 12511 19463 37884)												FAM186A_ENST00000327337,NS,carcinoma,0,1	FAM186A	181	1	0			c.A4129C												15.0	19.0	18.0					12																	50746486		692	1591	2283	SO:0001583	missense	121006	exon4			GCTGAGTGGTGAG		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4129A>C	12.37:g.50746486T>G	ENSP00000329995:p.Thr1377Pro		Somatic	127	0.0157480315	2		WXS	Illumina HiSeq	Phase_I	204	0.05	11	NM_001145475	1	0.00	0		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	g	0.414	-0.911679	0.02434	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.04015	3.73;3.73	4.39	1.5	0.22942	.	.	.	.	.	T	0.01320	0.0043	N	0.01352	-0.895	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46527	-0.9185	9	0.02654	T	1	.	3.821	0.08836	0.3668:0.0:0.472:0.1612	.	1377;1377	F5GYN0;A6NE01	.;F186A_HUMAN	P	1377	ENSP00000441337:T1377P;ENSP00000329995:T1377P	ENSP00000329995:T1377P	T	-	1	0	FAM186A	49032753	0.000000	0.05858	0.001000	0.08648	0.193000	0.23685	0.352000	0.20113	-0.119000	0.11830	-0.323000	0.08544	ACT			0.647	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
PA2G4	5036	bcgsc.ca;mdanderson.org	37	12	56500421	56500421	+	Silent	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr12:56500421G>T	ENST00000303305.6	+	2	557	c.138G>T	c.(136-138)ctG>ctT	p.L46L	RP11-603J24.9_ENST00000548861.1_Silent_p.L27L|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.L46L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	46	Necessary for nucleolar localization.|RNA-binding.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			tgtcggtactgagcctgtgtg	0.418																																					p.L46L													.	PA2G4	24		0			c.G138T												82.0	76.0	78.0					12																	56500421		2201	4300	6501	SO:0001819	synonymous_variant	5036	exon2			GGTACTGAGCCTG	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.138G>T	12.37:g.56500421G>T			Somatic	53	0	0		WXS	Illumina HiSeq	Phase_1	76	0.07	5	NM_006191	814	0.00	0	O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	CCDS8902.1																																																																																					0.418	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407767.1		NM_006191	
LINC00621	100996930	broad.mit.edu	37	13	23471375	23471376	+	lincRNA	DEL	GA	GA	-			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr13:23471375_23471376delGA	ENST00000577004.1	-	0	652									long intergenic non-protein coding RNA 621																		gagaggagaggagagagagaga	0.431																																					.													.	.			0			.																																											0	.			GGAGAGGAGAGAG	AK091626		13q12.12	2012-10-12			ENSG00000262619	ENSG00000262619		"""Long non-coding RNAs"""	44227	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000177835		13.37:g.23471385_23471386delGA			Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	52	0.13	7	.	0		0		RNA	DEL	ENST00000577004.1	37																																																																																						0.431	LINC00621-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000439167.1			
ACIN1	22985	hgsc.bcm.edu;mdanderson.org	37	14	23549896	23549896	+	Silent	SNP	C	C	T	rs398102304		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr14:23549896C>T	ENST00000262710.1	-	6	1149	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ACIN1_ENST00000555053.1_Silent_p.E274E|ACIN1_ENST00000457657.1_Silent_p.E234E|ACIN1_ENST00000605057.1_Silent_p.E216E|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	274	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		cctcctcctcctcttcttcct	0.473																																					p.E274E													.	.			0			c.G822A												126.0	121.0	123.0					14																	23549896		2203	4300	6503	SO:0001819	synonymous_variant	22985	exon6			CTCCTCCTCTTCT	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.822G>A	14.37:g.23549896C>T			Somatic	95	0	0		WXS	Illumina HiSeq	.	93	0.04	4	NM_001164814	59	0.00	0	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																					0.473	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071707.3		NM_014977	
C14orf23	387978	mdanderson.org	37	14	29261443	29261443	+	Silent	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr14:29261443G>T	ENST00000399387.4	+	3	584	c.480G>T	c.(478-480)ctG>ctT	p.L160L	C14orf23_ENST00000548213.1_Intron|C14orf23_ENST00000550266.1_Intron					chromosome 14 open reading frame 23											central_nervous_system(1)	1						CCTTGCCTCTGGCTCCACAGG	0.443																																					.													.	.			0			.																																									SO:0001819	synonymous_variant	387978	.			GCCTCTGGCTCCA			14q11.2	2013-01-15			ENSG00000186960	ENSG00000186960			19828	other	unknown							Standard	NR_026731		Approved		uc001wqf.3	Q86U37	OTTHUMG00000029410	ENST00000399387.4:c.480G>T	14.37:g.29261443G>T			Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	.	0		0		RNA	SNP	ENST00000399387.4	37																																																																																						0.443	C14orf23-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000134019.2		NR_026731	
SIX6	4990	mdanderson.org	37	14	60976369	60976369	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr14:60976369G>A	ENST00000327720.5	+	1	701	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	85					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGAGTCGCACGCCAAGCTGCA	0.577																																					p.A85T													SIX6,colon,carcinoma,0,1	SIX6	0	1	0			c.G253A												43.0	44.0	44.0					14																	60976369		2203	4300	6503	SO:0001583	missense	4990	exon1			TCGCACGCCAAGC	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.253G>A	14.37:g.60976369G>A	ENSP00000328596:p.Ala85Thr		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	48	0.08	4	NM_007374	0		0	Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342073	0.41498	.	.	ENSG00000184302	ENST00000327720	D	0.97161	-4.27	5.52	4.62	0.57501	.	0.156038	0.64402	D	0.000018	D	0.92912	0.7745	L	0.31476	0.935	0.37365	D	0.911375	B	0.02656	0.0	B	0.04013	0.001	D	0.90535	0.4498	10	0.48119	T	0.1	.	8.5282	0.33317	0.0754:0.0:0.7703:0.1543	.	85	O95475	SIX6_HUMAN	T	85	ENSP00000328596:A85T	ENSP00000328596:A85T	A	+	1	0	SIX6	60046122	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.331000	0.43894	1.543000	0.49345	0.563000	0.77884	GCC			0.577	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276952.2			
SYNE2	23224	broad.mit.edu	37	14	64675556	64675556	+	Silent	SNP	C	C	A	rs201056822		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr14:64675556C>A	ENST00000344113.4	+	101	18494	c.18282C>A	c.(18280-18282)tcC>tcA	p.S6094S	SYNE2_ENST00000394768.2_Silent_p.S2479S|SYNE2_ENST00000554584.1_Silent_p.S6056S|SYNE2_ENST00000357395.3_Silent_p.S2479S|SYNE2_ENST00000358025.3_Silent_p.S6094S|SYNE2_ENST00000554805.1_5'Flank|SYNE2_ENST00000555022.1_5'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.S2728S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6094					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCACGACTCCGATGCCTGTG	0.532																																					p.S6094S													.	SYNE2	577		0			c.C18282A												121.0	94.0	103.0					14																	64675556		2203	4300	6503	SO:0001819	synonymous_variant	23224	exon101			CGACTCCGATGCC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18282C>A	14.37:g.64675556C>A			Somatic	105	0.0095238095	1		WXS	Illumina HiSeq	Phase_I	74	0.04	3	NM_182914	225	0.00	0	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																					0.532	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276994.2		NM_182914	
CILP	8483	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	65490079	65490079	+	Missense_Mutation	SNP	C	C	T	rs376060973	byFrequency	TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr15:65490079C>T	ENST00000261883.4	-	9	2711	c.2545G>A	c.(2545-2547)Gtc>Atc	p.V849I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	849					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCTGAGGGACGCCAATTGCA	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		20330	0.0		0.0	False		,,,				2504	0.002				p.V849I													.	CILP	124		0			c.G2545A							C	ILE/VAL	0,4402		0,0,2201	126.0	107.0	113.0		2545	5.5	1.0	15		113	1,8595	1.2+/-3.3	0,1,4297	no	missense	CILP	NM_003613.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	849/1185	65490079	1,12997	2201	4298	6499	SO:0001583	missense	8483	exon9			GAGGGACGCCAAT	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2545G>A	15.37:g.65490079C>T	ENSP00000261883:p.Val849Ile		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	29	0.14	4	NM_003613	10	0.10	1	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681005	0.29872	0.0	1.16E-4	ENSG00000138615	ENST00000261883	T	0.10763	2.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.17577	0.0422	M	0.65975	2.015	0.80722	D	1	D	0.60160	0.987	B	0.42916	0.402	T	0.01252	-1.1405	10	0.46703	T	0.11	-25.2129	18.7051	0.91635	0.0:1.0:0.0:0.0	.	849	O75339	CILP1_HUMAN	I	849	ENSP00000261883:V849I	ENSP00000261883:V849I	V	-	1	0	CILP	63277132	1.000000	0.71417	0.973000	0.42090	0.045000	0.14185	7.772000	0.85439	2.724000	0.93272	0.563000	0.77884	GTC			0.527	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256829.1		NM_003613	
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30749732	30749732	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr16:30749732C>A	ENST00000262518.4	+	34	8756	c.8371C>A	c.(8371-8373)Ccg>Acg	p.P2791T	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729T|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633T|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCGGGAAGCCCGTCTGTCCG	0.662																																					p.P2791T													SRCAP,NS,carcinoma,-1,1	SRCAP	-1	1	0			c.C8371A												55.0	62.0	60.0					16																	30749732		2197	4300	6497	SO:0001583	missense	10847	exon34			GGAAGCCCGTCTG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8371C>A	16.37:g.30749732C>A	ENSP00000262518:p.Pro2791Thr		Somatic	56	0	0		WXS	Illumina HiSeq	.	65	0.17	11	NM_006662	142	0.23	32	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	0.238	-1.015749	0.02078	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91124	-2.77;-2.79;-2.79	5.04	4.02	0.46733	.	0.266926	0.27122	N	0.020822	T	0.77745	0.4176	N	0.08118	0	0.23542	N	0.997456	B;B	0.15930	0.015;0.008	B;B	0.13407	0.009;0.004	T	0.65253	-0.6213	10	0.72032	D	0.01	-8.0891	4.9725	0.14123	0.2116:0.6799:0.0:0.1085	.	2729;2791	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2791;2729;2633	ENSP00000262518:P2791T;ENSP00000378499:P2729T;ENSP00000343042:P2633T	ENSP00000262518:P2791T	P	+	1	0	SRCAP	30657233	0.067000	0.21026	0.994000	0.49952	0.073000	0.16967	1.091000	0.30915	2.629000	0.89072	0.591000	0.81541	CCG			0.662	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662	
PIEZO1	9780	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	88786808	88786808	+	Silent	SNP	G	G	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr16:88786808G>A	ENST00000301015.9	-	41	6180	c.5934C>T	c.(5932-5934)ggC>ggT	p.G1978G	PIEZO1_ENST00000327397.7_5'Flank|RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1978					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						AGGCCCAGAAGCCAAAAATGA	0.592																																					p.G1978G													.	PIEZO1	79		0			c.C5934T												92.0	90.0	91.0					16																	88786808		692	1591	2283	SO:0001819	synonymous_variant	9780	exon41			CCAGAAGCCAAAA	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5934C>T	16.37:g.88786808G>A			Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	46	0.15	7	NM_001142864	28	0.21	6	A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	ENST00000301015.9	37	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	g	14.14	2.445402	0.43429	.	.	ENSG00000103335	ENST00000451779	.	.	.	5.25	0.618	0.17624	.	.	.	.	.	T	0.40498	0.1119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	-44.9914	0.9456	0.01365	0.2902:0.2745:0.292:0.1434	.	.	.	.	F	1924	.	.	L	-	1	0	FAM38A	87314309	0.410000	0.25376	1.000000	0.80357	0.990000	0.78478	-0.394000	0.07296	0.267000	0.21916	0.555000	0.69702	CTT			0.592	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000345699.4		NM_014745	
NEURL4	84461	mdanderson.org	37	17	7226392	7226392	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:7226392C>T	ENST00000399464.2	-	15	2483	c.2468G>A	c.(2467-2469)tGt>tAt	p.C823Y	NEURL4_ENST00000570460.1_Missense_Mutation_p.C801Y|NEURL4_ENST00000315614.7_Missense_Mutation_p.C823Y	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	823	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCAGGTCACACCCATAATT	0.577																																					p.C823Y													.	.			0			c.G2468A												63.0	62.0	62.0					17																	7226392		2192	4277	6469	SO:0001583	missense	84461	exon15			AGGTCACACCCAT		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2468G>A	17.37:g.7226392C>T	ENSP00000382390:p.Cys823Tyr		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_001005408	22	0.00	0	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924492	0.92319	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.72167	1.39;-0.63	5.37	5.37	0.77165	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	M	0.67953	2.075	0.53688	D	0.999975	D;D	0.76494	0.999;0.99	D;P	0.65010	0.931;0.643	T	0.82892	-0.0232	10	0.56958	D	0.05	-12.8861	18.25	0.89998	0.0:1.0:0.0:0.0	.	823;823	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Y	823	ENSP00000319826:C823Y;ENSP00000382390:C823Y	ENSP00000319826:C823Y	C	-	2	0	NEURL4	7167116	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	5.588000	0.67517	2.687000	0.91594	0.563000	0.77884	TGT			0.577	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000255434.2		NM_032442	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		Somatic	210	0.0333333333	7		RNA-Seq	Illumina HiSeq		146	0.04	6	NM_145301	23	0.52	12	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	
CNP	1267	mdanderson.org	37	17	40125872	40125872	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:40125872G>T	ENST00000393892.3	+	4	1340	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	CNP_ENST00000472031.1_3'UTR|CNP_ENST00000591072.1_Missense_Mutation_p.G164V|CNP_ENST00000393888.1_Missense_Mutation_p.G379V	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	399					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGTACTACGGGAAAGGCAAA	0.587																																					p.G399V													.	.			0			c.G1196T												36.0	41.0	39.0					17																	40125872		2024	4183	6207	SO:0001583	missense	1267	exon4			ACTACGGGAAAGG		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.1196G>T	17.37:g.40125872G>T	ENSP00000377470:p.Gly399Val		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_033133	99	0.00	0		Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309735	0.60414	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.67698	-0.28;-0.28	5.19	5.19	0.71726	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.141138	0.47852	D	0.000213	T	0.79896	0.4525	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.81976	-0.0686	10	0.87932	D	0	-35.1459	16.5106	0.84283	0.0:0.0:1.0:0.0	.	276;399	B4DI06;P09543	.;CN37_HUMAN	V	399;275;379	ENSP00000377470:G399V;ENSP00000377466:G379V	ENSP00000309643:G275V	G	+	2	0	CNP	37379398	1.000000	0.71417	0.995000	0.50966	0.441000	0.31987	6.729000	0.74775	2.426000	0.82243	0.561000	0.74099	GGG			0.587	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257443.2			
SLC4A1	6521	mdanderson.org	37	17	42330687	42330687	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:42330687G>T	ENST00000262418.6	-	17	2265	c.2110C>A	c.(2110-2112)Ctg>Atg	p.L704M		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	704	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCAGGTCCAGGTGGAAGCCG	0.632																																					p.L704M													.	.			0			c.C2110A												82.0	75.0	78.0					17																	42330687		2203	4300	6503	SO:0001583	missense	6521	exon17			GGTCCAGGTGGAA		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2110C>A	17.37:g.42330687G>T	ENSP00000262418:p.Leu704Met		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	55	0.05	3	NM_000342	1	0.00	0	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813236	0.50527	.	.	ENSG00000004939	ENST00000262418	D	0.83992	-1.79	4.61	2.53	0.30540	Bicarbonate transporter, C-terminal (1);	0.246916	0.35525	N	0.003152	D	0.88529	0.6461	M	0.84511	2.7	0.32684	N	0.515151	D	0.60575	0.988	D	0.65323	0.934	D	0.87617	0.2507	10	0.41790	T	0.15	.	6.3126	0.21173	0.1581:0.0:0.6769:0.165	.	704	P02730	B3AT_HUMAN	M	704	ENSP00000262418:L704M	ENSP00000262418:L704M	L	-	1	2	SLC4A1	39686213	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.545000	0.45769	1.040000	0.40099	-0.410000	0.06199	CTG			0.632	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000346194.1		NM_000342	
RGS9	8787	mdanderson.org	37	17	63221584	63221584	+	Missense_Mutation	SNP	G	G	T	rs544640448		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:63221584G>T	ENST00000262406.9	+	18	1939	c.1872G>T	c.(1870-1872)ttG>ttT	p.L624F	RGS9_ENST00000443584.3_Missense_Mutation_p.L621F|RGS9_ENST00000449996.3_Missense_Mutation_p.L621F	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	624					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCCACGATTGAAATCCAAGA	0.597																																					p.L624F													RGS9,NS,carcinoma,0,1	RGS9	0	1	0			c.G1872T												49.0	53.0	51.0					17																	63221584		2035	4192	6227	SO:0001583	missense	8787	exon18			ACGATTGAAATCC	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1872G>T	17.37:g.63221584G>T	ENSP00000262406:p.Leu624Phe		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	17	0.12	2	NM_003835	0		0	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195294	0.38806	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.32753	1.45;1.44	4.52	2.53	0.30540	.	0.912389	0.09408	N	0.806250	T	0.28499	0.0705	L	0.44542	1.39	0.09310	N	1	P;P;P	0.37276	0.454;0.454;0.589	B;B;B	0.37888	0.133;0.133;0.26	T	0.18398	-1.0338	10	0.52906	T	0.07	.	10.0944	0.42466	0.1698:0.0:0.8302:0.0	.	624;624;621	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	F	624;621	ENSP00000262406:L624F;ENSP00000396329:L621F	ENSP00000262406:L624F	L	+	3	2	RGS9	60652046	0.786000	0.28738	0.188000	0.23233	0.956000	0.61745	1.949000	0.40313	1.205000	0.43262	0.561000	0.74099	TTG			0.597	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000445885.1		NM_003835	
AFMID	125061	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	17	76198677	76198677	+	Silent	SNP	G	G	T	rs189378031	byFrequency	TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr17:76198677G>T	ENST00000327898.5	+	3	261	c.252G>T	c.(250-252)tcG>tcT	p.S84S	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000409257.5_Silent_p.S84S					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCGACGAGTCGTCTGAAGGTT	0.647																																					p.S84S													AFMID,NS,carcinoma,+1,1	AFMID	1	1	0			c.G252T												33.0	35.0	34.0					17																	76198677		2203	4300	6503	SO:0001819	synonymous_variant	125061	exon3			CGAGTCGTCTGAA	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.252G>T	17.37:g.76198677G>T			Somatic	83	0	0		WXS	Illumina HiSeq	.	67	0.12	8	NM_001145526	17	0.24	4		Silent	SNP	ENST00000327898.5	37	CCDS45801.1																																																																																					0.647	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000333203.1		XM_058889	
MUC16	94025	mdanderson.org	37	19	9025604	9025604	+	Silent	SNP	A	A	G	rs200791776		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr19:9025604A>G	ENST00000397910.4	-	15	37053	c.36850T>C	c.(36850-36852)Ttg>Ctg	p.L12284L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12286	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAAGGTCAATCTGCAGCCA	0.522																																					p.L12284L													.	.			0			c.T36850C												115.0	104.0	108.0					19																	9025604		1962	4161	6123	SO:0001819	synonymous_variant	94025	exon15			AGGTCAATCTGCA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36850T>C	19.37:g.9025604A>G			Somatic	119	0.025210084	3		WXS	Illumina HiSeq	Phase_I	91	0.08	7	NM_024690	0		0	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																					0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690	
GREB1	9687	ucsc.edu	37	2	11720844	11720844	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:11720844C>T	ENST00000381486.2	+	7	1087	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	GREB1_ENST00000381483.2_Missense_Mutation_p.H263Y|GREB1_ENST00000263834.5_Missense_Mutation_p.H263Y|GREB1_ENST00000234142.5_Missense_Mutation_p.H263Y|GREB1_ENST00000389825.3_Missense_Mutation_p.H153Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	263						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCTTCTGATCACCCCTCACT	0.522																																					p.H263Y	Ovarian(39;850 945 2785 23371 33093)												.	GREB1	308		0			c.C787T												115.0	113.0	114.0					2																	11720844		2203	4300	6503	SO:0001583	missense	9687	exon7			TCTGATCACCCCT		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.787C>T	2.37:g.11720844C>T	ENSP00000370896:p.His263Tyr		Somatic	59	0	0		WXS	Illumina HiSeq		47	0.11	5	NM_148903	12	0.00	0	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	2.459	-0.324641	0.05350	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.47528	3.23;2.23;0.84;2.24;3.23	5.57	4.69	0.59074	.	0.357052	0.24907	N	0.034641	T	0.30479	0.0766	N	0.25647	0.755	0.36120	D	0.845407	B;B;B;B	0.19200	0.007;0.034;0.004;0.0	B;B;B;B	0.22386	0.006;0.039;0.004;0.001	T	0.15350	-1.0440	10	0.02654	T	1	-16.0635	12.1525	0.54057	0.0:0.9196:0.0:0.0804	.	263;153;263;263	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	Y	263;263;153;263;263	ENSP00000370896:H263Y;ENSP00000263834:H263Y;ENSP00000374475:H153Y;ENSP00000370892:H263Y;ENSP00000234142:H263Y	ENSP00000234142:H263Y	H	+	1	0	GREB1	11638295	0.993000	0.37304	0.048000	0.18961	0.085000	0.17905	2.324000	0.43831	2.628000	0.89032	0.561000	0.74099	CAC			0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000280490.1		NM_014668	
CREG2	200407	mdanderson.org	37	2	102003876	102003876	+	Missense_Mutation	SNP	C	C	T	rs531387490		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:102003876C>T	ENST00000324768.5	-	1	181	c.44G>A	c.(43-45)cGc>cAc	p.R15H	CREG2_ENST00000495455.1_5'Flank	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	15						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCAGGAGAGGCGGGTccccgg	0.766																																					p.R15H													.	.			0			c.G44A												2.0	2.0	2.0					2																	102003876		1664	3371	5035	SO:0001583	missense	200407	exon1			GAGAGGCGGGTCC	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.44G>A	2.37:g.102003876C>T	ENSP00000315203:p.Arg15His		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	18	0.11	2	NM_153836	1	0.00	0	Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	ENST00000324768.5	37	CCDS2052.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138139	0.37728	.	.	ENSG00000175874	ENST00000324768	T	0.46063	0.88	4.02	4.02	0.46733	.	0.865003	0.09894	N	0.741984	T	0.37128	0.0992	L	0.40543	1.245	0.18873	N	0.999981	P	0.52692	0.955	B	0.42188	0.379	T	0.15093	-1.0449	10	0.25751	T	0.34	.	14.0686	0.64847	0.0:1.0:0.0:0.0	.	15	Q8IUH2	CREG2_HUMAN	H	15	ENSP00000315203:R15H	ENSP00000315203:R15H	R	-	2	0	CREG2	101370308	0.000000	0.05858	0.037000	0.18230	0.033000	0.12548	0.186000	0.16978	2.067000	0.61834	0.455000	0.32223	CGC			0.766	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253188.2		NM_153836	
FMNL2	114793	mdanderson.org	37	2	153497328	153497328	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:153497328G>T	ENST00000475377.2	+	12	1394	c.1194G>T	c.(1192-1194)agG>agT	p.R398S	FMNL2_ENST00000288670.9_Missense_Mutation_p.R1023S			Q96PY5	FMNL2_HUMAN	formin-like 2	1023	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AATCAAAGAGGCAGCAGCAAG	0.403																																					p.R1023S													.	.			0			c.G3069T												75.0	72.0	73.0					2																	153497328		1866	4108	5974	SO:0001583	missense	114793	exon25			AAAGAGGCAGCAG	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1194G>T	2.37:g.153497328G>T	ENSP00000418959:p.Arg398Ser		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_052905	143	0.00	0	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37		.	.	.	.	.	.	.	.	.	.	G	14.26	2.481584	0.44147	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.76448	-1.02;2.26	5.33	0.977	0.19733	Actin-binding FH2/DRF autoregulatory (1);	.	.	.	.	T	0.72598	0.3480	L	0.49350	1.555	0.58432	D	0.999991	P;B;P	0.41597	0.629;0.389;0.756	B;B;P	0.48598	0.18;0.101;0.583	T	0.64390	-0.6419	9	0.08599	T	0.76	.	8.933	0.35682	0.4355:0.0:0.5645:0.0	.	1023;504;1023	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	S	1023;504;398	ENSP00000288670:R1023S;ENSP00000418959:R398S	ENSP00000288670:R1023S	R	+	3	2	FMNL2	153205574	0.994000	0.37717	0.997000	0.53966	0.989000	0.77384	0.341000	0.19909	-0.114000	0.11936	-0.253000	0.11424	AGG			0.403	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000333583.3		NM_052905	
FAP	2191	mdanderson.org	37	2	163075681	163075681	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:163075681G>T	ENST00000188790.4	-	8	706	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	FAP_ENST00000443424.1_Missense_Mutation_p.Q142K	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATATTGTTTTGATAGACATAT	0.308																																					p.Q167K													.	.			0			c.C499A												110.0	118.0	116.0					2																	163075681		2203	4297	6500	SO:0001583	missense	2191	exon8			TGTTTTGATAGAC	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.499C>A	2.37:g.163075681G>T	ENSP00000188790:p.Gln167Lys		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_004460	0		0		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227967	0.22542	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T;T	0.95756	-3.8;1.61;1.58	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.227351	0.45606	D	0.000348	D	0.90779	0.7105	N	0.16478	0.41	0.41672	D	0.989249	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.20577	0.03;0.008;0.008	D	0.85709	0.1318	10	0.30854	T	0.27	-8.7662	15.9811	0.80111	0.0:0.1339:0.8661:0.0	.	142;167;167	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	K	167;142;146	ENSP00000188790:Q167K;ENSP00000411391:Q142K;ENSP00000400137:Q146K	ENSP00000188790:Q167K	Q	-	1	0	FAP	162783927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.759000	0.47573	2.937000	0.99478	0.650000	0.86243	CAA			0.308	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332852.2			
ITGA6	3655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	173349559	173349559	+	Silent	SNP	A	A	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:173349559A>G	ENST00000264106.6	+	13	1919	c.1716A>G	c.(1714-1716)ctA>ctG	p.L572L	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Silent_p.L528L|ITGA6_ENST00000409080.1_Silent_p.L533L|ITGA6_ENST00000409532.1_Silent_p.L414L|ITGA6_ENST00000264107.7_Silent_p.L533L|ITGA6_ENST00000375221.2_Silent_p.L572L			P23229	ITA6_HUMAN	integrin, alpha 6	572					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AATCTGGGCTATCCTCAAGAG	0.393																																					p.L533L													.	.			0			c.A1599G												66.0	66.0	66.0					2																	173349559		2203	4300	6503	SO:0001819	synonymous_variant	3655	exon12			TGGGCTATCCTCA		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1716A>G	2.37:g.173349559A>G			Somatic	102	0	0		WXS	Illumina HiSeq	.	117	0.18	21	NM_001079818	198	0.20	40	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37																																																																																						0.393	ITGA6-201	KNOWN	basic	protein_coding	protein_coding					
ATIC	471	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	216209567	216209568	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:216209567_216209568delCT	ENST00000236959.9	+	13	1619_1620	c.1293_1294delCT	c.(1291-1296)aactctfs	p.S432fs	ATIC_ENST00000540518.1_Frame_Shift_Del_p.S373fs|ATIC_ENST00000435675.1_Frame_Shift_Del_p.S431fs	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	432					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTCAGTCTAACTCTGTGTGCTA	0.495			T	ALK	ALCL																																p.431_431del				Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	.	ATIC	84		0			c.1292_1293del																																									SO:0001589	frameshift_variant	471	exon13			GTCTAACTCTGTG		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1293_1294delCT	2.37:g.216209569_216209570delCT	ENSP00000236959:p.Ser432fs		Somatic	116	0	0		WXS	Illumina HiSeq	.	114	0.17	19	NM_004044	691	0.00	0	A8K202|E9PBU3|Q13856|Q53S28	Frame_Shift_Del	DEL	ENST00000236959.9	37	CCDS2398.1																																																																																					0.495	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256610.1		NM_004044	
TMEM169	92691	broad.mit.edu	37	2	216965258	216965258	+	Missense_Mutation	SNP	C	C	T	rs142015527		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr2:216965258C>T	ENST00000295658.4	+	3	1094	c.887C>T	c.(886-888)aCg>aTg	p.T296M	TMEM169_ENST00000406027.2_Missense_Mutation_p.T296M|TMEM169_ENST00000454545.1_Missense_Mutation_p.T296M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T296M	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	296						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAACCTCCACGGTCTAAACT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20369	0.001		0.0	False		,,,				2504	0.0				p.T296M													.	TMEM169	46		0			c.C887T							C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	81.0	88.0	85.0		887,887,887,887	3.3	0.9	2	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	TMEM169	NM_001142310.1,NM_001142311.1,NM_001142312.1,NM_138390.3	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	296/298,296/298,296/298,296/298	216965258	1,13005	2203	4300	6503	SO:0001583	missense	92691	exon4			CCTCCACGGTCTA	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.887C>T	2.37:g.216965258C>T	ENSP00000295658:p.Thr296Met		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	70	0.06	4	NM_001142310	4	0.00	0	B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.22	2.171098	0.38315	0.0	1.16E-4	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	5.08	3.26	0.37387	.	0.446118	0.26153	N	0.026032	T	0.23014	0.0556	N	0.14661	0.345	0.28524	N	0.912932	B	0.22003	0.063	B	0.18263	0.021	T	0.15206	-1.0445	8	.	.	.	-0.9091	9.5198	0.39129	0.0:0.7783:0.1438:0.078	.	296	Q96HH4	TM169_HUMAN	M	296	.	.	T	+	2	0	TMEM169	216673503	1.000000	0.71417	0.887000	0.34795	0.976000	0.68499	5.089000	0.64492	0.689000	0.31550	0.655000	0.94253	ACG			0.448	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256666.2		NM_138390	
EMILIN3	90187	mdanderson.org	37	20	39993681	39993681	+	Missense_Mutation	SNP	G	G	T	rs539922564		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr20:39993681G>T	ENST00000332312.3	-	2	476	c.284C>A	c.(283-285)aCa>aAa	p.T95K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	95	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TTACGTGACTGTCCCGGGGCA	0.592																																					p.T95K													.	.			0			c.C284A												187.0	145.0	159.0					20																	39993681		2203	4300	6503	SO:0001583	missense	90187	exon2			GTGACTGTCCCGG	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.284C>A	20.37:g.39993681G>T	ENSP00000332806:p.Thr95Lys		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_052846	0		0	Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706796	0.48412	.	.	ENSG00000183798	ENST00000332312	T	0.13538	2.58	4.55	4.55	0.56014	EMI domain (2);	0.261319	0.37955	N	0.001863	T	0.13670	0.0331	L	0.48362	1.52	0.32024	N	0.600406	P	0.42296	0.775	B	0.39660	0.306	T	0.07986	-1.0744	9	.	.	.	-3.459	12.4354	0.55596	0.0:0.0:0.7888:0.2112	.	95	Q9NT22	EMIL3_HUMAN	K	95	ENSP00000332806:T95K	.	T	-	2	0	EMILIN3	39427095	0.999000	0.42202	0.993000	0.49108	0.946000	0.59487	2.609000	0.46317	2.345000	0.79718	0.655000	0.94253	ACA			0.592	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000106876.2		XM_029741	
DEPDC5	9681	broad.mit.edu	37	22	32302245	32302245	+	Missense_Mutation	SNP	G	G	A	rs370366925		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr22:32302245G>A	ENST00000382112.3	+	42	4617	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1505S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1505S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1503Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342Q|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425Q|DEPDC5_ENST00000382105.2_3'UTR	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1525					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.R1494Q(1)|p.R1425Q(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGCAGCAGCGGCGGCGGCGG	0.607																																					p.R1525Q													DEPDC5_ENST00000535622,NS,carcinoma,0,1	DEPDC5	266	1	2	Substitution - Missense(2)	endometrium(2)	c.G4574A							G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3897		0,1,1948	31.0	36.0	34.0		4547,4574,4274,4481	4.0	1.0	22		34	0,8270		0,0,4135	no	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	43,43,43,43	0,1,6083	AA,AG,GG		0.0,0.0257,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1516/1595,1525/1604,1425/1504,1494/1573	32302245	1,12167	1949	4135	6084	SO:0001583	missense	9681	exon43			AGCAGCGGCGGCG	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4547G>A	22.37:g.32302245G>A	ENSP00000371546:p.Arg1516Gln		Somatic	221	0	0		WXS	Illumina HiSeq	Phase_I	303	0.02	5	NM_001242896	52	0.00	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.511871|4.511871	0.85389|0.85389	2.57E-4|2.57E-4	0.0|0.0	ENSG00000100150|ENSG00000100150	ENST00000400246;ENST00000382111|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165	T;T|T;T;T;T;T	0.21191|0.32023	2.02;2.02|1.47;1.9;1.9;1.91;1.9	4.99|4.99	3.96|3.96	0.45880|0.45880	.|.	.|0.091579	.|0.44483	.|D	.|0.000449	T|T	0.45756|0.45756	0.1358|0.1358	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.999;0.997	.|D;D;D;D;D	.|0.75484	.|0.978;0.945;0.986;0.978;0.968	T|T	0.24119|0.24119	-1.0169|-1.0169	7|10	0.87932|0.25106	D|T	0|0.35	.|.	14.0559|14.0559	0.64769|0.64769	0.0:0.0:0.8478:0.1522|0.0:0.0:0.8478:0.1522	.|.	.|1525;1425;1503;1516;1494	.|B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;DEPD5_HUMAN	S|Q	1505|1425;1503;1494;1425;1516;1494;342	ENSP00000383105:G1505S;ENSP00000371545:G1505S|ENSP00000440210:R1425Q;ENSP00000266091:R1503Q;ENSP00000383108:R1494Q;ENSP00000371546:R1516Q;ENSP00000383107:R1494Q	ENSP00000371545:G1505S|ENSP00000266091:R1503Q	G|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30632245|30632245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.191000|9.191000	0.94940|0.94940	1.225000|1.225000	0.43566|0.43566	0.462000|0.462000	0.41574|0.41574	GGC|CGG			0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129087.1		NM_014662	
KIF15	56992	mdanderson.org	37	3	44872428	44872428	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr3:44872428G>T	ENST00000326047.4	+	26	3238	c.3089G>T	c.(3088-3090)aGa>aTa	p.R1030I	KIF15_ENST00000425755.1_Missense_Mutation_p.R665I	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1030					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAGAGAGCAGAGTGTTGATC	0.378																																					p.R1030I													.	.			0			c.G3089T												139.0	134.0	136.0					3																	44872428		2203	4300	6503	SO:0001583	missense	56992	exon26			AGAGCAGAGTGTT	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3089G>T	3.37:g.44872428G>T	ENSP00000324020:p.Arg1030Ile		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_020242	34	0.00	0	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038442	0.35989	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.45276	0.9;0.9	6.06	2.1	0.27182	.	0.253773	0.27797	N	0.017803	T	0.20129	0.0484	N	0.08118	0	0.30780	N	0.742124	B	0.31485	0.325	B	0.30029	0.11	T	0.12528	-1.0544	10	0.62326	D	0.03	.	6.6094	0.22743	0.728:0.1288:0.1432:0.0	.	1030	Q9NS87	KIF15_HUMAN	I	1030;1029;665	ENSP00000324020:R1030I;ENSP00000389982:R665I	ENSP00000324020:R1030I	R	+	2	0	KIF15	44847432	0.918000	0.31147	0.171000	0.22900	0.602000	0.36980	1.112000	0.31172	0.139000	0.18822	-0.290000	0.09829	AGA			0.378	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343831.2			
UMPS	7372	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	124456529	124456529	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr3:124456529A>C	ENST00000232607.2	+	3	531	c.425A>C	c.(424-426)gAg>gCg	p.E142A	UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.E50A|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000413078.2_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	142	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CTTCAGAAGGAGGGCTTGAAG	0.483																																					p.E142A													.	UMPS	43		0			c.A425C												127.0	118.0	121.0					3																	124456529		2203	4300	6503	SO:0001583	missense	7372	exon3			AGAAGGAGGGCTT		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.425A>C	3.37:g.124456529A>C	ENSP00000232607:p.Glu142Ala		Somatic	155	0.0064516129	1		WXS	Illumina HiSeq	Phase_I	151	0.10	15	NM_000373	135	0.24	33	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071774	0.36566	.	.	ENSG00000114491	ENST00000232607;ENST00000536109	D;D	0.99194	-5.54;-5.54	5.65	4.47	0.54385	Phosphoribosyltransferase (1);	0.104292	0.64402	N	0.000004	D	0.94961	0.8370	N	0.11427	0.14	0.80722	D	1	B	0.06786	0.001	B	0.17979	0.02	D	0.91828	0.5473	10	0.08837	T	0.75	-21.1584	11.6096	0.51052	0.8512:0.1488:0.0:0.0	.	142	P11172	UMPS_HUMAN	A	142;50	ENSP00000232607:E142A;ENSP00000443577:E50A	ENSP00000232607:E142A	E	+	2	0	UMPS	125939219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.367000	0.59498	1.120000	0.41904	0.533000	0.62120	GAG			0.483	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355271.1		NM_000373	
KCNMB3	27094	mdanderson.org	37	3	178962476	178962476	+	Missense_Mutation	SNP	T	T	C	rs4080958		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr3:178962476T>C	ENST00000314235.5	-	3	777	c.266A>G	c.(265-267)cAg>cGg	p.Q89R	KCNMB3_ENST00000485523.1_Missense_Mutation_p.Q67R|KCNMB3_ENST00000497599.1_Missense_Mutation_p.Q87R|KCNMB3_ENST00000392685.2_Missense_Mutation_p.Q85R|KCNMB3_ENST00000349697.2_Missense_Mutation_p.Q87R|KCNMB3_ENST00000486944.1_5'Flank	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	89					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	TTCTTCTCTCTGAATGCTTCA	0.433																																					p.Q89R													.	.			0			c.A266G												55.0	54.0	54.0					3																	178962476		2203	4300	6503	SO:0001583	missense	27094	exon3			TCTCTCTGAATGC	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"""Potassium channels"""	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.266A>G	3.37:g.178962476T>C	ENSP00000319370:p.Gln89Arg		Somatic	181	0.0220994475	4		WXS	Illumina HiSeq	Phase_I	177	0.05	9	NM_014407	4	0.00	0	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000314235.5	37	CCDS3226.1	.	.	.	.	.	.	.	.	.	.	T	4.850	0.157976	0.09236	.	.	ENSG00000171121	ENST00000497599;ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.43	0.127	0.14727	.	0.414974	0.27739	N	0.018041	T	0.10680	0.0261	M	0.74881	2.28	0.20821	N	0.999844	B;B;B;B;B	0.12630	0.006;0.001;0.0;0.001;0.002	B;B;B;B;B	0.14578	0.011;0.002;0.001;0.002;0.005	T	0.28522	-1.0041	10	0.27082	T	0.32	-14.8375	4.3958	0.11362	0.1419:0.3181:0.0:0.54	rs4080958;rs4080958	87;87;67;85;89	E9PER5;Q9NPA1-2;Q9NPA1-4;Q9NPA1-3;Q9NPA1	.;.;.;.;KCMB3_HUMAN	R	87;85;87;89;67	ENSP00000417091:Q87R;ENSP00000376451:Q85R;ENSP00000327866:Q87R;ENSP00000319370:Q89R;ENSP00000418536:Q67R	ENSP00000319370:Q89R	Q	-	2	0	KCNMB3	180445170	1.000000	0.71417	0.054000	0.19295	0.025000	0.11179	1.619000	0.36965	-0.129000	0.11620	-1.087000	0.02190	CAG			0.433	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000348484.1			
DSPP	1834	bcgsc.ca	37	4	88537270	88537270	+	Silent	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr4:88537270C>T	ENST00000282478.7	+	4	3489	c.3456C>T	c.(3454-3456)gaC>gaT	p.D1152D	DSPP_ENST00000399271.1_Silent_p.D1152D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1152	Asp/Ser-rich.			D -> N (in Ref. 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		aaagcagcgacagcagtgaca	0.557																																					p.D1152D													.	DSPP	174		0			c.C3456T												47.0	61.0	56.0					4																	88537270		1584	2865	4449	SO:0001819	synonymous_variant	1834	exon5			CAGCGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3456C>T	4.37:g.88537270C>T			Somatic	93	0.0107526882	1		WXS	Illumina HiSeq	Phase_1	106	0.08	8	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.557	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208	
DPYSL3	1809	mdanderson.org	37	5	146777272	146777272	+	Missense_Mutation	SNP	G	G	T	rs373475070		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr5:146777272G>T	ENST00000398514.3	-	12	1789	c.1418C>A	c.(1417-1419)cCg>cAg	p.P473Q	DPYSL3_ENST00000343218.5_Missense_Mutation_p.P587Q|DPYSL3_ENST00000534907.1_Missense_Mutation_p.P99Q	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	473					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGGAGAACGGGCTGCAGGG	0.572																																					p.P587Q													.	.			0			c.C1760A												85.0	90.0	88.0					5																	146777272		2033	4184	6217	SO:0001583	missense	1809	exon12			GAGAACGGGCTGC	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1418C>A	5.37:g.146777272G>T	ENSP00000381526:p.Pro473Gln		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001197294	38	0.00	0	B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538941	0.85917	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907	T;T;T	0.75367	-0.93;-0.93;-0.93	6.03	6.03	0.97812	.	0.094474	0.85682	D	0.000000	T	0.78110	0.4232	M	0.78285	2.405	0.80722	D	1	P;P	0.45531	0.853;0.86	B;B	0.40009	0.243;0.316	T	0.81385	-0.0957	10	0.72032	D	0.01	-13.4513	20.5752	0.99366	0.0:0.0:1.0:0.0	.	587;473	B3SXQ8;Q14195	.;DPYL3_HUMAN	Q	473;587;99	ENSP00000381526:P473Q;ENSP00000343690:P587Q;ENSP00000441819:P99Q	ENSP00000343690:P587Q	P	-	2	0	DPYSL3	146757465	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.977000	0.88081	2.868000	0.98415	0.557000	0.71058	CCG			0.572	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373421.2		NM_001387	
CAMK2A	815	mdanderson.org	37	5	149607840	149607840	+	Nonsense_Mutation	SNP	G	G	T	rs375087065		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr5:149607840G>T	ENST00000348628.6	-	16	1784	c.1119C>A	c.(1117-1119)tgC>tgA	p.C373*	CAMK2A_ENST00000398376.3_Nonsense_Mutation_p.C384*|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	373					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCAGGGTCGCACATCTTCC	0.552																																					p.C384X													.	.			0			c.C1152A												50.0	54.0	53.0					5																	149607840		1903	4118	6021	SO:0001587	stop_gained	815	exon17			AGGGTCGCACATC	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1119C>A	5.37:g.149607840G>T	ENSP00000261793:p.Cys373*		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	27	0.11	3	NM_015981	0		0	Q9UL21|Q9Y2H4|Q9Y352	Nonsense_Mutation	SNP	ENST00000348628.6	37	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	G	43	10.079762	0.99332	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	.	.	.	5.7	-1.62	0.08372	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6927	0.56985	0.7655:0.0:0.2345:0.0	.	.	.	.	X	373;384	.	ENSP00000261793:C373X	C	-	3	2	CAMK2A	149588033	0.943000	0.32029	0.994000	0.49952	0.960000	0.62799	0.221000	0.17680	-0.206000	0.10203	-0.140000	0.14226	TGC			0.552	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000258869.2		NM_015981	
PRRC2A	7916	mdanderson.org	37	6	31596000	31596000	+	Silent	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr6:31596000C>T	ENST00000376033.2	+	12	1983	c.1749C>T	c.(1747-1749)agC>agT	p.S583S	PRRC2A_ENST00000376007.4_Silent_p.S583S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	583	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAGTGGCAGCTTCGAAGCCA	0.577																																					p.S583S													.	.			0			c.C1749T												57.0	51.0	53.0					6																	31596000		1511	2709	4220	SO:0001819	synonymous_variant	7916	exon12			TGGCAGCTTCGAA	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1749C>T	6.37:g.31596000C>T			Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_004638	291	0.00	1	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																					0.577	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259319.1		NM_080686	
CUL9	23113	mdanderson.org	37	6	43156418	43156418	+	Silent	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr6:43156418G>T	ENST00000252050.4	+	8	2229	c.2145G>T	c.(2143-2145)cgG>cgT	p.R715R	CUL9_ENST00000354495.3_Silent_p.R605R|CUL9_ENST00000372647.2_Silent_p.R715R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	715					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCACTGAGCGGGACCACCCTC	0.587																																					p.R715R													CUL9,colon,carcinoma,+2,1	CUL9	2	1	0			c.G2145T												78.0	69.0	72.0					6																	43156418		2203	4300	6503	SO:0001819	synonymous_variant	23113	exon8			TGAGCGGGACCAC	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2145G>T	6.37:g.43156418G>T			Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	79	0.06	5	NM_015089	5	0.00	0	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																					0.587	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040582.2		NM_015089	
RAET1L	154064	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	150346542	150346542	+	Missense_Mutation	SNP	C	C	G	rs200401216		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr6:150346542C>G	ENST00000367341.1	-	1	65	c.66G>C	c.(64-66)tgG>tgC	p.W22C	RAET1L_ENST00000286380.2_Missense_Mutation_p.W22C			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	22					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TAGCCCGGGACCAGCCGAACA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		14704	0.0		0.001	False		,,,				2504	0.0				p.W22C													.	.			0			c.G66C							C	CYS/TRP	0,4406		0,0,2203	50.0	51.0	51.0		66	-1.0	0.0	6		51	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RAET1L	NM_130900.2	215	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	22/247	150346542	2,13004	2203	4300	6503	SO:0001583	missense	154064	exon1			CCGGGACCAGCCG	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.66G>C	6.37:g.150346542C>G	ENSP00000356310:p.Trp22Cys		Somatic	48	0	0		WXS	Illumina HiSeq	.	75	0.08	6	NM_130900	0		0	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	6.685	0.494926	0.12702	0.0	2.33E-4	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.00760	5.73;5.73	0.495	-0.962	0.10333	.	.	.	.	.	T	0.01353	0.0044	M	0.84082	2.675	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38972	-0.9636	8	0.72032	D	0.01	.	.	.	.	.	22	Q5VY80	RET1L_HUMAN	C	22	ENSP00000356310:W22C;ENSP00000286380:W22C	ENSP00000286380:W22C	W	-	3	0	RAET1L	150388235	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.411000	0.07142	-0.478000	0.06823	0.313000	0.20887	TGG	0.001		0.627	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042676.1		NM_130900	
RP3-470B24.5	0	broad.mit.edu	37	6	168376821	168376821	+	lincRNA	SNP	T	T	C			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr6:168376821T>C	ENST00000538528.1	-	0	798																											TGGGGGTCACTCCCCCTGCAG	0.602																																					p.E171G													.	.			0			c.A512G												30.0	30.0	30.0					6																	168376821		692	1591	2283			0	exon1			GGTCACTCCCCCT																													6.37:g.168376821T>C			Somatic	249	0.0080321285	2		WXS	Illumina HiSeq	Phase_I	206	0.03	7	NM_001129895	32	0.00	0		RNA	SNP	ENST00000538528.1	37																																																																																						0.602	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA					
PMS2	5395	broad.mit.edu	37	7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	rs267608167		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGGACAAATCTTTGCCCTAAA	0.328			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.K651R			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.A1952G												89.0	86.0	87.0					7																	6026444		2203	4300	6503	SO:0001583	missense	5395	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CAAATCTTTGCCC		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1952A>G	7.37:g.6026444T>C	ENSP00000265849:p.Lys651Arg		Somatic	371	0.0026954178	1		WXS	Illumina HiSeq	Phase_I	520	0.01	4	NM_000535	45	0.02	1	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	13.77	2.335511	0.41398	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	T;T	0.40225	1.04;1.04	5.82	0.829	0.18847	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.77103	2.36	0.47476	D	0.999431	B;B	0.33583	0.021;0.418	B;B	0.40982	0.019;0.345	T	0.30909	-0.9962	10	0.35671	T	0.21	-19.6292	9.5139	0.39093	0.0:0.2623:0.0:0.7377	rs63751461	651;545	P54278;C9J167	PMS2_HUMAN;.	R	651;604;545	ENSP00000265849:K651R;ENSP00000392843:K545R	ENSP00000265849:K651R	K	-	2	0	PMS2	5992970	1.000000	0.71417	0.842000	0.33263	0.835000	0.47333	2.986000	0.49370	-0.068000	0.12953	-0.369000	0.07265	AAG			0.328	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535	
NYAP1	222950	mdanderson.org	37	7	100086606	100086606	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr7:100086606A>G	ENST00000300179.2	+	4	1421	c.1262A>G	c.(1261-1263)gAg>gGg	p.E421G	NYAP1_ENST00000454988.1_Missense_Mutation_p.E364G|NYAP1_ENST00000423930.1_Missense_Mutation_p.E421G	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	421	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCCGGGGGGAGCGGGAGCTC	0.761																																					p.E421G													.	.			0			c.A1262G												6.0	7.0	7.0					7																	100086606		1909	3955	5864	SO:0001583	missense	222950	exon4			GGGGGGAGCGGGA	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1262A>G	7.37:g.100086606A>G	ENSP00000300179:p.Glu421Gly		Somatic	21	0.0476190476	1		WXS	Illumina HiSeq	Phase_I	20	0.25	5	NM_173564	2	0.00	0	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.118777	0.56505	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.34859	1.37;1.34;1.36	4.18	4.18	0.49190	.	0.000000	0.46442	D	0.000286	T	0.35885	0.0947	N	0.19112	0.55	0.40746	D	0.982875	D;B	0.56287	0.975;0.134	P;B	0.58130	0.833;0.085	T	0.09796	-1.0658	10	0.27082	T	0.32	-21.0958	11.2206	0.48853	1.0:0.0:0.0:0.0	.	364;421	C9JS30;Q6ZVC0	.;CG051_HUMAN	G	421;421;364	ENSP00000300179:E421G;ENSP00000411861:E421G;ENSP00000394424:E364G	ENSP00000300179:E421G	E	+	2	0	C7orf51	99924542	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.381000	0.52455	1.744000	0.51775	0.379000	0.24179	GAG			0.761	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339335.2		NM_173564	
CUX1	1523	mdanderson.org	37	7	101877521	101877521	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr7:101877521G>T	ENST00000292535.7	+	22	3660		c.e22+1		CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000546411.2_Splice_Site|CUX1_ENST00000292538.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGAAGAAAGGTAAGTCTCCC	0.542																																					.													.	.			0			c.3655+1G>T												54.0	48.0	50.0					7																	101877521		2203	4300	6503	SO:0001630	splice_region_variant	1523	exon22			AGAAAGGTAAGTC	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3622+1G>T	7.37:g.101877521G>T			Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_001202543	0		0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432459	0.83776	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0082	0.92861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101664241	1.000000	0.71417	0.999000	0.59377	0.741000	0.42261	9.745000	0.98856	2.486000	0.83907	0.655000	0.94253	.			0.542	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913	Intron
NEFL	4747	broad.mit.edu	37	8	24814108	24814108	+	RNA	SNP	A	A	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:24814108A>G	ENST00000221169.5	-	0	516				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGGAAGGGGGAGGATGGATGG	0.697																																					.													.	NEFL	47		0			.																																											4747	.			AGGGGGAGGATGG		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24814108A>G			Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	.	6	0.00	0	B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.697	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript		OTTHUMT00000258943.4		NM_006158	
FGFR1	2260	mdanderson.org	37	8	38273576	38273576	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:38273576G>T	ENST00000447712.2	-	13	2607	c.1666C>A	c.(1666-1668)Ccc>Acc	p.P556T	FGFR1_ENST00000397091.5_Missense_Mutation_p.P554T|FGFR1_ENST00000397113.2_Missense_Mutation_p.P554T|FGFR1_ENST00000397103.1_Missense_Mutation_p.P467T|FGFR1_ENST00000532791.1_Missense_Mutation_p.P554T|FGFR1_ENST00000356207.5_Missense_Mutation_p.P467T|FGFR1_ENST00000341462.5_Missense_Mutation_p.P556T|FGFR1_ENST00000397108.4_Missense_Mutation_p.P554T|FGFR1_ENST00000425967.3_Missense_Mutation_p.P587T|FGFR1_ENST00000326324.6_Missense_Mutation_p.P465T|FGFR1_ENST00000335922.5_Missense_Mutation_p.P546T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACATACAAGGGACCTGCAGGC	0.627		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														p.P587T	Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.			0			c.C1759A												18.0	21.0	20.0					8																	38273576		2038	4199	6237	SO:0001583	missense	2260	exon14			ACAAGGGACCTGC	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1666C>A	8.37:g.38273576G>T	ENSP00000400162:p.Pro556Thr		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_001174067	192	0.00	0	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907922	0.72868	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.47	5.47	0.80525	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90621	0.7059	M	0.66439	2.03	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.98;0.948;0.992;0.986;0.986	D	0.90760	0.4664	10	0.66056	D	0.02	.	19.6948	0.96021	0.0:0.0:1.0:0.0	.	465;465;556;546;554	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	T	554;587;556;556;556;554;554;467;546;465;467;554	ENSP00000380280:P554T;ENSP00000393312:P587T;ENSP00000400162:P556T;ENSP00000340636:P556T;ENSP00000432972:P554T;ENSP00000380302:P554T;ENSP00000348537:P467T;ENSP00000337247:P546T;ENSP00000327229:P465T;ENSP00000380292:P467T;ENSP00000380297:P554T	ENSP00000311337:P556T	P	-	1	0	FGFR1	38392733	1.000000	0.71417	0.986000	0.45419	0.107000	0.19398	9.813000	0.99286	2.723000	0.93209	0.655000	0.94253	CCC			0.627	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					
PCMTD1	115294	bcgsc.ca	37	8	52733110	52733110	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:52733110C>T	ENST00000360540.5	-	7	1281	c.875G>A	c.(874-876)gGt>gAt	p.G292D	PCMTD1_ENST00000522514.1_Missense_Mutation_p.G292D|PCMTD1_ENST00000544451.1_Missense_Mutation_p.G216D|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	292						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGCTGATTACCCACAAATAC	0.398																																					p.G292D													.	PCMTD1	73		0			c.G875A												192.0	187.0	189.0					8																	52733110		2203	4300	6503	SO:0001583	missense	115294	exon6			TGATTACCCACAA		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.875G>A	8.37:g.52733110C>T	ENSP00000353739:p.Gly292Asp		Somatic	156	0.0128205128	2		WXS	Illumina HiSeq	Phase_1	178	0.06	10	NM_052937	51	0.00	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501676	0.64298	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	N	0.25485	0.75	0.80722	D	1	D;D;B	0.89917	0.976;1.0;0.004	P;D;B	0.97110	0.661;1.0;0.006	T	0.26258	-1.0108	10	0.08381	T	0.77	-32.1559	20.4239	0.99064	0.0:1.0:0.0:0.0	.	162;216;292	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	D	292;216;292	ENSP00000353739:G292D;ENSP00000444026:G216D;ENSP00000428099:G292D	ENSP00000353739:G292D	G	-	2	0	PCMTD1	52895663	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.046000	0.76592	2.828000	0.97474	0.655000	0.94253	GGT			0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937	
PCMTD1	115294	bcgsc.ca	37	8	52733144	52733144	+	Missense_Mutation	SNP	C	C	T	rs200246241		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:52733144C>T	ENST00000360540.5	-	7	1247	c.841G>A	c.(841-843)Gtt>Att	p.V281I	PCMTD1_ENST00000522514.1_Missense_Mutation_p.V281I|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V205I|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	281						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTCTGTTTAACTCTCTTTCTT	0.393																																					p.V281I													.	PCMTD1	73		0			c.G841A																																									SO:0001583	missense	115294	exon6			GTTTAACTCTCTT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.841G>A	8.37:g.52733144C>T	ENSP00000353739:p.Val281Ile		Somatic	146	0.0273972603	4		WXS	Illumina HiSeq	Phase_1	169	0.07	11	NM_052937	79	0.00	0	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803545	0.31869	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.46451	0.87;0.87;0.87	5.97	5.97	0.96955	.	0.260164	0.36972	N	0.002316	T	0.37128	0.0992	L	0.42245	1.32	0.27985	N	0.935891	B;B;B	0.32467	0.039;0.372;0.001	B;B;B	0.35770	0.024;0.21;0.002	T	0.27905	-1.0060	10	0.21540	T	0.41	-33.7683	13.3218	0.60436	0.2592:0.7408:0.0:0.0	.	151;205;281	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	I	281;205;281	ENSP00000353739:V281I;ENSP00000444026:V205I;ENSP00000428099:V281I	ENSP00000353739:V281I	V	-	1	0	PCMTD1	52895697	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.921000	0.70028	2.828000	0.97474	0.655000	0.94253	GTT			0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377909.2		NM_052937	
PKHD1L1	93035	mdanderson.org	37	8	110374854	110374854	+	Silent	SNP	G	G	A			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:110374854G>A	ENST00000378402.5	+	1	149	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	15					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTGTGGGCTGCTCCTGTGTG	0.642										HNSCC(38;0.096)																											p.L15L													.	.			0			c.G45A												40.0	46.0	44.0					8																	110374854		1929	4150	6079	SO:0001819	synonymous_variant	93035	exon1			TGGGCTGCTCCTG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.45G>A	8.37:g.110374854G>A			Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	83	0.05	4	NM_177531	0		0	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																					0.642	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381017.1		NM_177531	
PTP4A3	11156	broad.mit.edu	37	8	142444238	142444238	+	IGR	DEL	T	T	-	rs371671775		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr8:142444238delT	ENST00000521578.1	+	0	1717				CTD-3064M3.7_ENST00000606664.1_RNA|MROH5_ENST00000430863.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3						peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GTTGGGGGGGTGGGGGGTGGG	0.637																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	389690	.			GGGGGGTGGGGGG	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365			8.37:g.142444238delT			Somatic	16	0.0625	1		WXS	Illumina HiSeq	Phase_I	27	0.26	7	.	0		0	Q8IVN5|Q99849|Q9BTW5	RNA	DEL	ENST00000521578.1	37	CCDS6383.1																																																																																					0.637	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378977.1		NM_032611	
AQP7	364	bcgsc.ca	37	9	33385740	33385740	+	Missense_Mutation	SNP	A	A	T	rs201773300		TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:33385740A>T	ENST00000537089.1	-	6	692	c.374T>A	c.(373-375)cTt>cAt	p.L125H	AQP7_ENST00000377425.4_Missense_Mutation_p.L160H|AQP7_ENST00000541274.1_Silent_p.P85P|AQP7_ENST00000539936.1_Missense_Mutation_p.L217H			O14520	AQP7_HUMAN	aquaporin 7	217					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTTCATGCCAAGGGACACCCC	0.587																																					p.L217H													.	AQP7	58		0			c.T650A												118.0	110.0	113.0					9																	33385740		2203	4300	6503	SO:0001583	missense	364	exon7			ATGCCAAGGGACA	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.374T>A	9.37:g.33385740A>T	ENSP00000441619:p.Leu125His		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_1	30	0.23	7	NM_001170	0		0	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	a	10.26	1.301442	0.23736	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.04	3.88	0.44766	Aquaporin-like (2);	0.174799	0.45867	D	0.000332	T	0.79464	0.4450	.	.	.	0.43043	D	0.994634	B;B;B;B	0.15719	0.014;0.006;0.008;0.004	B;B;B;B	0.23852	0.049;0.049;0.03;0.044	T	0.74144	-0.3760	9	0.49607	T	0.09	-3.8382	9.381	0.38313	0.8402:0.0:0.0:0.1598	.	216;217;160;217	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	H	125;216;85;217;160;125;216;217;153	ENSP00000441619:L125H;ENSP00000368821:L216H;ENSP00000412868:L85H;ENSP00000297988:L217H;ENSP00000396111:L160H;ENSP00000410138:L125H;ENSP00000368820:L216H;ENSP00000439534:L217H;ENSP00000368817:L153H	ENSP00000297988:L217H	L	-	2	0	AQP7	33375740	1.000000	0.71417	0.043000	0.18650	0.009000	0.06853	8.795000	0.91872	0.918000	0.36919	0.449000	0.29647	CTT			0.587	AQP7-202	KNOWN	basic	protein_coding	protein_coding				NM_001170	
TMEM8B	51754	broad.mit.edu;mdanderson.org	37	9	35846298	35846298	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:35846298G>T	ENST00000377991.4	+	9	1432	c.417G>T	c.(415-417)agG>agT	p.R139S	TMEM8B_ENST00000439587.2_Missense_Mutation_p.R139S|TMEM8B_ENST00000377988.2_Missense_Mutation_p.R139S|TMEM8B_ENST00000377996.1_Missense_Mutation_p.R139S|TMEM8B_ENST00000473947.1_3'UTR	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	139					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCACCACCAGGGTTGCCAGGC	0.677																																					p.R139S													.	TMEM8B	53		0			c.G417T												40.0	45.0	43.0					9																	35846298		2203	4300	6503	SO:0001583	missense	51754	exon8			CACCAGGGTTGCC	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.417G>T	9.37:g.35846298G>T	ENSP00000367230:p.Arg139Ser		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	78	0.05	4	NM_001042590	10	0.00	0	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	G	4.006	-0.001477	0.07819	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.42513	0.97;0.97;0.99;0.99	5.45	-2.87	0.05700	.	0.300958	0.37095	N	0.002259	T	0.14442	0.0349	N	0.12961	0.28	0.09310	N	1	B;B	0.27791	0.0;0.189	B;B	0.25140	0.0;0.058	T	0.23013	-1.0200	10	0.07990	T	0.79	-5.2984	1.9911	0.03446	0.4799:0.1238:0.2765:0.1199	.	139;503	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	S	139	ENSP00000367235:R139S;ENSP00000395810:R139S;ENSP00000367230:R139S;ENSP00000367227:R139S	ENSP00000367227:R139S	R	+	3	2	TMEM8B	35836298	0.808000	0.29022	0.854000	0.33618	0.063000	0.16089	0.122000	0.15687	-0.425000	0.07371	-1.138000	0.01928	AGG			0.677	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052388.2		NM_016446	
FKBP15	23307	mdanderson.org	37	9	115955813	115955813	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:115955813T>C	ENST00000238256.3	-	11	1141	c.1024A>G	c.(1024-1026)Acc>Gcc	p.T342A		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	342					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTAGATTTGGTACGAAGAGCT	0.383																																					p.T342A													.	.			0			c.A1024G												69.0	65.0	66.0					9																	115955813		1884	4101	5985	SO:0001583	missense	23307	exon11			ATTTGGTACGAAG	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1024A>G	9.37:g.115955813T>C	ENSP00000238256:p.Thr342Ala		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_015258	21	0.05	1	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	T	2.710	-0.268994	0.05716	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.27557	2.09;2.1;1.66	5.39	-3.85	0.04243	.	.	.	.	.	T	0.06872	0.0175	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31475	-0.9942	9	0.02654	T	1	0.4618	4.6338	0.12514	0.5121:0.2177:0.0:0.2701	.	342;342;342	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	A	367;342;367	ENSP00000416158:T367A;ENSP00000238256:T342A;ENSP00000415733:T367A	ENSP00000238256:T342A	T	-	1	0	FKBP15	114995634	0.002000	0.14202	0.183000	0.23137	0.971000	0.66376	-0.467000	0.06664	-0.875000	0.04022	0.524000	0.50904	ACC			0.383	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_015258	
SEC16A	9919	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139360565	139360565	+	Silent	SNP	A	A	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chr9:139360565A>G	ENST00000371706.3	-	6	3651	c.3618T>C	c.(3616-3618)aaT>aaC	p.N1206N	SEC16A_ENST00000313050.7_Silent_p.N1384N|SEC16A_ENST00000431893.2_Silent_p.N1206N|SEC16A_ENST00000290037.6_Silent_p.N1206N			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1206	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CGGCAGCCACATTGTGGCTTC	0.517																																					p.N1384N													.	SEC16A	249		0			c.T4152C												38.0	47.0	44.0					9																	139360565		1992	4174	6166	SO:0001819	synonymous_variant	9919	exon8			AGCCACATTGTGG	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3618T>C	9.37:g.139360565A>G			Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	42	0.10	4	NM_014866	49	0.10	5	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	A	0.657	-0.807262	0.02819	.	.	ENSG00000148396	ENST00000433860	.	.	.	5.76	-7.37	0.01412	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37753	-0.9692	4	.	.	.	-0.1187	11.4127	0.49935	0.2599:0.102:0.6381:0.0	.	.	.	.	R	81	.	.	C	-	1	0	SEC16A	138480386	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.826000	0.04429	-1.243000	0.02519	-0.274000	0.10170	TGT			0.517	SEC16A-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000055077.1		XM_088459	
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					p.E184D	Melanoma(171;120 2705 19495 39241)												.	RBM10	117		0			c.G552T												20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241	exon4			GGAGGAGGATGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp		Somatic	68	0.0147058824	1		WXS	Illumina HiSeq	Phase_I	59	0.05	3	NM_001204468	13	0.00	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG			0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676	
FGD1	2245	broad.mit.edu	37	X	54496515	54496515	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chrX:54496515C>G	ENST00000375135.3	-	4	1768	c.1035G>C	c.(1033-1035)gaG>gaC	p.E345D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	345					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcctcctcgtcgtcct	0.622																																					p.E345D													.	FGD1	99		0			c.G1035C												37.0	33.0	34.0					X																	54496515		2203	4300	6503	SO:0001583	missense	2245	exon4			CTCCTCCTCGTCG	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1035G>C	X.37:g.54496515C>G	ENSP00000364277:p.Glu345Asp		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	141	0.03	4	NM_004463	187	0.00	0	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280250	0.23392	.	.	ENSG00000102302	ENST00000375135	T	0.66099	-0.19	5.62	-4.14	0.03892	.	0.000000	0.40640	N	0.001048	T	0.27169	0.0666	N	0.08118	0	0.30639	N	0.7567	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12268	-1.0554	10	0.14656	T	0.56	-9.3258	2.6642	0.05035	0.1004:0.1753:0.3458:0.3785	.	103;345	B4DS99;P98174	.;FGD1_HUMAN	D	345	ENSP00000364277:E345D	ENSP00000364277:E345D	E	-	3	2	FGD1	54513240	0.961000	0.32948	0.753000	0.31225	0.949000	0.60115	-0.571000	0.05889	-0.536000	0.06298	-0.343000	0.07986	GAG			0.622	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056801.1		NM_004463	
ZFP92	139735	mdanderson.org	37	X	152686627	152686627	+	Silent	SNP	C	C	T			TCGA-2G-AAF4-01A-11D-A42Y-10	TCGA-2G-AAF4-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b199d9a-a374-40f2-b783-8c912c10f786	b9650297-8941-4502-85c8-575ad0558122	g.chrX:152686627C>T	ENST00000338647.5	+	4	793	c.792C>T	c.(790-792)taC>taT	p.Y264Y	U82695.10_ENST00000569962.1_lincRNA	NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						AGCGGCCCTACGCGTGCCCAG	0.731																																					p.Y264Y													.	.			0			c.C792T												19.0	17.0	17.0					X																	152686627		691	1585	2276	SO:0001819	synonymous_variant	139735	exon4			GCCCTACGCGTGC	U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.792C>T	X.37:g.152686627C>T			Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_001136273	0		0		Silent	SNP	ENST00000338647.5	37	CCDS59177.1																																																																																					0.731	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000332220.2			
