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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MED24	9862	broad.mit.edu	37	17	38188975	38188975	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:38188975G>C	uc002hts.3	-	7	1138	c.938C>G	c.(937-939)gCt>gGt	p.A313G	MED24_uc010wes.2_Missense_Mutation_p.A148G|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Missense_Mutation_p.A288G|MED24_uc002htu.3_Missense_Mutation_p.A275G|MED24_uc010cwn.3_Missense_Mutation_p.A275G|MED24_uc010weu.2_Missense_Mutation_p.A198G|MED24_uc010wev.1_Missense_Mutation_p.A238G|MED24_uc010wew.1_Missense_Mutation_p.A217G|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Missense_Mutation_p.A129G|MED24_uc010wfa.1_Missense_Mutation_p.A257G|MED24_uc010wfb.1_Missense_Mutation_p.A300G	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	288					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACGAAGCAAGCTTTCCAGAT	0.577000														63			30		0	0	0.003755	0	0
SLFN5	162394	broad.mit.edu	37	17	33586549	33586549	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:33586549C>T	uc002hjf.4	+	1	957	c.840C>T	c.(838-840)ttC>ttT	p.F280F	SLFN5_uc002hje.3_Silent_p.F280F|SLFN5_uc010wcg.2_Silent_p.F280F	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	280					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TCCTTAACTTCCTTGAAGTGC	0.473000														98			47		0	0	0.003610	0	0
OR51E2	81285	broad.mit.edu	37	11	4703846	4703846	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:4703846G>A	uc001lzk.2	-	1	340	c.96C>T	c.(94-96)tcC>tcT	p.S32S	OR51E2_uc021qcr.1_Silent_p.S32S	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTACATACATGGAAAGGAGGG	0.498000														37			21		0	0	0.012319	0	0
CTNND2	1501	broad.mit.edu	37	5	11565169	11565169	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:11565169C>T	uc003jfa.1	-	3	320	c.175_splice	c.e3-1	p.E59_splice	CTNND2_uc010itt.2_Splice_Site|CTNND2_uc011cmy.1_Splice_Site|CTNND2_uc011cmz.1_Splice_Site|CTNND2_uc010itu.1_Splice_Site	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	59					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGTAATTCCTGAAAGAAAC	0.473000														21			10		0	0	0.008291	0	0
HBD	3045	broad.mit.edu	37	11	5255401	5255401	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:5255401G>A	uc001maf.1	-	1	330	c.135C>T	c.(133-135)tcC>tcT	p.S45S		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	45					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCCCAAAGGACTCAAAGA	0.527000														62			28		0	0	0.008361	0	0
PRAM1	84106	broad.mit.edu	37	19	8564455	8564455	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8564455G>A	uc002mkd.3	-	1	300	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	127	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCTTCTTGGGGAGGTCAGTGA	0.667000														158			9		0	0	0.007835	0	0
ZMYM3	9203	broad.mit.edu	37	X	70468049	70468049	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:70468049G>A	uc004dzh.2	-	10	2117	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.L646L|ZMYM3_uc004dzj.2_Silent_p.L646L	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	646					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGCTGAATCGGAGTTTCTCAT	0.547000														20			6		0	0	0.001984	0	0
TRIM9	114088	broad.mit.edu	37	14	51464813	51464813	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:51464813C>T	uc001wyx.4	-	6	2323	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	TRIM9_uc001wyy.2_Missense_Mutation_p.G516R|TRIM9_uc001wyz.4_Missense_Mutation_p.G520R	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	520	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GGGCTGACTCCTGTTTTGTTG	0.537000														21			20		0	0	0.008871	0	0
ADH1C	126	broad.mit.edu	37	4	100261813	100261813	+	RNA	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:100261813C>T	uc021xqi.1	-	6		c.968G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGGAGGTACCCCTACAATG	0.458000														131			69		0	0	0.003610	0	0
BMP3	651	broad.mit.edu	37	4	81967316	81967316	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:81967316C>T	uc003hmg.4	+	1	1061	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	247					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.A247S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCAATGATGCCGCCATTTCTG	0.483000														72			43		0	0	0.008740	0	0
CELSR3	1951	broad.mit.edu	37	3	48677265	48677265	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:48677265G>A	uc003cuf.1	-	35	10047	c.10047C>T	c.(10045-10047)gcC>gcT	p.A3349A	CELSR3_uc010hkf.3_Silent_p.A541A|CELSR3_uc010hkg.3_Silent_p.A1234A|CELSR3_uc003cul.3_Silent_p.A3251A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3251					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTTGAAAGAGGCAAGGATGG	0.607000														97			44		0	0	0.007835	0	0
CACNA1C	775	broad.mit.edu	37	12	2224481	2224481	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:2224481G>A	uc009zdu.1	+	1	454	c.141G>A	c.(139-141)ggG>ggA	p.G47G	CACNA1C_uc001qkc.2_Silent_p.G47G|CACNA1C_uc001qjz.2_Silent_p.G47G|CACNA1C_uc001qkd.2_Silent_p.G47G|CACNA1C_uc001qke.2_Silent_p.G47G|CACNA1C_uc001qkf.2_Silent_p.G47G|CACNA1C_uc009zdw.1_Silent_p.G47G|CACNA1C_uc001qkg.2_Silent_p.G47G|CACNA1C_uc001qkh.2_Silent_p.G47G|CACNA1C_uc001qkl.2_Silent_p.G47G|CACNA1C_uc001qkj.2_Silent_p.G47G|CACNA1C_uc001qkk.2_Silent_p.G47G|CACNA1C_uc001qkn.2_Silent_p.G47G|CACNA1C_uc001qkm.2_Silent_p.G47G|CACNA1C_uc001qko.2_Silent_p.G47G|CACNA1C_uc001qkp.2_Silent_p.G47G|CACNA1C_uc001qkq.2_Silent_p.G47G|CACNA1C_uc001qku.2_Silent_p.G47G|CACNA1C_uc001qkr.2_Silent_p.G47G|CACNA1C_uc001qks.2_Silent_p.G47G|CACNA1C_uc001qkt.2_Silent_p.G47G|CACNA1C_uc009zdv.1_Silent_p.G47G|CACNA1C_uc001qkb.2_Silent_p.G47G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	47					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACCCCGGGGGCTGCCCTGT	0.677000														7			5		0	0	0.000602	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566849	103566849	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:103566849G>A	uc001ymk.3	+	0	369	c.293G>A	c.(292-294)gGc>gAc	p.G98D		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	98										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCAGCTACCGGCCATTCCCAG	0.632000														28			3		0	0	0.009096	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053600	106053600	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:106053600C>T	uc001yrt.3	-	3	746	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GTCAGCGTCACCAGCTCGTTC	0.667000														28			11		0	0	0.002450	0	0
PPT1	5538	broad.mit.edu	37	1	40539851	40539851	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:40539851C>T	uc001cfb.2	-	8	1035	c.803G>A	c.(802-804)cGc>cAc	p.R268H	PPT1_uc010ojf.1_Missense_Mutation_p.R194H|PPT1_uc010ojg.1_Missense_Mutation_p.R165H|PPT1_uc009vwa.2_Non-coding_Transcript	NM_000310	NP_000301	P50897	PPT1_HUMAN	Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA.	268					DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGCCCCAGGCGGTCCTGCAG	0.403000														60			4		0	0	0.001168	0	0
ERC2	26059	broad.mit.edu	37	3	56173549	56173549	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:56173549G>A	uc021wzo.1	-	4	1601	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	ERC2_uc003dhr.1_Silent_p.I487I	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	487						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGTCTGAAGGATGGCAGCCC	0.433000														30			14		0	0	0.004990	0	0
COL15A1	1306	broad.mit.edu	37	9	101817395	101817395	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:101817395G>A	uc004azb.1	+	32	3249	c.3043G>A	c.(3043-3045)Gat>Aat	p.D1015N		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1015	Nonhelical region 7 (NC7).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCTCCACTTGATCTAGCTTA	0.353000														38			60		0	0	0.003610	0	0
TTC21A	199223	broad.mit.edu	37	3	39151626	39151626	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:39151626C>T	uc003cjc.2	+	2	441	c.264C>T	c.(262-264)atC>atT	p.I88I	GORASP1_uc003civ.1_5'Flank|GORASP1_uc003ciw.1_5'Flank|GORASP1_uc003cix.1_5'Flank|GORASP1_uc003ciy.1_5'Flank|GORASP1_uc011ayw.1_5'Flank|GORASP1_uc003ciz.1_5'Flank|TTC21A_uc003cja.3_Silent_p.I88I|TTC21A_uc010hho.2_Intron|TTC21A_uc003cjb.3_Intron|TTC21A_uc011ayx.1_Silent_p.I88I|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	88							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GATGTGAAATCATTGGTGAGT	0.557000														30			19		0	0	0.007413	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814337	106814337	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:106814337C>T	uc003ymd.3	+	7	2050	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	ZFPM2_uc011lhs.2_Missense_Mutation_p.P407L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAGTGTCCCCTTAGTGGAT	0.428000														17			19		0	0	0.007413	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575810	120575810	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:120575810G>A	uc001txo.3	-	47	6301	c.6288C>T	c.(6286-6288)ttC>ttT	p.F2096F		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2096					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGACGAAAGGAAAGCCAGCA	0.577000														20			6		0	0	0.001168	0	0
XIRP1	165904	broad.mit.edu	37	3	39226215	39226215	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:39226215G>A	uc003cjk.2	-	1	4951	c.4722C>T	c.(4720-4722)ttC>ttT	p.F1574F	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.F257F|XIRP1_uc021wvz.1_Silent_p.F1574F	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1574							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGGTCCCTGGAAATGGCCTC	0.587000														85			57		0	0	0.003610	0	0
RAD21	5885	broad.mit.edu	37	8	117866524	117866524	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:117866524G>A	uc003yod.3	-	8	1409	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	374	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGCAGGTAAAGAAAACAGTTT	0.348000														29			38		0	0	0.007835	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724205	140724205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:140724205G>A	uc003ljm.2	+	0	605	c.605G>A	c.(604-606)cGt>cAt	p.R202H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R202H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R202H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGTGAGAAAAAA	0.537000														49			27		0	0	0.005443	0	0
RFX6	222546	broad.mit.edu	37	6	117250035	117250035	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:117250035C>T	uc003pxm.3	+	17	2575	c.2512C>T	c.(2512-2514)Cac>Tac	p.H838Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	838					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGTGACATCCACGATCCACT	0.473000														52			29		0	0	0.005443	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872096	51872096	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:51872096C>T	uc002xwo.3	+	1	2986	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	TSHZ2_uc021wex.1_Missense_Mutation_p.S697F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	700					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCCCTGCAGTCCGTCCTGAAC	0.612000														31			16		0	0	0.004007	0	0
CRISP3	10321	broad.mit.edu	37	6	49703299	49703299	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:49703299C>T	uc021zai.1	-	3	352	c.264G>A	c.(262-264)tgG>tgA	p.W88*	CRISP3_uc003ozs.3_Nonsense_Mutation_p.W78*	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	65					innate immune response	proteinaceous extracellular matrix|specific granule		p.K88N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCTCTTTGTTCCATTCCTGAA	0.378000														57			37		0	0	0.006230	0	0
XPOT	11260	broad.mit.edu	37	12	64828325	64828325	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:64828325C>T	uc001ssb.3	+	19	2997	c.2491C>T	c.(2491-2493)Caa>Taa	p.Q831*		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	831	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.Q831R(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TACTGTTATCCAAGGAGCAGT	0.353000														43			15		0	0	0.002450	0	0
MAGED1	9500	broad.mit.edu	37	X	51639952	51639952	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:51639952C>T	uc004dpn.3	+	4	1559	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	MAGED1_uc004dpm.3_Missense_Mutation_p.P401S|MAGED1_uc004dpo.3_Missense_Mutation_p.P401S	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	401					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGGCAAGGTCCTCCTGACTG	0.647000										Multiple Myeloma(10;0.10)				13			5		0	0	0.000602	0	0
LRRC28	123355	broad.mit.edu	37	15	99874192	99874192	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:99874192C>T	uc002bva.1	+	5	605	c.450C>T	c.(448-450)ccC>ccT	p.P150P	LRRC28_uc010urs.1_Intron|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_Intron|LRRC28_uc002bvc.1_Silent_p.P150P|LRRC28_uc010uru.1_Intron|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	150										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TAACTTTACCCGAGAGGCTTC	0.478000														48			29		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	8969339	8969339	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8969339G>A	uc002mkp.3	-	78	43209	c.43005C>T	c.(43003-43005)tcC>tcT	p.S14335S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1135S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14431	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CTTTGTCCTGGGAATATGGTA	0.473000														56			43		0	0	0.009718	0	0
LIFR	3977	broad.mit.edu	37	5	38482701	38482701	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:38482701C>T	uc010ive.1	-	18	2992	c.2660G>A	c.(2659-2661)aGt>aAt	p.S887N	LIFR_uc003jli.2_Missense_Mutation_p.S887N	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	887					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTCACAGACACTCTTTTGAAA	0.259000			T	PLAG1	salivary adenoma									38			13		0	0	0.004007	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564501	66564501	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:66564501G>A	uc002lkk.2	+	7	1322	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	CCDC102B_uc002lki.2_Missense_Mutation_p.E367K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E367K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	367										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGACAAGAGGGAAATACTTGA	0.403000														67			32		0	0	0.003755	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226673	1226673	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:1226673C>T	uc001adt.1	+	17	2318	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	SCNN1D_uc001adu.1_Silent_p.L534L|SCNN1D_uc001adw.2_Silent_p.L600L|SCNN1D_uc001adv.2_Silent_p.L534L|SCNN1D_uc001adx.2_Silent_p.L323L	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCTGCAGCCTGTGGTTTGG	0.726000														2			9		0	0	0.004482	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266137	41266137	+	Missense_Mutation	SNP	C	G	G	rs121913409		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:41266137C>G	uc010hia.1	+	3	290	c.134C>G	c.(133-135)tCt>tGt	p.S45C	CTNNB1_uc003ckq.2_Missense_Mutation_p.S45C|CTNNB1_uc003ckp.2_Missense_Mutation_p.S45C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45C|CTNNB1_uc011azf.1_Missense_Mutation_p.S38C|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45F(830)|p.S45P(194)|p.S45del(137)|p.A5_A80del(119)|p.S45Y(43)|p.S45C(42)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.S45A(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.P44A(9)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.S45_S47>C(4)|p.P44_S45del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.P44S(4)|p.P44L(3)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45fs*2(2)|p.S45E(2)|p.A21_A80del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.S45_G48del(2)|p.V22_L139>V(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.P16_K133del(2)|p.T40_L46del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.P44del(1)|p.A20_Q143del(1)|p.A43_E53del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S45T(1)|p.V22_A97del(1)|p.S45S(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.P44_S45insAP(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.P44_S45insGATTTAP(1)|p.E9_I140del(1)|p.S45_E54del(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACAGCTCCTTCTCTGAGTGGT	0.498000	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					26			15		0	0	0.002450	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819825	70819826	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:70819825_70819826GG>AA	uc001dex.4	-	0	592_593	c.266_267CC>TT	c.(265-267)tcc>tTT	p.S89F	ANKRD13C_uc009wbk.3_Missense_Mutation_p.S89F|ANKRD13C_uc001dey.4_Missense_Mutation_p.S89F|HHLA3_uc010oqp.2_5'Flank|HHLA3_uc001dfb.3_5'Flank|HHLA3_uc001dfa.3_5'Flank|HHLA3_uc001dfc.3_5'Flank	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	89					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCGGGGACTGGGAGTTGGCAGT	0.673000														92			48		0	0	0.004672	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559405	44559405	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:44559405C>T	uc002lcr.1	-	0	2584	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron|TCEB3C_uc010xdb.2_5'Flank	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	744					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTGTAGTCTCGAATTGCCTT	0.557000														106			51		0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41160458	41160458	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:41160458G>A	uc003jmk.2	-	10	1680	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	C6_uc003jml.1_Silent_p.I490I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	490	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAAGTCCACGATGGGGGCAA	0.498000														43			16		0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21232960	21232960	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:21232960G>A	uc002red.3	-	25	6908	c.6780C>T	c.(6778-6780)atC>atT	p.I2260I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2260					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTGTATCTGGATTCTGATTT	0.343000														142			223		0	0	0.003610	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														46			5		0	0	0.000602	0	0
TPRG1L	127262	broad.mit.edu	37	1	3542430	3542430	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:3542430G>A	uc001akm.3	+	2	528	c.447G>A	c.(445-447)caG>caA	p.Q149Q	TPRG1L_uc009vlj.3_Intron	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA.	149						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAGAATTCCAGTTTCCCCCTA	0.488000														12			19		0	0	0.006122	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249418	123249418	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:123249418G>C	uc003ieh.3	+	63	11200	c.11155G>C	c.(11155-11157)Gat>Cat	p.D3719H	KIAA1109_uc003iem.3_Missense_Mutation_p.D110H	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3719					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGGCCGACGGGATGACAGTTT	0.438000														51			31		0	0	0.003271	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715029	92715029	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:92715029G>A	uc001pdk.1	+	1	743	c.640G>A	c.(640-642)Gct>Act	p.A214T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	214					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCTCCCTATCGCTGTCGTGTC	0.612000														133			111		0	0	0.003610	0	0
AMPD1	270	broad.mit.edu	37	1	115221019	115221019	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:115221019C>T	uc001efe.2	-	7	1174	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	AMPD1_uc001eff.2_Missense_Mutation_p.E372K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	343	Substrate binding (By similarity).				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.N376N(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCAAAAAGTTCCTTTAGGGTC	0.378000														44			24		0	0	0.003330	0	0
OR8D4	338662	broad.mit.edu	37	11	123777609	123777609	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:123777609G>A	uc010saa.2	+	0	471	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156T(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTGATGCTGTGATCCATGGAG	0.468000														89			61		0	0	0.003610	0	0
DSG2	1829	broad.mit.edu	37	18	29102174	29102174	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:29102174G>A	uc002kwu.4	+	5	840	c.652G>A	c.(652-654)Gga>Aga	p.G218R		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	218	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TAAAGATACAGGAGAGATTTA	0.393000														32			19		0	0	0.010504	0	0
STX17	55014	broad.mit.edu	37	9	102730754	102730754	+	Silent	SNP	T	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:102730754T>G	uc004bal.4	+	7	844	c.708T>G	c.(706-708)ggT>ggG	p.G236G	STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	236					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CTGTGGCAGGTGCACTCATCG	0.488000														5			4		0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34006741	34006741	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:34006741G>A	uc001bxm.1	-	58	9623	c.9446C>T	c.(9445-9447)cCc>cTc	p.P3149L	CSMD2_uc001bxn.1_Missense_Mutation_p.P3005L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3121	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTGCAGACGGGCTTGGTTCC	0.498000														37			38		0	0	0.011902	0	0
APC	324	broad.mit.edu	37	5	112174732	112174732	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:112174732C>T	uc003kpz.4	+	16	3634	c.3441C>T	c.(3439-3441)taC>taT	p.Y1147Y	APC_uc011cvt.2_Silent_p.Y1129Y|APC_uc003kpy.4_Silent_p.Y1147Y|APC_uc010jbz.3_Silent_p.Y864Y|APC_uc010jca.3_Silent_p.Y447Y	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1147	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R1146fs*21(1)|p.N1142fs*5(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTGAACGTTACTCTGAAGAAG	0.343000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				26			13		0	0	0.001855	0	0
ZNF676	163223	broad.mit.edu	37	19	22363885	22363885	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:22363885G>A	uc002nqs.1	-	2	952	c.634C>T	c.(634-636)Ctt>Ttt	p.L212F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	212				KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTTAGTAAGGATTGAGAAC	0.353000														28			14		0	0	0.001855	0	0
SHANK1	50944	broad.mit.edu	37	19	51201136	51201136	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:51201136C>T	uc002psx.1	-	11	1844	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	609	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCACTTCTTCCAGGCAGTCA	0.567000														23			12		0	0	0.002450	0	0
ARC	23237	broad.mit.edu	37	8	143695445	143695445	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:143695445C>T	uc022bca.1	-	0	188	c.188G>A	c.(187-189)gGg>gAg	p.G63E	ARC_uc003ywn.1_Missense_Mutation_p.G63E	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	63					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCGGTGCAGCCCCTTCAGCTC	0.682000														17			6		0	0	0.003080	0	0
PSG7	5676	broad.mit.edu	37	19	43439606	43439606	+	Missense_Mutation	SNP	C	T	T	rs146684607	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:43439606C>T	uc002ovl.4	-	2	479	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	127	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				CCCATCACCTCGCTTTATGAT	0.493000														358			107		0	0	0.003610	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68956357	68956357	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:68956357C>T	uc003hdt.1	-	2	215	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	56	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AAAGACTTATCATCTGAAAGG	0.333000														37			21		0	0	0.003330	0	0
PTPRB	5787	broad.mit.edu	37	12	70954554	70954554	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:70954554C>T	uc001swb.4	-	14	3705	c.3675G>A	c.(3673-3675)acG>acA	p.T1225T	PTPRB_uc010sto.2_Silent_p.T1135T|PTPRB_uc010stp.2_Silent_p.T1135T|PTPRB_uc001swc.4_Silent_p.T1443T|PTPRB_uc001swa.4_Silent_p.T1355T|PTPRB_uc001swd.4_Silent_p.T1442T|PTPRB_uc009zrr.2_Silent_p.T1322T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1225	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T1225K(1)|p.L1224P(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGCCACTCCGTCAGGTCCT	0.488000														30			11		0	0	0.001368	0	0
NAA25	80018	broad.mit.edu	37	12	112492209	112492209	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:112492209G>A	uc001ttm.3	-	13	1669	c.1611C>T	c.(1609-1611)atC>atT	p.I537I	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.I509I|NAA25_uc009zwa.2_Silent_p.I537I	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	537						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TATCATGCTGGATATGCTTAG	0.433000														42			17		0	0	0.004007	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	83420	83420	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrGL000209.1:83420C>T	uc002qui.2	+	6	1063	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.P348L|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.P256L|KIR2DL2_uc010evh.1_Missense_Mutation_p.P244L|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	256					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTCAAAATCCCTTTCACCATC	0.488000														8			27		0	0	0.007291	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342294	60342294	+	RNA	SNP	A	C	C	rs76100965		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:60342294A>C	uc010woz.2	-	13		c.1835T>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TAAGTTTAACAAAAAATAAAA	0.483000														119			5		0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274114	10274114	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:10274114C>T	uc010uym.2	-	2	465	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	GRIN2A_uc002czo.4_Missense_Mutation_p.R52Q|GRIN2A_uc002czr.4_Missense_Mutation_p.R52Q|GRIN2A_uc010buk.3_Missense_Mutation_p.R52Q	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	52					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R52*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACAGTGTTCGAAGTTCGCG	0.682000														82			36		0	0	0.008740	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671784	176671784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:176671784C>T	uc001gkz.3	+	8	4442	c.3278C>T	c.(3277-3279)gCt>gTt	p.A1093V	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1093					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L1092I(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAGTTCTAGCTGAAGCTGGA	0.507000														44			21		0	0	0.012319	0	0
HERC2	8924	broad.mit.edu	37	15	28519439	28519439	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:28519439C>T	uc001zbj.3	-	6	904	c.798G>A	c.(796-798)acG>acA	p.T266T	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	266					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACTCACCCCGTCACGACGG	0.577000														16			9		0	0	0.006214	0	0
GPR123	84435	broad.mit.edu	37	10	134910573	134910573	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:134910573G>A	uc001llw.3	+	11	2259	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	GPR123_uc001llx.4_Silent_p.L33L			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	33						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCTGCCTCCTGGCCTCCTTCG	0.622000														26			25		0	0	0.003954	0	0
CNR1	1268	broad.mit.edu	37	6	88854925	88854925	+	Silent	SNP	C	T	T	rs144795421		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:88854925C>T	uc010kbz.3	-	1	199	c.69G>A	c.(67-69)gtG>gtA	p.V23V	CNR1_uc011dzr.2_Silent_p.V23V|CNR1_uc011dzs.2_Silent_p.V23V|CNR1_uc003pmq.4_Silent_p.V23V|CNR1_uc011dzt.2_Silent_p.V23V|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Silent_p.V23V	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	23					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.V23M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CATTTGAGCCCACGTACAGGA	0.463000														89			36		0	0	0.006230	0	0
LOC442459	442459	broad.mit.edu	37	X	98975143	98975143	+	RNA	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:98975143C>T	uc011mrd.1	-	7		c.1200G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		AAAGCTGGTTCATCAAACCAT	0.488000														13			5		0	0	0.001168	0	0
OR4C15	81309	broad.mit.edu	37	11	55321908	55321908	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:55321908G>A	uc010rig.2	+	0	126	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTATACATGATCCCTGTTG	0.373000										HNSCC(20;0.049)				74			45		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8486162	8486162	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:8486162G>A	uc003zkk.3	-	27	3398	c.2655C>T	c.(2653-2655)atC>atT	p.I885I	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	885	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCCCTTGTGGATGTCTGTAG	0.463000										TSP Lung(15;0.13)				18			20		0	0	0.012319	0	0
VPS41	27072	broad.mit.edu	37	7	38813801	38813801	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:38813801G>A	uc003tgy.3	-	11	952	c.926C>T	c.(925-927)cCa>cTa	p.P309L	VPS41_uc003tgz.3_Missense_Mutation_p.P284L|VPS41_uc010kxn.3_Missense_Mutation_p.P220L	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	309					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTCAGAAAGTGGCTGGATGAT	0.378000														121			79		0	0	0.003610	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000789	41000789	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:41000789C>A	uc003jmj.4	-	37	4831	c.4341G>T	c.(4339-4341)aaG>aaT	p.K1447N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.K1002N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1447							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAACTCCAATCTTGGGGTTGG	0.488000														13			9		1.12685e-05	1.14909e-05	0.004482	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43846162	43846162	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:43846162T>C	uc010skx.2	-	13	1994	c.1994A>G	c.(1993-1995)tAt>tGt	p.Y665C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	665	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGGTAGAAATAATTGGTTCC	0.338000														34			22		0	0	0.012319	0	0
NWD1	284434	broad.mit.edu	37	19	16902356	16902356	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:16902356G>A	uc002neu.4	+	13	3558	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	NWD1_uc002net.4_Missense_Mutation_p.E911K|NWD1_uc002nev.4_Missense_Mutation_p.E840K|NWD1_uc021uqg.1_Missense_Mutation_p.E911K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1046							ATP binding	p.G1046R(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATCAAAGAAGAAACACCTAC	0.502000														44			32		0	0	0.002836	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180077	74180077	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:74180077G>A	uc002avz.3	+	9	977	c.894_splice	c.e9+1	p.L298_splice	TBC1D21_uc010ulc.2_Splice_Site_p.L262_splice	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	298						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACATCCTCCTGGTGAGAGCAC	0.652000														45			22		0	0	0.002299	0	0
KPRP	448834	broad.mit.edu	37	1	152732718	152732718	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:152732718C>T	uc001fal.1	+	1	712	c.654C>T	c.(652-654)ttC>ttT	p.F218F	KPRP_uc021ozf.1_Silent_p.F218F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	218						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGCTGTTTCCCTCAGTATC	0.572000														103			52		0	0	0.003610	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727171	25727171	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:25727171C>T	uc003nfd.3	+	0	35	c.35C>T	c.(34-36)tCc>tTc	p.S12F	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	12					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						GCTACCATTTCCAAGAAGGGC	0.453000														54			22		0	0	0.003954	0	0
HIP1	3092	broad.mit.edu	37	7	75178284	75178284	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:75178284C>T	uc003uds.2	-	22	2356	c.2311G>A	c.(2311-2313)Gga>Aga	p.G771R	HIP1_uc011kfz.2_Missense_Mutation_p.G771R	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	771	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATGTCCAGTCCCCTGGGCAGG	0.562000			T	PDGFRB	CMML									93			46		0	0	0.009718	0	0
MECP2	4204	broad.mit.edu	37	X	153296630	153296630	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:153296630G>A	uc004fjv.2	-	3	875	c.649C>T	c.(649-651)Cct>Tct	p.P217S	MECP2_uc004fjw.2_Missense_Mutation_p.P229S	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	217					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTCCCAGGACTTTTCTCC	0.617000														174			103		0	0	0.003610	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280605	105280605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:105280605C>T	uc010npd.3	-	0	680	c.445G>A	c.(445-447)Gat>Aat	p.D149N	SERPINA7_uc004eme.2_Missense_Mutation_p.D149N|SERPINA7_uc010npe.2_Missense_Mutation_p.D149N	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	149					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGACATCATTCAAGAAC	0.428000														139			69		0	0	0.003610	0	0
FBN3	84467	broad.mit.edu	37	19	8194032	8194032	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8194032C>T	uc002mjf.3	-	16	2193	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	726	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACACTCATCCACGTCTGTG	0.652000														85			45		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179584144	179584144	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:179584144C>T	uc021vsy.1	-	79	20466	c.20241G>A	c.(20239-20241)ctG>ctA	p.L6747L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3408L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7674	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGTCTTTCAGCTTGCGGA	0.517000														30			37		0	0	0.006999	0	0
RNF17	56163	broad.mit.edu	37	13	25349022	25349022	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:25349022G>A	uc001upr.3	+	2	338	c.297G>A	c.(295-297)atG>atA	p.M99I	RNF17_uc010tdd.1_Intron|RNF17_uc010tde.2_Missense_Mutation_p.M99I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.M38I|RNF17_uc001upq.1_Missense_Mutation_p.M99I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	99					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTCCATAATGGAAAAACTGC	0.323000														20			10		0	0	0.006214	0	0
CPNE4	131034	broad.mit.edu	37	3	131306334	131306334	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:131306334C>T	uc011blq.2	-	7	938	c.828G>A	c.(826-828)ggG>ggA	p.G276G	CPNE4_uc003eok.3_Silent_p.G258G|CPNE4_uc003eol.3_Silent_p.G276G|CPNE4_uc003eom.3_Silent_p.G258G	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	258										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTACCTGTTTCCCTTCCATTG	0.453000														42			16		0	0	0.007413	0	0
CCDC135	84229	broad.mit.edu	37	16	57762339	57762339	+	Missense_Mutation	SNP	A	T	T	rs78948416		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:57762339A>T	uc002emi.3	+	15	2323	c.2234A>T	c.(2233-2235)gAg>gTg	p.E745V	CCDC135_uc002emj.3_Missense_Mutation_p.E745V|CCDC135_uc002emk.3_Missense_Mutation_p.E680V	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	745						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGGCAGGTGGAGACCCAGCTG	0.607000														78			31		0	0	0.002836	0	0
SMARCA4	6597	broad.mit.edu	37	19	11145739	11145739	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:11145739C>T	uc010dxp.3	+	29	4461	c.4101C>T	c.(4099-4101)ttC>ttT	p.F1367F	SMARCA4_uc010dxo.3_Silent_p.F1367F|SMARCA4_uc002mqf.4_Silent_p.F1367F|SMARCA4_uc010dxq.3_Silent_p.F1334F|SMARCA4_uc010dxr.3_Silent_p.F1334F|SMARCA4_uc002mqj.4_Silent_p.F1334F|SMARCA4_uc010dxs.3_Silent_p.F1334F|SMARCA4_uc010dxt.1_Silent_p.F554F|SMARCA4_uc002mqh.4_Silent_p.F457F|SMARCA4_uc002mqi.1_Silent_p.F537F	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1367					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAAGATGTTCGGCCGTGGCT	0.647000			"""F, N, Mis"""		NSCLC									16			6		0	0	0.003080	0	0
NLRP4	147945	broad.mit.edu	37	19	56373464	56373464	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:56373464G>A	uc002qmd.4	+	4	2547	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	NLRP4_uc002qmf.3_Missense_Mutation_p.D634N|NLRP4_uc010etf.3_Missense_Mutation_p.D540N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	709							ATP binding	p.R708C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTCTCTCGTGATGACATCAG	0.478000														45			85		0	0	0.003610	0	0
DACT1	51339	broad.mit.edu	37	14	59113545	59113545	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:59113545A>G	uc001xdw.3	+	3	2368	c.2204A>G	c.(2203-2205)cAc>cGc	p.H735R	DACT1_uc010trv.2_Missense_Mutation_p.H454R|DACT1_uc001xdx.3_Missense_Mutation_p.H698R|DACT1_uc010trw.2_Missense_Mutation_p.H454R	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	735					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCCCTGTTCCACTCCACCGTG	0.652000														76			30		0	0	0.012213	0	0
NRK	203447	broad.mit.edu	37	X	105189981	105189981	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:105189981G>A	uc004emd.3	+	24	4477	c.4174G>A	c.(4174-4176)Gag>Aag	p.E1392K	NRK_uc011msi.2_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1393	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAGACCAGATGAGCTCCTTCA	0.443000										HNSCC(51;0.14)				19			14		0	0	0.002450	0	0
STRN	6801	broad.mit.edu	37	2	37111155	37111155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:37111155G>A	uc002rpn.3	-	8	1115	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	STRN_uc010ezx.3_Missense_Mutation_p.S332L	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	369					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGCTGCAATGAAGGAAGTTC	0.433000														7			13		0	0	0.001368	0	0
GFRAL	389400	broad.mit.edu	37	6	55216215	55216215	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:55216215C>T	uc003pcm.1	+	4	621	c.535C>T	c.(535-537)Cct>Tct	p.P179S		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	179						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAAAATATACCTTTTAACAT	0.433000														94			42		0	0	0.011902	0	0
TJP3	27134	broad.mit.edu	37	19	3736223	3736223	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:3736223G>A	uc010xhv.2	+	9	1287	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	TJP3_uc010xhs.2_Silent_p.L396L|TJP3_uc010xht.2_Silent_p.L360L|TJP3_uc010xhu.2_Silent_p.L405L|TJP3_uc010xhw.2_Silent_p.L415L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	410	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGCGGCTGGCAGGGGGCA	0.677000														33			29		0	0	0.008361	0	0
CD5L	922	broad.mit.edu	37	1	157803140	157803140	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:157803140G>T	uc001frk.4	-	4	1024	c.881C>A	c.(880-882)tCc>tAc	p.S294Y		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	294	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCTCTGAAGGAGGGAGAGAG	0.587000														64			32		8.4185e-14	8.81668e-14	0.012213	1	0
MUC6	4588	broad.mit.edu	37	11	1017269	1017269	+	Silent	SNP	G	A	A	rs71472140		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:1017269G>A	uc001lsw.2	-	30	5583	c.5532C>T	c.(5530-5532)tcC>tcT	p.S1844S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1844	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAGGAGGTGGAGAAAGATG	0.542000														531			11		0	0	0.001855	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086817	144086817	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:144086817G>A	uc010khi.3	+	5	1313	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	PHACTR2_uc003qjq.4_Missense_Mutation_p.A361T|PHACTR2_uc010khh.3_Missense_Mutation_p.A281T|PHACTR2_uc003qjr.4_Missense_Mutation_p.A292T	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	361							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CAGCGTTGGAGCTGACCTGCC	0.567000														58			38		0	0	0.006999	0	0
MLL2	8085	broad.mit.edu	37	12	49427579	49427580	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:49427579_49427580GG>AA	uc001rta.4	-	38	10908_10909	c.10908_10909CC>TT	c.(10906-10911)ctccct>ctTTct	p.P3637S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3637	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCATGGCCAGGGAGCAGCTGAC	0.663000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				16			6		0	0	0.004672	0	0
TCEA2	6919	broad.mit.edu	37	20	62700770	62700770	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:62700770C>T	uc021wgq.1	+	4	1042	c.386C>T	c.(385-387)cCt>cTt	p.P129L	TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.P102L|TCEA2_uc010gku.2_Missense_Mutation_p.L73F	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	129					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACCACATTTCCTCCGGTGCCT	0.672000														6			10		0	0	0.006214	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335859	20335859	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:20335859G>A	uc001iqg.1	+	2	1023	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	PLXDC2_uc001iqh.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	129						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTGCCAGCCGGGATTTATGG	0.373000														66			32		0	0	0.010818	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103470286	103470286	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:103470286G>A	uc001ymi.1	-	3	658	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	142	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGTCCTGAAAGGCGTAGTGCA	0.572000														8			14		0	0	0.004007	0	0
TEX101	83639	broad.mit.edu	37	19	43922358	43922358	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:43922358G>A	uc002owk.3	+	8	1174	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	TEX101_uc010xwo.2_Missense_Mutation_p.A187T	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	187						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				AGGCTGTACAGCCATGATTGG	0.507000														66			30		0	0	0.009535	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	A	A	rs114681793	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000														39			4		0	0	0.009096	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947944	21947944	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:21947944G>A	uc010kuk.3	-	3	605	c.485C>T	c.(484-486)tCt>tTt	p.S162F	CDCA7L_uc003sve.4_Missense_Mutation_p.S128F|CDCA7L_uc010kul.3_Missense_Mutation_p.S116F|CDCA7L_uc003svf.4_Missense_Mutation_p.S161F	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	162					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTGCTCGGAAGAACTGTTTTT	0.418000														30			13		0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13809263	13809263	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:13809263C>T	uc003jfd.2	-	45	7684	c.7642G>A	c.(7642-7644)Gaa>Aaa	p.E2548K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2548					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACAGGTATTCCTGGGTACGC	0.438000									Kartagener syndrome					85			51		0	0	0.003610	0	0
FAM86EP	348926	broad.mit.edu	37	4	3945031	3945031	+	RNA	SNP	A	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:3945031A>G	uc011bvu.2	-	5		c.2051T>C			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		GCCATCTCCAAGTGCTCTTTG	0.483000														59			18		0	0	0.008871	0	0
EPGN	255324	broad.mit.edu	37	4	75174855	75174855	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:75174855C>T	uc003hic.1	+	1	136	c.89C>T	c.(88-90)cCa>cTa	p.P30L	BC016361_uc003hhv.1_Intron|EPGN_uc003hhw.3_Missense_Mutation_p.P30L|EPGN_uc003hib.1_Missense_Mutation_p.P30L|EPGN_uc003hhy.1_Missense_Mutation_p.P30L|EPGN_uc003hhz.1_Missense_Mutation_p.P30L|EPGN_uc010iin.1_Intron|EPGN_uc003hhx.1_Non-coding_Transcript|EPGN_uc003hia.1_Missense_Mutation_p.P30L			Q6UW88	EPGN_HUMAN	Homo sapiens epithelial mitogen homolog (mouse) (EPGN), mRNA.	30					activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			GTAACACCTCCAATCACAGCC	0.428000														57			33		0	0	0.003755	0	0
ABCF1	23	broad.mit.edu	37	6	30552334	30552334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:30552334C>T	uc003nql.3	+	13	1477	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	ABCF1_uc003nqk.2_Missense_Mutation_p.S462F|ABCF1_uc003nqm.3_Missense_Mutation_p.S423F	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	461	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ATGCGTGTCTCCCTGGCCAGG	0.607000														48			26		0	0	0.010818	0	0
MEFV	4210	broad.mit.edu	37	16	3299632	3299632	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:3299632G>A	uc002cun.1	-	2	1099	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	MEFV_uc021tbw.1_Silent_p.P142P|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	353					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTGGCACCGGGGGCAGCCAG	0.647000														29			11		0	0	0.008291	0	0
OTOGL	283310	broad.mit.edu	37	12	80732982	80732982	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:80732982G>A	uc001szd.3	+	41	4967	c.4961G>A	c.(4960-4962)gGa>gAa	p.G1654E		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATCTTACAGGAATCATAGAC	0.408000														142			72		0	0	0.003610	0	0
NFASC	23114	broad.mit.edu	37	1	204985617	204985617	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:204985617G>A	uc010prc.2	+	26	3702	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	NFASC_uc001hbj.3_Missense_Mutation_p.E1225K|NFASC_uc010pra.2_Missense_Mutation_p.E1159K|NFASC_uc001hbi.3_Missense_Mutation_p.E1154K|NFASC_uc010prb.2_Missense_Mutation_p.E1174K|NFASC_uc001hbl.2_Missense_Mutation_p.E301K|NFASC_uc001hbm.2_Missense_Mutation_p.E248K|NFASC_uc009xbh.2_Silent_p.T79T|NFASC_uc001hbo.2_Silent_p.T100T			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1332					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGGGCAACGAAAGCTCAGA	0.572000														46			18		0	0	0.006122	0	0
SPTBN4	57731	broad.mit.edu	37	19	41021331	41021331	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:41021331C>T	uc002ony.3	+	14	2965	c.2879C>T	c.(2878-2880)tCc>tTc	p.S960F	SPTBN4_uc002onx.3_Missense_Mutation_p.S960F|SPTBN4_uc002onz.3_Missense_Mutation_p.S960F|SPTBN4_uc010egx.3_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	960					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTGCGTTCCTGCCAGGAC	0.607000														8			8		0	0	0.003080	0	0
ZNF613	79898	broad.mit.edu	37	19	52447376	52447376	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:52447376C>T	uc002pxz.2	+	5	704	c.240C>T	c.(238-240)atC>atT	p.I80I	ZNF613_uc002pya.2_Silent_p.I44I	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I80M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCCTAGAAATCAAGAAAGTTG	0.368000														10			4		0	0	0.009096	0	0
COL4A5	1287	broad.mit.edu	37	X	107925060	107925060	+	Silent	SNP	C	T	T	rs104886404		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:107925060C>T	uc022ccg.1	+	46	4360	c.4158C>T	c.(4156-4158)atC>atT	p.I1386I	COL4A5_uc004enz.1_Silent_p.I1380I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1380	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCAGGAATCCCTGGCCAGC	0.453000									Alport syndrome with Diffuse Leiomyomatosis					43			29		0	0	0.007291	0	0
FREM1	158326	broad.mit.edu	37	9	14812992	14812992	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:14812992C>T	uc003zlm.3	-	16	3527	c.2711G>A	c.(2710-2712)gGa>gAa	p.G904E	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	904					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CACCTCTCCTCCCTCTGAGCA	0.463000														38			54		0	0	0.003610	0	0
GPR123	84435	broad.mit.edu	37	10	134906625	134906625	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:134906625G>A	uc001llw.3	+	9	1896	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	GPR123_uc001llx.4_Intron			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CACTGTGCAGGAAAGAAGGTT	0.617000														4			6		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	15	22473188	22473188	+	RNA	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:22473188G>A	uc001yuj.2	-	6		c.140C>T								Parts of antibodies, mostly variable regions.																		CACCAGTCCTGGGCCCGACTC	0.622000														109			30		0	0	0.010818	0	0
SDK1	221935	broad.mit.edu	37	7	3658864	3658864	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:3658864G>T	uc003smx.3	+	1	590	c.451G>T	c.(451-453)Gaa>Taa	p.E151*		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	151	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTACAGCAGCGAATATAAGTA	0.453000														34			12		9.05144e-12	9.38444e-12	0.001855	1	0
SRC	6714	broad.mit.edu	37	20	36022382	36022382	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:36022382C>T	uc002xgx.3	+	5	884	c.435C>T	c.(433-435)tcC>tcT	p.S145S	SRC_uc002xgy.3_Silent_p.S145S	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	145	SH3.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CCTCCGACTCCATCCAGGCTG	0.642000														14			6		0	0	0.003080	0	0
COL1A1	1277	broad.mit.edu	37	17	48267704	48267704	+	Missense_Mutation	SNP	C	T	T	rs74315133		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:48267704C>T	uc002iqm.3	-	34	2561	c.2435G>A	c.(2434-2436)gGc>gAc	p.G812D		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	812	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCAGCAAAGCCAGCAGGGCC	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							37			23		0	0	0.004656	0	0
MYO9B	4650	broad.mit.edu	37	19	17306052	17306052	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:17306052C>T	uc010eak.3	+	21	3968	c.3816C>T	c.(3814-3816)ccC>ccT	p.P1272P	MYO9B_uc002nfi.3_Silent_p.P1272P|MYO9B_uc002nfj.1_Silent_p.P1272P|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1272	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCGAGACCCCCGAGGACAAGA	0.711000														34			15		0	0	0.003163	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178115	56178115	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:56178115C>T	uc003jqw.4	+	13	3589	c.3088C>T	c.(3088-3090)Cac>Tac	p.H1030Y		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1030					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCTACAATTCCACAGAAACTG	0.448000														54			20		0	0	0.007413	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862775	9862775	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:9862775C>T	uc010uym.2	-	12	2838	c.2528G>A	c.(2527-2529)tGg>tAg	p.W843*	GRIN2A_uc002czo.4_Nonsense_Mutation_p.W843*|GRIN2A_uc010uyn.2_Nonsense_Mutation_p.W686*|GRIN2A_uc002czr.4_Nonsense_Mutation_p.W843*	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	843					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGCAGCTTCCAGTAGAAGAG	0.582000														50			26		0	0	0.004656	0	0
RAF1	5894	broad.mit.edu	37	3	12641889	12641889	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:12641889G>T	uc003bxf.4	-	7	1275	c.860C>A	c.(859-861)tCa>tAa	p.S287*	RAF1_uc011aut.2_Nonsense_Mutation_p.S72*|RAF1_uc011auu.2_Nonsense_Mutation_p.S205*	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	287					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	AAAAGTACCTGATTCGCTGTG	0.413000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					38			18		1.00905e-13	1.05321e-13	0.008871	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5240009	5240009	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:5240009G>A	uc003jdl.3	+	15	2632	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G832R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	832	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AATCGCTACTGGACCAACCAA	0.512000														80			41		0	0	0.009718	0	0
UROC1	131669	broad.mit.edu	37	3	126224812	126224812	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:126224812G>A	uc010hsi.2	-	6	699	c.645C>T	c.(643-645)ccC>ccT	p.P215P	UROC1_uc003eiz.2_Silent_p.P215P	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	215					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGATTCCCTGGGGACCGATGT	0.657000														36			28		0	0	0.006320	0	0
FUT9	10690	broad.mit.edu	37	6	96651433	96651433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:96651433G>A	uc003pop.4	+	2	743	c.402G>A	c.(400-402)atG>atA	p.M134I	FUT9_uc021zcw.1_Missense_Mutation_p.M134I	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	134					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGATTTGGATGAATTTGGAAT	0.458000														41			20		0	0	0.007413	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864512	131864512	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:131864512T>G	uc003vra.4	-	19	4037	c.3808A>C	c.(3808-3810)Acg>Ccg	p.T1270P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1270						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGCTTCAGCGTGAGGTCACTT	0.602000														20			7		0	0	0.006214	0	0
IST1	9798	broad.mit.edu	37	16	71950427	71950427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:71950427C>T	uc002fbj.1	+	4	473	c.190C>T	c.(190-192)Cga>Tga	p.R64*	IST1_uc010cgh.1_Nonsense_Mutation_p.R64*|IST1_uc002fbk.1_Nonsense_Mutation_p.R51*|IST1_uc002fbm.1_Nonsense_Mutation_p.R51*|IST1_uc002fbl.1_Nonsense_Mutation_p.R51*|IST1_uc010vmk.1_Intron			P53990	IST1_HUMAN	Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA.	51	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				cell cycle|cell division	ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle	protein binding										GAAAGATGAACGAGCTCGGAT	0.547000														35			14		0	0	0.002450	0	0
ATP7B	540	broad.mit.edu	37	13	52549113	52549113	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:52549113G>A	uc001vfw.2	-	1	400	c.243C>T	c.(241-243)tcC>tcT	p.S81S	ATP7B_uc001vfy.2_Silent_p.S81S|ATP7B_uc010adv.2_Silent_p.S81S|ATP7B_uc001vfx.2_Silent_p.S81S|ATP7B_uc010tgt.1_Silent_p.S81S|ATP7B_uc010tgu.1_Silent_p.S81S|ATP7B_uc010tgv.1_Silent_p.S81S|ATP7B_uc010tgw.1_Silent_p.S49S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	81	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTTTCAAATTGGAAATCCTGT	0.517000									Wilson disease					58			34		0	0	0.002836	0	0
GK2	2712	broad.mit.edu	37	4	80328580	80328580	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:80328580C>T	uc003hlu.3	-	0	793	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	259					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.G258E(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCACATTGGTCCCCCAAACAC	0.458000														80			37		0	0	0.010771	0	0
ALOXE3	59344	broad.mit.edu	37	17	8012520	8012520	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:8012520C>T	uc002gka.3	-	10	2033	c.2002G>A	c.(2002-2004)Ggc>Agc	p.G668S	ALOXE3_uc010cnr.3_Missense_Mutation_p.G512S|ALOXE3_uc010vuo.2_Missense_Mutation_p.G644S	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	512	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						ATCTTCAGGCCGTCGTCTCGG	0.667000														31			22		0	0	0.002299	0	0
RGS7	6000	broad.mit.edu	37	1	240964804	240964804	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:240964804C>T	uc001hyt.2	-	9	914	c.860G>A	c.(859-861)gGa>gAa	p.G287E	RGS7_uc010pyh.2_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyv.2_Missense_Mutation_p.G455E|RGS7_uc001hyw.2_Intron	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	455	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.T287T(1)|p.T287M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATTGAGTTTCCAGACTTACG	0.328000														17			3		0	0	0.009096	0	0
MUC5B	727897	broad.mit.edu	37	11	1260184	1260184	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:1260184G>A	uc001lta.3	+	25	3440	c.3381G>A	c.(3379-3381)acG>acA	p.T1127T	MUC5B_uc009yct.2_Silent_p.T1127T	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1127	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTTTCTGCACGGCTGTGGCTG	0.672000														6			3		0	0	0.004672	0	0
LRRC25	126364	broad.mit.edu	37	19	18502870	18502870	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:18502870G>A	uc002niw.3	-	1	1487	c.845C>T	c.(844-846)cCt>cTt	p.P282L	LRRC25_uc002nix.3_Missense_Mutation_p.P282L	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	282						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						ACAGTAGACAGGCTGGGAAGC	0.562000														43			28		0	0	0.007291	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702139	156702139	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:156702139C>T	uc001fpu.3	+	2	937	c.303C>T	c.(301-303)acC>acT	p.T101T	RRNAD1_uc001fpv.3_Silent_p.T101T	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	101						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGGCCTTTACCCGGATGCCTG	0.597000														59			16		0	0	0.006122	0	0
OSBPL7	114881	broad.mit.edu	37	17	45895675	45895675	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:45895675G>A	uc002ilx.1	-	6	761	c.558C>T	c.(556-558)tcC>tcT	p.S186S	OSBPL7_uc002ilw.1_5'Flank	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	186					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCCTCAGCCAGGAAGACACTT	0.647000														63			32		0	0	0.004878	0	0
GAK	2580	broad.mit.edu	37	4	845554	845554	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:845554G>A	uc003gbm.4	-	24	3691	c.3492C>T	c.(3490-3492)gtC>gtT	p.V1164V	GAK_uc003gbn.4_Silent_p.V1085V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.V1017V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1164					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGGTGCGCGGACCCCCCGCT	0.597000														43			28		0	0	0.007291	0	0
DUOX2	50506	broad.mit.edu	37	15	45388058	45388058	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:45388058G>A	uc001zun.3	-	29	4251	c.4048C>T	c.(4048-4050)Cca>Tca	p.P1350S	DUOX2_uc010bea.3_Missense_Mutation_p.P1350S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1350	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGCCCTTTGGGGATGAGTAG	0.632000														35			15		0	0	0.002450	0	0
HEPH	9843	broad.mit.edu	37	X	65476088	65476088	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:65476088G>A	uc011moz.2	+	16	3111	c.2974G>A	c.(2974-2976)Gaa>Aaa	p.E992K	HEPH_uc004dwn.3_Missense_Mutation_p.E941K|HEPH_uc004dwo.3_Missense_Mutation_p.E671K|HEPH_uc010nkr.3_Missense_Mutation_p.E749K|HEPH_uc011mpa.2_Missense_Mutation_p.E941K|HEPH_uc010nks.3_Missense_Mutation_p.E230K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	938	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTATTTGGAGGAAAATGTGGC	0.433000														37			26		0	0	0.006320	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139609	125139609	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:125139609G>T	uc003pzo.3	+	5	889	c.612G>T	c.(610-612)atG>atT	p.M204I	NKAIN2_uc010keq.3_Missense_Mutation_p.M137I|NKAIN2_uc003pzp.3_Missense_Mutation_p.M203I|NKAIN2_uc010ker.3_Missense_Mutation_p.M114I	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	204						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TACAGCCTATGTACATGTAAG	0.368000														36			13		3.27435e-08	3.36109e-08	0.002450	1	0
DNAH10	196385	broad.mit.edu	37	12	124414959	124414959	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:124414959G>A	uc001uft.4	+	71	12294	c.12269G>A	c.(12268-12270)gGa>gAa	p.G4090E	DNAH10_uc001ufu.4_Missense_Mutation_p.G3E	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4090					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTCATGTATGGAGGACGGGCC	0.567000														13			5		0	0	0.001168	0	0
SELE	6401	broad.mit.edu	37	1	169701065	169701065	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:169701065G>A	uc001ggm.4	-	3	597	c.440C>T	c.(439-441)tCc>tTc	p.S147F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	147	EGF-like.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.S147F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCCACTGCAGGATGTATTGGT	0.443000														19			5		0	0	0.001168	0	0
KCNB2	9312	broad.mit.edu	37	8	73480322	73480322	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:73480322C>T	uc003xzb.3	+	1	941	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	118					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S118L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGTGCACTTTCGTTTGGCCAA	0.423000														46			48		0	0	0.003610	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100478546	100478546	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:100478546G>A	uc003huy.3	-	3	689	c.376C>T	c.(376-378)Caa>Taa	p.Q126*	RG9MTD2_uc003huz.4_Nonsense_Mutation_p.Q126*|RG9MTD2_uc003hva.4_Nonsense_Mutation_p.Q126*	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	126							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TAACATCGTTGAATCTGCTTA	0.353000														39			17		0	0	0.007413	0	0
PCGF2	7703	broad.mit.edu	37	17	36894641	36894641	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:36894641G>A	uc002hqp.1	-	8	787	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	181					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TTGTTGCGGAGAAACTTGGCA	0.572000														31			13		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9048053	9048053	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:9048053G>A	uc002mkp.3	-	4	33782	c.33578C>T	c.(33577-33579)tCa>tTa	p.S11193L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11195	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						TGGAATGGCTGAAATCATCTT	0.448000														11			11		0	0	0.001368	0	0
FARP1	10160	broad.mit.edu	37	13	99092480	99092481	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:99092480_99092481CC>TT	uc001vnh.3	+	23	2952_2953	c.2713_2714CC>TT	c.(2713-2715)cct>TTt	p.P905F	FARP1_uc001vnj.3_Missense_Mutation_p.P874F	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	874					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGCAGCCCCCCTGACAACAGT	0.609000														61			45		0	0	0.004672	0	0
LRRTM2	26045	broad.mit.edu	37	5	138208984	138208984	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:138208984C>T	uc011cyz.1	-	1	1723	c.1266G>A	c.(1264-1266)cgG>cgA	p.R422R	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.R288R|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	422						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGTAATTACCCGCTGAGTGA	0.408000														84			44		0	0	0.003610	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:153247366C>T	uc003ims.3	-	9	1598	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_uc011cii.2_Missense_Mutation_p.R479Q|FBXW7_uc003imt.3_Missense_Mutation_p.R479Q|FBXW7_uc011cih.2_Missense_Mutation_p.R303Q|FBXW7_uc003imq.3_Missense_Mutation_p.R399Q|FBXW7_uc003imr.3_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	479					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R479Q(62)|p.R479L(11)|p.R479G(3)|p.R399Q(3)|p.R479P(3)|p.R479*(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R479R(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									42			23		0	0	0.002780	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2603	2603	+	RNA	SNP	C	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrGL000237.1:2603C>G	uc011mgu.1	-	0		c.84G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gttacaggctccagcctccag	0.612000														4			2		0	0	0.004672	0	0
FSTL5	56884	broad.mit.edu	37	4	162307342	162307342	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:162307342G>A	uc003iqh.3	-	15	2537	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S	FSTL5_uc003iqi.3_Missense_Mutation_p.P700S|FSTL5_uc010iqv.3_Missense_Mutation_p.P691S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	701						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGCCATCTGGAGAGACATAT	0.463000														50			19		0	0	0.007413	0	0
TTC21B	79809	broad.mit.edu	37	2	166747104	166747104	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:166747104G>A	uc002udk.3	-	23	3281	c.3148C>T	c.(3148-3150)Cgg>Tgg	p.R1050W	TTC21B_uc002udj.2_Non-coding_Transcript	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	1050						cilium axoneme|cytoplasm|cytoskeleton	binding	p.R1050Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CGATCTTTCCGAGCTTTATTA	0.338000														12			11		0	0	0.001368	0	0
PCSK1	5122	broad.mit.edu	37	5	95757600	95757600	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:95757600G>A	uc003kls.2	-	4	843	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	PCSK1_uc021ybq.1_Missense_Mutation_p.P155S	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	202	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.D201N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGTTTGTGGGATCATATCGG	0.328000														99			30		0	0	0.003271	0	0
TCEA3	6920	broad.mit.edu	37	1	23743760	23743760	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:23743760C>T	uc021oig.1	-	3	497	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	TCEA3_uc021oih.1_Missense_Mutation_p.R100Q|TCEA3_uc010ody.1_Missense_Mutation_p.R84Q	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	121					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	p.R121*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GGGGTCTTCTCGTTTTTTCCT	0.443000														30			32		0	0	0.003271	0	0
P2RY8	286530	broad.mit.edu	37	X	1584751	1584751	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:1584751C>T	uc022brv.1	-	0	701	c.701G>A	c.(700-702)cGc>cAc	p.R234H	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.R234H	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	234						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACCGCGCGCCTCCGCTG	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""									30			15		0	0	0.002450	0	0
TNXB	7148	broad.mit.edu	37	6	32038156	32038156	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:32038156G>A	uc003nzl.2	-	13	5228	c.5026C>T	c.(5026-5028)Cgc>Tgc	p.R1676C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1758	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCAAGGCGGGGTGGGGCC	0.597000														127			80		0	0	0.003610	0	0
KSR1	8844	broad.mit.edu	37	17	25932546	25932546	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:25932546G>A	uc010crg.3	+	14	1798	c.1353G>A	c.(1351-1353)cgG>cgA	p.R451R	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Silent_p.R231R	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	587					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCCCTGGCGGGGCCCCATCT	0.662000														3			7		0	0	0.001984	0	0
PSG9	5678	broad.mit.edu	37	19	43762547	43762547	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:43762547G>A	uc002owd.4	-	4	1149	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	PSG9_uc002owe.4_Silent_p.L257L|PSG9_uc010xwm.2_Silent_p.L257L|PSG9_uc002owf.4_Silent_p.L164L|PSG9_uc002owg.2_Silent_p.L257L	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	350	Ig-like C2-type 3.				female pregnancy	extracellular region		p.L350P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.453000														138			82		0	0	0.003610	0	0
TFEC	22797	broad.mit.edu	37	7	115580888	115580888	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:115580888G>A	uc003vhj.2	-	7	1014	c.761C>T	c.(760-762)cCt>cTt	p.P254L	TFEC_uc003vhm.2_Missense_Mutation_p.P187L|TFEC_uc003vhk.2_Missense_Mutation_p.P225L|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATTCTGCTCAGGATGGCTCTG	0.493000														95			58		0	0	0.003610	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709193	101709193	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:101709193G>A	uc003knn.3	-	12	2195	c.2023C>T	c.(2023-2025)Ctt>Ttt	p.L675F	SLCO6A1_uc003kno.3_Missense_Mutation_p.L422F|SLCO6A1_uc003knp.3_Missense_Mutation_p.L675F|SLCO6A1_uc003knq.3_Missense_Mutation_p.L613F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	675						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTTTGCAAAGAAAACCTAAA	0.308000														36			17		0	0	0.006122	0	0
ARGFX	503582	broad.mit.edu	37	3	121305437	121305437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:121305437G>A	uc003eef.3	+	4	1033	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	313						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GTAGACTTGGGATTTCTCTGA	0.403000														42			19		0	0	0.010504	0	0
PSG7	5676	broad.mit.edu	37	19	43439566	43439566	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:43439566G>A	uc002ovl.4	-	2	519	c.417C>T	c.(415-417)ttC>ttT	p.F139F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	140	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				GGTATAAGGTGAAGGTGAAAC	0.512000														309			97		0	0	0.003610	0	0
DAPK2	23604	broad.mit.edu	37	15	64275881	64275881	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:64275881C>T	uc002amr.3	-	2	196	c.165G>A	c.(163-165)aaG>aaA	p.K55K	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.K45K	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	55	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCTGCCGCTTCTTGATGAACT	0.617000														27			11		0	0	0.002450	0	0
ACTL9	284382	broad.mit.edu	37	19	8808458	8808458	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8808458C>T	uc002mkl.2	-	0	715	c.594G>A	c.(592-594)acG>acA	p.T198T		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	198						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCCGTGTCCCGTGTCCACCA	0.667000														26			15		0	0	0.004990	0	0
NCAN	1463	broad.mit.edu	37	19	19337555	19337555	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:19337555G>A	uc002nlz.3	+	6	1432	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	NCAN_uc010ecc.1_Missense_Mutation_p.E9K	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	445					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCCACTGGGGAAGTGTGGCT	0.617000														14			14		0	0	0.003163	0	0
FAM179A	165186	broad.mit.edu	37	2	29240795	29240795	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:29240795G>A	uc010ezl.3	+	9	1684	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	445							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCCGGCAGGAGCCCCGCTT	0.687000														6			12		0	0	0.001855	0	0
TCEA2	6919	broad.mit.edu	37	20	62700772	62700772	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:62700772C>T	uc021wgq.1	+	4	1044	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.P103S|TCEA2_uc010gku.2_Silent_p.L73L	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	130					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CACATTTCCTCCGGTGCCTGT	0.672000														8			11		0	0	0.010729	0	0
DLX5	1749	broad.mit.edu	37	7	96650112	96650112	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:96650112G>A	uc003uon.3	-	2	1014	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	269					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGCAGGTGGGAATTGATTGA	0.597000														38			15		0	0	0.004007	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034251	20034251	+	Silent	SNP	T	C	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:20034251T>C	uc010nfo.2	-	10	1722	c.1605A>G	c.(1603-1605)caA>caG	p.Q535Q	MAP7D2_uc004czq.2_Silent_p.Q379Q|MAP7D2_uc011mji.2_Silent_p.Q442Q|MAP7D2_uc004czr.2_Silent_p.Q494Q|MAP7D2_uc011mjj.2_Silent_p.Q449Q	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	494										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tttcttgttcttgcttttctt	0.428000														10			6		0	0	0.001168	0	0
MYO19	80179	broad.mit.edu	37	17	34859798	34859798	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:34859798G>A	uc010wcy.2	-	20	2960	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.F456F	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	656	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCGGATGGGGAAGCCAGCAG	0.632000														8			3		0	0	0.004672	0	0
OR52N4	390072	broad.mit.edu	37	11	5776500	5776500	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:5776500C>T	uc001mbu.3	+	0	578	c.530C>T	c.(529-531)cCc>cTc	p.P177L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AATATACTTCCCCATACCTAC	0.493000														59			33		0	0	0.010818	0	0
CDH20	28316	broad.mit.edu	37	18	59174649	59174649	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:59174649C>T	uc010dps.1	+	4	1025	c.873C>T	c.(871-873)tcC>tcT	p.S291S	CDH20_uc002lif.2_Silent_p.S285S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	291	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAATTAGCTCCACTGTCGGGA	0.428000														84			17		0	0	0.006122	0	0
NLRP13	126204	broad.mit.edu	37	19	56424336	56424336	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:56424336C>A	uc010ygg.2	-	4	872	c.847G>T	c.(847-849)Gaa>Taa	p.E283*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	283	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAATCAATTCAGCAAAGGTA	0.413000														104			18		2.48551e-13	2.58559e-13	0.004990	1	0
OR4A47	403253	broad.mit.edu	37	11	48510798	48510798	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:48510798C>T	uc010rhx.2	+	0	454	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGAGGATTTCTGCACTCAGT	0.428000														47			23		0	0	0.012319	0	0
FBLN5	10516	broad.mit.edu	37	14	92357594	92357594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr14:92357594G>A	uc010aue.3	-	6	1186	c.713C>T	c.(712-714)aCc>aTc	p.T238I	FBLN5_uc010aud.3_Missense_Mutation_p.T202I|FBLN5_uc001xzx.4_Missense_Mutation_p.T197I	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	197	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTCATTGAGGGTAAAACCAGG	0.478000														31			19		0	0	0.007413	0	0
AKR1B1	231	broad.mit.edu	37	7	134136347	134136347	+	Silent	SNP	G	A	A	rs115549384	by1000genomes	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:134136347G>A	uc003vrp.1	-	1	299	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	75					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CCTTGCTGACGATGAAGAGCT	0.562000														64			26		0	0	0.008361	0	0
CHST10	9486	broad.mit.edu	37	2	101019034	101019034	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:101019034C>G	uc002tam.3	-	3	582	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	62					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ACCTTCAGTTCCTCAGGAATG	0.572000														22			35		0	0	0.005524	0	0
SDK1	221935	broad.mit.edu	37	7	4091391	4091391	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:4091391C>T	uc003smx.3	+	18	2979	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	SDK1_uc010kso.3_Missense_Mutation_p.S223F	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	947	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACTTCACTTCCGTTCTGTGC	0.552000														94			42		0	0	0.010771	0	0
KATNAL1	84056	broad.mit.edu	37	13	30805462	30805462	+	Silent	SNP	A	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:30805462A>G	uc001uss.3	-	6	975	c.874T>C	c.(874-876)Ttg>Ctg	p.L292L	KATNAL1_uc001ust.3_Silent_p.L292L	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	292						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ATCTCAAACAACAGACGAACT	0.398000														48			27		0	0	0.005443	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421644	134421644	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:134421644G>A	uc022ceq.1	-	5	1348	c.958C>T	c.(958-960)Cct>Tct	p.P320S	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.P225S	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTATCACCAGGATTTTCCCTG	0.383000														85			43		0	0	0.010771	0	0
TK2	7084	broad.mit.edu	37	16	66570869	66570869	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:66570869G>A	uc002eos.3	-	3	634	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	TK2_uc010vip.2_5'UTR|TK2_uc002eor.3_Silent_p.L64L|TK2_uc010cdq.3_Silent_p.L64L|TK2_uc010viq.2_Intron|TK2_uc010vir.2_Silent_p.L70L|TK2_uc010cdr.3_Silent_p.L46L	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	95					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CCACTCACCAGAGGATTGTGG	0.542000														71			36		0	0	0.007835	0	0
IL15RA	3601	broad.mit.edu	37	10	5995144	5995144	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:5995144C>T	uc021pmo.1	-	7	990	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	IL15RA_uc010qau.2_Missense_Mutation_p.E207K|IL15RA_uc021pmp.1_Missense_Mutation_p.E177K|IL15RA_uc001iiv.3_Missense_Mutation_p.E240K|IL15RA_uc001iiw.3_Missense_Mutation_p.E204K|IL15RA_uc001iiy.3_Missense_Mutation_p.E88K	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	240					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTTCCATTTCAACGCTGGCC	0.547000														58			42		0	0	0.003610	0	0
PDP1	54704	broad.mit.edu	37	8	94935737	94935737	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:94935737C>T	uc011lgn.2	+	1	1676	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	PDP1_uc003ygf.3_Missense_Mutation_p.R509C|PDP1_uc003yge.3_Missense_Mutation_p.R484C|PDP1_uc010max.3_Missense_Mutation_p.R509C|PDP1_uc011lgm.2_Missense_Mutation_p.R484C|PDP1_uc022ayg.1_Missense_Mutation_p.R484C	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	484					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCATCTCATTCGCCACGCTGT	0.478000														110			33		0	0	0.004289	0	0
CD1E	913	broad.mit.edu	37	1	158325195	158325195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:158325195C>T	uc001fse.3	+	2	754	c.461C>T	c.(460-462)tCc>tTc	p.S154F	CD1E_uc010pid.2_Missense_Mutation_p.S152F|CD1E_uc010pie.2_Missense_Mutation_p.S55F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.S154F|CD1E_uc001fsf.3_Missense_Mutation_p.S154F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.S55F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.S154F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	154					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAAGGAATTTCCTGGGAGCCA	0.448000														57			33		0	0	0.002836	0	0
ABL1	25	broad.mit.edu	37	9	133756025	133756025	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:133756025C>T	uc004bzw.3	+	9	1655	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	ABL1_uc004bzv.3_Missense_Mutation_p.P570L	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	551					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCTGAGATGCCTCACTCCAAG	0.622000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									17			12		0	0	0.001855	0	0
DNAH5	1767	broad.mit.edu	37	5	13922271	13922271	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:13922271G>A	uc003jfd.2	-	4	647	c.605C>T	c.(604-606)tCc>tTc	p.S202F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	202	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTTCCAGGGAGCTCAAGAA	0.542000									Kartagener syndrome					26			10		0	0	0.001368	0	0
OR2M3	127062	broad.mit.edu	37	1	248367245	248367245	+	Silent	SNP	C	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:248367245C>A	uc010pzg.2	+	0	876	c.876C>A	c.(874-876)ctC>ctA	p.L292L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACAGCCTCCGCAACAAGG	0.473000														51			30		1.06801e-11	1.10361e-11	0.009535	1	0
GABRQ	55879	broad.mit.edu	37	X	151818304	151818304	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:151818304G>A	uc004ffp.1	+	5	730	c.710G>A	c.(709-711)gGa>gAa	p.G237E		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	237						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTCCTGGGAAGGACGATT	0.483000														69			41		0	0	0.008740	0	0
WDR64	128025	broad.mit.edu	37	1	241904917	241904917	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:241904917A>G	uc001hzg.2	+	10	1598	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	WDR64_uc021plh.1_Missense_Mutation_p.N258S|WDR64_uc021pli.1_Missense_Mutation_p.N184S	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	464										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATGCTTTACAACAAATATTTT	0.348000														20			9		0	0	0.004482	0	0
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	T	T	rs147838351		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:68405851C>T	uc002ewa.3	-	2	656	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_uc010cfe.3_Silent_p.A78A|SMPD3_uc010vlh.2_Silent_p.A78A	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	78					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672000														34			15		0	0	0.004007	0	0
IPO5	3843	broad.mit.edu	37	13	98666328	98666328	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr13:98666328C>T	uc001vne.3	+	21	2419	c.2239C>T	c.(2239-2241)Ctt>Ttt	p.L747F		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	729					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATCCATGCCTCTTCTCCTGGA	0.433000														76			43		0	0	0.013114	0	0
ALPP	250	broad.mit.edu	37	2	233244902	233244902	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:233244902C>T	uc002vsq.3	+	5	829	c.664C>T	c.(664-666)Cta>Tta	p.L222L		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	222						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGTGATCCTAGGTGGAGG	0.622000														30			28		0	0	0.010818	0	0
ALPK2	115701	broad.mit.edu	37	18	56246229	56246229	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr18:56246229C>T	uc002lhj.4	-	3	1993	c.1779G>A	c.(1777-1779)cgG>cgA	p.R593R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	593							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATGGGAACTCCGACCAGTCG	0.493000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		55			24		0	0	0.003954	0	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:50370414A>G	uc002pqj.3	-	1	158	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(12)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors						28			9		0	0	0.008291	0	0
CHSY1	22856	broad.mit.edu	37	15	101718622	101718622	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:101718622C>T	uc021sxt.1	-	2	1856	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G	CHSY1_uc010usd.2_Silent_p.G188G	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	460					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCATTTTCTTCCCTTTGTGCT	0.507000														28			14		0	0	0.001855	0	0
SLC25A31	83447	broad.mit.edu	37	4	128694625	128694625	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:128694625C>T	uc003ifl.3	+	5	990	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	282					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTCCTTTTTTCGTGGCGCCTT	0.383000														23			22		0	0	0.002299	0	0
PLCB3	5331	broad.mit.edu	37	11	64026164	64026164	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:64026164C>T	uc009ypi.3	+	10	1359	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	PLCB3_uc009ypg.2_Missense_Mutation_p.S411F|PLCB3_uc009yph.2_Missense_Mutation_p.S344F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	411	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCATCCTCTCCTTCGAGAAC	0.612000														48			34		0	0	0.003755	0	0
TLN2	83660	broad.mit.edu	37	15	62967500	62967500	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:62967500G>A	uc002alb.4	+	7	937	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	313	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.G312G(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACATATGGCGTGTCCTTCTT	0.502000														50			23		0	0	0.005443	0	0
MINPP1	9562	broad.mit.edu	37	10	89264929	89264929	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:89264929T>G	uc001keu.3	+	0	707	c.257T>G	c.(256-258)cTc>cGc	p.L86R	MINPP1_uc001kev.3_Missense_Mutation_p.L86R|MINPP1_uc009xtf.2_Non-coding_Transcript|MINPP1_uc021pvv.1_5'Flank	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	Homo sapiens multiple inositol-polyphosphate phosphatase 1 (MINPP1), transcript variant 1, mRNA.	86					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CTGGTCGCCCTCATTCGCCAC	0.692000											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			8		0	0	0.003080	0	0
GZF1	64412	broad.mit.edu	37	20	23350250	23350250	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:23350250G>A	uc010gdb.3	+	5	1831	c.1657G>A	c.(1657-1659)Ggc>Agc	p.G553S	GZF1_uc002wsy.3_Missense_Mutation_p.G553S|GZF1_uc010zsq.2_Missense_Mutation_p.G77S|GZF1_uc010zsr.2_Missense_Mutation_p.G62S|GZF1_uc002wsz.3_Missense_Mutation_p.G553S	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	553					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGACCAGTGCGGCAAGCAGTT	0.597000														121			59		0	0	0.003610	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374929	8374929	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:8374929G>A	uc001qui.2	-	6	1443	c.884C>T	c.(883-885)cCg>cTg	p.P295L	FAM90A1_uc001quh.2_Missense_Mutation_p.P295L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	295							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AATCGGAGCCGGGGCAGATCT	0.652000														72			22		0	0	0.002299	0	0
STXBP3	6814	broad.mit.edu	37	1	109338903	109338903	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:109338903C>T	uc001dvy.3	+	13	1233	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S		NM_007269	NP_009200	O00186	STXB3_HUMAN	Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.	386					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TGAAAGATTCCATGCGAGTAC	0.328000														33			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9070674	9070674	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:9070674C>T	uc002mkp.3	-	2	16976	c.16772G>A	c.(16771-16773)gGa>gAa	p.G5591E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5593	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						ATGAGTCCCTCCCTGGAAAAG	0.512000														78			62		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9019291	9019291	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:9019291G>A	uc002mkp.3	-	22	37800	c.37596C>T	c.(37594-37596)tcC>tcT	p.S12532S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12534					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GGCTTGGGAGGGAGAATGGAG	0.458000														20			6		0	0	0.003080	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16877421	16877421	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:16877421G>A	uc010rcu.1	-	4	361	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P116S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	116					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ATGCTGGACGGTCTTTGGTTT	0.552000														126			72		0	0	0.003610	0	0
ZNF681	148213	broad.mit.edu	37	19	23937634	23937634	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:23937634C>T	uc002nrk.4	-	2	359	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF681_uc002nrl.4_Missense_Mutation_p.E4K|ZNF681_uc002nrj.4_Missense_Mutation_p.E4K|ZNF681_uc002nrm.1_Non-coding_Transcript	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTGGGGGTTCGGCCACCATC	0.418000														32			24		0	0	0.003954	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681966	69681966	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:69681966C>T	uc003hee.3	+	0	254	c.229C>T	c.(229-231)Cct>Tct	p.P77S	UGT2B10_uc011cam.2_Missense_Mutation_p.P77S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGTTTATCCTACATCTTT	0.348000														59			32		0	0	0.009535	0	0
AOAH	313	broad.mit.edu	37	7	36698799	36698799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:36698799G>A	uc022abu.1	-	3	763	c.362C>T	c.(361-363)cCa>cTa	p.P121L	AOAH_uc003tfh.4_Missense_Mutation_p.P121L|AOAH_uc011kba.2_Missense_Mutation_p.P89L	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	121					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATGACACAATGGTTGGCCAGT	0.463000														72			41		0	0	0.011902	0	0
MUC4	4585	broad.mit.edu	37	3	195491985	195491985	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:195491985C>T	uc021xjp.1	-	9	13963	c.13807G>A	c.(13807-13809)Ggc>Agc	p.G4603S	MUC4_uc003fuz.3_Missense_Mutation_p.G201S|MUC4_uc003fva.3_Missense_Mutation_p.G83S|MUC4_uc003fvb.3_Missense_Mutation_p.G119S|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G119S|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.G112S|MUC4_uc021xjn.1_Missense_Mutation_p.G292S|MUC4_uc021xjo.1_Missense_Mutation_p.G83S|MUC4_uc021xjg.1_Missense_Mutation_p.G83S|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G167S|MUC4_uc021xjj.1_Missense_Mutation_p.G167S|MUC4_uc021xjk.1_Missense_Mutation_p.G344S|MUC4_uc021xjl.1_Missense_Mutation_p.G83S|MUC4_uc003fvo.3_Missense_Mutation_p.G367S|MUC4_uc003fvp.3_Missense_Mutation_p.G316S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1360					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGCCGAGGCCCCAGCGACCT	0.662000														12			12		0	0	0.010729	0	0
PDGFRA	5156	broad.mit.edu	37	4	54294256	54294256	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:54294256C>T	uc003gzy.3	+	12	1266	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Silent_p.F345F|PDGFRA_uc011bzt.1_Silent_p.F324F|PDGFRA_uc011bzu.2_Silent_p.F345F|PDGFRA_uc003gzz.3_Silent_p.F286F|PDGFRA_uc003hab.3_Silent_p.F325F|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_5'UTR	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCCGTTTTTCCCTCCAGGAG	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				17			6		0	0	0.001168	0	0
OR51L1	119682	broad.mit.edu	37	11	5020909	5020909	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:5020909C>T	uc010qyu.2	+	0	697	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTGCATCTCGTGAAGAGCA	0.418000														37			21		0	0	0.008871	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511823	4511823	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:4511823G>A	uc002cwm.3	-	5	1014	c.858C>T	c.(856-858)gaC>gaT	p.D286D	NMRAL1_uc002cwn.3_Silent_p.D286D|NMRAL1_uc002cwo.3_Silent_p.D286D	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	Homo sapiens NmrA-like family domain containing 1 (NMRAL1), mRNA.	286						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCAGCCACTGGTCCAGCGTCA	0.647000														102			58		0	0	0.003610	0	0
TPH2	121278	broad.mit.edu	37	12	72425076	72425076	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr12:72425076C>T	uc009zrw.1	+	9	1344	c.1203C>T	c.(1201-1203)gaC>gaT	p.D401D	TPH2_uc001swy.2_Silent_p.D311D	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	401					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AAGCCTTTGACCCAAAGACAA	0.418000														53			37		0	0	0.004878	0	0
CALCA	796	broad.mit.edu	37	11	14992719	14992719	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:14992719G>A	uc001mlv.1	-	1	71	c.20C>T	c.(19-21)tCc>tTc	p.S7F	CALCA_uc001mlt.2_Missense_Mutation_p.S7F|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.S7F	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	7					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CAGGAAGGGGGAGAACTTTTG	0.542000														41			21		0	0	0.002780	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762876	130762876	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:130762876G>A	uc003qcb.3	+	1	3687	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	TMEM200A_uc003qca.3_Missense_Mutation_p.E437K|TMEM200A_uc010kfh.3_Missense_Mutation_p.E437K|TMEM200A_uc010kfi.3_Missense_Mutation_p.E437K|TMEM200A_uc021zfg.1_Missense_Mutation_p.E437K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	437						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGAGAACAAAGAAGACCCGAT	0.423000														33			22		0	0	0.002299	0	0
ASTL	431705	broad.mit.edu	37	2	96789678	96789678	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:96789678C>T	uc010yui.2	-	8	1207	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	403					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGCTGGATTCCTGCTTCTGAA	0.592000														31			28		0	0	0.006320	0	0
OR9A4	130075	broad.mit.edu	37	7	141618923	141618923	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:141618923G>A	uc003vwu.1	+	0	248	c.248G>A	c.(247-249)gGa>gAa	p.G83E		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATGCTTTGGGGATTGCTGCTC	0.517000														109			37		0	0	0.003755	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														30			4		0	0	0.000602	0	0
MUC6	4588	broad.mit.edu	37	11	1018448	1018448	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:1018448G>A	uc001lsw.2	-	30	4404	c.4353C>T	c.(4351-4353)tcC>tcT	p.S1451S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1451	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAGGAGGTGGAGAAAGGTG	0.552000														395			12		0	0	0.001855	0	0
FGA	2243	broad.mit.edu	37	4	155509998	155509998	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:155509998G>A	uc003iod.1	-	2	369	c.311C>T	c.(310-312)tCg>tTg	p.S104L	FGA_uc003ioe.1_Missense_Mutation_p.S104L|FGA_uc003iof.1_Missense_Mutation_p.S104L	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	104					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGTGGTCAACGAATGAGAATC	0.294000														112			45		0	0	0.003610	0	0
TBCEL	219899	broad.mit.edu	37	11	120957608	120957608	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:120957608C>T	uc001pxo.3	+	7	1283	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	TBCEL_uc009zay.3_Missense_Mutation_p.R360C|TBCEL_uc001pxp.3_Missense_Mutation_p.R216C|TBCEL_uc001pxq.3_Non-coding_Transcript	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	360	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATGAGCATTCGTCTGGACCA	0.433000														19			9		0	0	0.006214	0	0
SUPT3H	8464	broad.mit.edu	37	6	44900436	44900436	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:44900436G>A	uc003oxp.3	-	9	1032	c.866C>T	c.(865-867)gCc>gTc	p.A289V	SUPT3H_uc003oxn.1_Missense_Mutation_p.A289V|SUPT3H_uc003oxo.3_Missense_Mutation_p.A300V|SUPT3H_uc011dvv.2_Missense_Mutation_p.A137V|SUPT3H_uc011dvw.2_Missense_Mutation_p.A203V	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	371					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GCGTCGAATGGCCTCTCTGAT	0.428000														23			10		0	0	0.001855	0	0
PRDM9	56979	broad.mit.edu	37	5	23526840	23526840	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:23526840G>A	uc003jgo.3	+	10	1825	c.1643G>A	c.(1642-1644)gGg>gAg	p.G548E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	548					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G548G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACATACAGGGGAGAAGCTC	0.488000										HNSCC(3;0.000094)				64			35		0	0	0.004289	0	0
MT4	84560	broad.mit.edu	37	16	56601683	56601683	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:56601683G>A	uc002eje.1	+	1	132	c.52G>A	c.(52-54)Gac>Aac	p.D18N		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	18						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						CATGTGTGGAGACAACTGCAA	0.498000														57			27		0	0	0.012213	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622409	41622410	+	Missense_Mutation	DNP	GG	AA	AA	rs145103345	byFrequency	TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:41622409_41622410GG>AA	uc002opu.1	+	2	277_278	c.221_222GG>AA	c.(220-222)cgg>cAA	p.R74Q	CYP2F1_uc021uuv.1_5'UTR|CYP2F1_uc010xvv.1_Missense_Mutation_p.R74Q|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	74					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGACCCAGGCGGGTGGTGGTCC	0.599000														94			45		0	0	0.004672	0	0
GPR20	2843	broad.mit.edu	37	8	142367672	142367672	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:142367672C>T	uc022bby.1	-	0	352	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	GPR20_uc003ywf.3_Missense_Mutation_p.G118S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	118						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGCAGGCAGCCCCTGGCGCCG	0.612000														41			22		0	0	0.002780	0	0
CA10	56934	broad.mit.edu	37	17	50008478	50008478	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:50008478C>T	uc002itv.4	-	3	905	c.169G>A	c.(169-171)Gga>Aga	p.G57R	CA10_uc002itw.4_Missense_Mutation_p.G51R|CA10_uc002itx.4_Missense_Mutation_p.G51R|CA10_uc002ity.4_Missense_Mutation_p.G51R|CA10_uc002itz.2_Missense_Mutation_p.G51R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	51					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTCACCAATCCCCAGAAAGAA	0.438000														80			40		0	0	0.006999	0	0
ACE	1636	broad.mit.edu	37	17	61566100	61566100	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr17:61566100C>T	uc002jau.2	+	15	2431	c.2397C>T	c.(2395-2397)ctC>ctT	p.L799L	ACE_uc010wpj.2_Silent_p.L225L|ACE_uc010ddv.2_Silent_p.L26L|ACE_uc002jav.2_Silent_p.L225L|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.L109L	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	799	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGCCATCCTCCAGTTTTACC	0.557000														63			35		0	0	0.004878	0	0
MMP11	4320	broad.mit.edu	37	22	24125674	24125674	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr22:24125674C>T	uc002zxx.3	+	7	1432	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	470	Hemopexin-like 4.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AAGGCTTCCCCCGTCTCGTGG	0.607000														80			37		0	0	0.004878	0	0
DHX16	8449	broad.mit.edu	37	6	30627339	30627339	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:30627339G>A	uc003nqz.3	-	11	2129	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	DHX16_uc003nqy.3_Silent_p.I158I|DHX16_uc011dmo.2_Silent_p.I579I	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	639	Helicase C-terminal.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGAGCTCCCGGATTTTGGAGC	0.612000														18			9		0	0	0.004482	0	0
ABCC12	94160	broad.mit.edu	37	16	48125042	48125042	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:48125042C>T	uc002efc.1	-	22	3620	c.3274G>A	c.(3274-3276)Gaa>Aaa	p.E1092K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1092						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GAAATGTATTCCCTGAGCAGC	0.498000														111			54		0	0	0.003610	0	0
FAM82A1	151393	broad.mit.edu	37	2	38224657	38224657	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:38224657G>A	uc002rqn.2	+	8	1704	c.1578_splice	c.e8+1	p.K526_splice	FAM82A1_uc002rqk.1_Silent_p.K203K|FAM82A1_uc002rql.3_Splice_Site_p.K348_splice|FAM82A1_uc021vga.1_Splice_Site_p.K348_splice|FAM82A1_uc002rqm.3_Splice_Site_p.K203_splice	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	348						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						ATTTCCTTAAGGTACATTTTG	0.398000														11			21		0	0	0.008871	0	0
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916853	114916853	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr5:114916853G>A	uc003kre.3	-	3	995	c.608C>T	c.(607-609)tCc>tTc	p.S203F	TMED7-TICAM2_uc003krd.3_3'UTR|TMED7-TICAM2_uc003krc.3_Missense_Mutation_p.S34F|TMED7-TICAM2_uc021ycq.1_Missense_Mutation_p.S34F	NM_001164468	NP_001157940	Q86XR7	TCAM2_HUMAN	Homo sapiens TMED7-TICAM2 readthrough (TMED7-TICAM2), transcript variant 1, mRNA.	34	TIR.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity										AGACTTCTTGGAATCTGACTC	0.468000														95			43		0	0	0.008740	0	0
GRIK3	2899	broad.mit.edu	37	1	37291238	37291238	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:37291238G>T	uc001caz.2	-	10	1855	c.1720C>A	c.(1720-1722)Ctg>Atg	p.L574M	GRIK3_uc001cba.1_Missense_Mutation_p.L574M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	574					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTGACCCCCAGGTAGGCGAGG	0.567000														21			14		1.05317e-09	1.08466e-09	0.002450	1	0
DNAH1	25981	broad.mit.edu	37	3	52395225	52395225	+	Silent	SNP	T	C	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:52395225T>C	uc011bef.2	+	28	4992	c.4731T>C	c.(4729-4731)ggT>ggC	p.G1577G		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1577	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTTTGGGGGTGCCCCAGCTG	0.617000														20			8		0	0	0.004482	0	0
NLRP13	126204	broad.mit.edu	37	19	56413429	56413429	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:56413429G>A	uc010ygg.2	-	8	2786	c.2761C>T	c.(2761-2763)Cgc>Tgc	p.R921C		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	921							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCATCTGGGCGACCCAAGGCC	0.547000														110			19		0	0	0.010504	0	0
OR4A15	81328	broad.mit.edu	37	11	55136340	55136340	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:55136340G>A	uc010rif.2	+	0	981	c.981G>A	c.(979-981)agG>agA	p.R327R		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTGCCATGAGGAAACTTTGGA	0.373000														56			39		0	0	0.005524	0	0
GRM7	2917	broad.mit.edu	37	3	7620138	7620138	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:7620138C>T	uc003bqm.2	+	7	1819	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V515V|GRM7_uc003bql.2_Silent_p.V515V|GRM7_uc003bqn.1_Silent_p.V98V|GRM7_uc010hch.1_Silent_p.V26V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	515					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTAAAGGAGTCCGAGAGATAC	0.463000														21			16		0	0	0.004007	0	0
CALML5	51806	broad.mit.edu	37	10	5541195	5541195	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:5541195G>A	uc001iic.2	-	0	339	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	69	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CCGCCGTCAGGAACTCCTGGA	0.657000														37			18		0	0	0.007413	0	0
TLR9	54106	broad.mit.edu	37	3	52257979	52257979	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:52257979G>A	uc003ddb.3	-	4	854	c.644C>T	c.(643-645)aCc>aTc	p.T215I	TLR9_uc003dda.2_Missense_Mutation_p.T118I|TLR9_uc003ddc.1_Missense_Mutation_p.T103I	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	118					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGCCAAGAAGGTGCTGGGCTC	0.602000														90			53		0	0	0.003610	0	0
C20orf94	128710	broad.mit.edu	37	20	10603436	10603436	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr20:10603436C>T	uc010zre.2	+	7	816	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	212							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						AGGCTTCCTCCAGTCCCCCAT	0.488000														49			14		0	0	0.002450	0	0
EHMT1	79813	broad.mit.edu	37	9	140638524	140638524	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:140638524G>A	uc011mfc.2	+	5	1189	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	EHMT1_uc004coa.3_Silent_p.E384E|EHMT1_uc004cob.1_Silent_p.E353E	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	384					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCATGTCGGAGGCTGATCGCG	0.572000														14			21		0	0	0.010504	0	0
COL6A6	131873	broad.mit.edu	37	3	130285586	130285586	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:130285586C>T	uc010htl.3	+	3	1354	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	441	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTGCTTATCGATGGCTCAG	0.473000														27			17		0	0	0.004007	0	0
BTN2A1	11120	broad.mit.edu	37	6	26458872	26458872	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:26458872C>T	uc003nib.2	+	1	256	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BTN2A1_uc021yni.1_Missense_Mutation_p.S3L|BTN2A1_uc003nic.2_Missense_Mutation_p.S3L|BTN2A1_uc011dko.2_Intron	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	3					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCATGGAATCAGCTGCTGCC	0.622000														84			4		0	0	0.001168	0	0
BTRC	8945	broad.mit.edu	37	10	103310575	103310575	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:103310575C>T	uc001kta.3	+	13	1889	c.1776C>T	c.(1774-1776)ccC>ccT	p.P592P	BTRC_uc001ktb.3_Silent_p.P556P|BTRC_uc001ktc.3_Silent_p.P566P	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	592			P -> H (in dbSNP:rs2270439).		Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AAGCTGAACCCCCCCGTTCCC	0.438000														23			21		0	0	0.002780	0	0
CHM	1121	broad.mit.edu	37	X	85119751	85119751	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:85119751G>A	uc004eet.3	-	14	1876	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F	CHM_uc011mqz.2_Missense_Mutation_p.L468F	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	616					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCTCCATCAAGGATAATGTCT	0.453000														12			7		0	0	0.003080	0	0
TSIX	9383	broad.mit.edu	37	X	73046260	73046260	+	RNA	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:73046260G>A	uc004ebn.2	+	0		c.34221G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GATGTGAATAGAAACAGAAGT	0.388000														23			11		0	0	0.010729	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016432	22016432	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:22016432C>T	uc010tzk.1	-	0	447	c.285G>A	c.(283-285)gtG>gtA	p.V95V						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		GAGCTCTTTTCACTTTGCACT	0.393000														45			10		0	0	0.001368	0	0
MAML3	55534	broad.mit.edu	37	4	140651714	140651714	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr4:140651714G>A	uc021xsg.1	-	2	2939	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.F192F	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	725	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGCTGCCCAGGAAGCCGGGGC	0.622000														9			4		0	0	0.009096	0	0
SNRPN	6638	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:25442574G>A	uc001yzf.1	+	5		c.569G>A			SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGGCCCCGGGAAAATGTCCC	0.602000									Prader-Willi syndrome					12			6		0	0	0.001168	0	0
C8orf34	116328	broad.mit.edu	37	8	69358599	69358599	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr8:69358599G>A	uc010lyz.3	+	2	802	c.511G>A	c.(511-513)Gat>Aat	p.D171N	C8orf34_uc010lyx.2_Missense_Mutation_p.D171N|C8orf34_uc010lyy.2_Missense_Mutation_p.D171N|C8orf34_uc003xyb.3_Missense_Mutation_p.D60N	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	85					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGAAGCTATGATAAACCTTG	0.338000														34			49		0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					37			22		0	0	0.004656	0	0
FAM13C	220965	broad.mit.edu	37	10	61007471	61007471	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr10:61007471G>A	uc001jkn.3	-	13	1793	c.1661C>T	c.(1660-1662)cCa>cTa	p.P554L	PHYHIPL_uc001jkk.4_3'UTR|PHYHIPL_uc001jkl.4_3'UTR|PHYHIPL_uc001jkm.4_3'UTR|FAM13C_uc010qid.2_Missense_Mutation_p.P470L|FAM13C_uc001jko.3_Missense_Mutation_p.P456L|FAM13C_uc010qie.2_Missense_Mutation_p.P471L	NM_198215	NP_001137245	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	554										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCTGCCATTGGTATCCTATC	0.328000														18			32		0	0	0.010818	0	0
PIK3CB	5291	broad.mit.edu	37	3	138402568	138402568	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:138402568T>C	uc011bmq.2	-	15	2377	c.2377A>G	c.(2377-2379)Aag>Gag	p.K793E	PIK3CB_uc011bmn.2_Missense_Mutation_p.K305E|PIK3CB_uc011bmo.2_Missense_Mutation_p.K239E|PIK3CB_uc011bmp.2_Missense_Mutation_p.K380E	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	793					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCAAATACCTTGTTATTGTAT	0.328000														337			165		0	0	0.003610	0	0
SYNM	23336	broad.mit.edu	37	15	99669736	99669736	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr15:99669736G>A	uc002bup.3	+	4	1288	c.1168G>A	c.(1168-1170)Gga>Aga	p.G390R	SYNM_uc002buo.3_Missense_Mutation_p.G390R|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	391	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACATCTATTGGAGGTGATGC	0.507000														153			84		0	0	0.003610	0	0
DMD	1756	broad.mit.edu	37	X	32429959	32429959	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:32429959T>A	uc004dda.1	-	29	4387	c.4143A>T	c.(4141-4143)ttA>ttT	p.L1381F	DMD_uc004dcw.2_Missense_Mutation_p.L37F|DMD_uc004dcx.2_Missense_Mutation_p.L40F|DMD_uc004dcz.2_Missense_Mutation_p.L1258F|DMD_uc004dcy.1_Missense_Mutation_p.L1377F|DMD_uc004ddb.1_Missense_Mutation_p.L1373F|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1381					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTCCTGGATTAAGTGTAAGG	0.458000														43			26		0	0	0.005443	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111505	7111505	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr11:7111505G>A	uc001mfc.2	+	0	1341	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	385	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCTTGGAGAGAGGAGGAGGC	0.552000														11			9		0	0	0.010729	0	0
ZNF646	9726	broad.mit.edu	37	16	31092343	31092343	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:31092343C>T	uc002eap.3	+	1	4987	c.4698C>T	c.(4696-4698)ttC>ttT	p.F1566F	ZNF646_uc021tgu.1_Silent_p.F1566F	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E1565K(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAAGGAGTTCTTAAATCCTG	0.542000														52			34		0	0	0.003271	0	0
ZNF74	7625	broad.mit.edu	37	22	20759962	20759962	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr22:20759962C>T	uc010gsm.3	+	5	851	c.639C>T	c.(637-639)gcC>gcT	p.A213A	ZNF74_uc002zsg.3_Silent_p.A142A|ZNF74_uc002zsh.3_Silent_p.A213A|ZNF74_uc002zsi.3_Silent_p.A142A|ZNF74_uc010gsn.3_Silent_p.A142A	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	213					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAACCAAGGCCCCCGCGAGAC	0.697000														16			13		0	0	0.001855	0	0
SPACA1	81833	broad.mit.edu	37	6	88757815	88757815	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr6:88757815G>A	uc003pmn.3	+	0	309	c.192G>A	c.(190-192)ccG>ccA	p.P64P		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	64						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ACTACGCTCCGCCTGAAACCG	0.647000														15			11		0	0	0.003163	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26899811	26899811	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:26899811C>T	uc001bmr.1	+	20	2207	c.2044C>T	c.(2044-2046)Ccc>Tcc	p.P682S	RPS6KA1_uc010ofe.1_Missense_Mutation_p.P590S|RPS6KA1_uc001bms.1_Missense_Mutation_p.P691S|RPS6KA1_uc009vsl.1_Missense_Mutation_p.P525S	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	682					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGACAAGCTTCCCCAAAGCCA	0.602000														34			38		0	0	0.006230	0	0
CD22	933	broad.mit.edu	37	19	35837499	35837499	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:35837499C>T	uc010edt.3	+	13	2527	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	CD22_uc010edu.3_Missense_Mutation_p.P727S|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.P638S|CD22_uc010xst.2_Missense_Mutation_p.P643S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	815					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCAGATTTTCCAGAAGATGA	0.532000														9			6		0	0	0.001984	0	0
ZNF423	23090	broad.mit.edu	37	16	49669843	49669843	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:49669843G>A	uc002efs.3	-	4	3518	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	ZNF423_uc010vgn.2_Missense_Mutation_p.R957C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1074					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCTTGCTGCGGAACTCCTTG	0.662000														17			8		0	0	0.004482	0	0
HTR5A	3361	broad.mit.edu	37	7	154876005	154876005	+	Silent	SNP	C	T	T	rs145653373		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr7:154876005C>T	uc003wlu.1	+	1	946	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	294						integral to plasma membrane	serotonin receptor activity	p.F294L(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTGGCGTGTTCGTGCTCTGCT	0.622000														65			34		0	0	0.003755	0	0
STX1B	112755	broad.mit.edu	37	16	31012906	31012906	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr16:31012906C>T	uc010cad.2	-	1	161	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	STX1B_uc010vfd.2_Missense_Mutation_p.E17K	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	17				E -> K (in Ref. 1; BAA07152).	intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	SNAP receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						ACCTCCTCTTCATCATCACTG	0.617000														25			17		0	0	0.008871	0	0
GPR50	9248	broad.mit.edu	37	X	150349595	150349595	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chrX:150349595G>T	uc010ntg.2	+	1	1678	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	514	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCATGCTGAGCCCACCAC	0.607000														103			28		7.76418e-22	8.15897e-22	0.005443	1	0
OR2L13	284521	broad.mit.edu	37	1	248262875	248262875	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr1:248262875C>T	uc001ids.3	+	2	535	c.198C>T	c.(196-198)tcC>tcT	p.S66S	OR2L13_uc021pmc.1_Silent_p.S66S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCAGCTCTCCCTTATGGACC	0.537000														102			47		0	0	0.003610	0	0
FBN3	84467	broad.mit.edu	37	19	8190879	8190879	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:8190879G>A	uc002mjf.3	-	20	2645	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	876	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGACTCCCGGGAAGGACTCAC	0.637000														41			19		0	0	0.010504	0	0
NFIC	4782	broad.mit.edu	37	19	3452490	3452490	+	Silent	SNP	G	A	A			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr19:3452490G>A	uc010xhi.2	+	7	1165	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	NFIC_uc002lxo.3_Silent_p.R356R|NFIC_uc010xhh.2_Silent_p.R356R|NFIC_uc010xhj.2_Silent_p.R365R|NFIC_uc002lxp.3_Silent_p.R365R	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	365					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGATCGCCCGGAGCCCACACC	0.647000														248			81		0	0	0.003610	0	0
FOXN2	3344	broad.mit.edu	37	2	48602501	48602501	+	Silent	SNP	C	T	T			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:48602501C>T	uc002rwh.1	+	6	1530	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	405					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GATCTCTGCTCCACCTTGCTG	0.403000														6			10		0	0	0.008291	0	0
REG1A	5967	broad.mit.edu	37	2	79350320	79350323	+	Frame_Shift_Del	DEL	TGTC	-	-			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr2:79350320_79350323delTGTC	uc010ysd.2	+	4	547_550	c.480_483delTGTC	c.(478-483)tttgtcfs	p.F160fs	REG1A_uc002snz.3_Frame_Shift_Del_p.F160fs	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	160	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.V161L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGTTCTCCTTTGTCTGCAAGTTCA	0.422													---	7	---	---	10	---					
PTPN23	25930	broad.mit.edu	37	3	47454624	47454626	+	In_Frame_Del	DEL	TGA	-	-			TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr3:47454624_47454626delTGA	uc003crf.1	+	24	4956_4958	c.4860_4862delTGA	c.(4858-4863)tctgac>tcc	p.D1622del	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_In_Frame_Del_p.D1492del|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1622					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCGGCCCTCTGACGACCCCCTC	0.581													---	75	---	---	26	---					
B4GALT1	2683	broad.mit.edu	37	9	33166963	33166983	+	In_Frame_Del	DEL	CGGCGGCACTGTTCGAGCCGC	-	-	rs1064905		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:33166963_33166983delCGGCGGCACTGTTCGAGCCGC	uc003zsg.2	-	0	374_394	c.185_205delGCGGCTCGAACAGTGCCGCCG	c.(184-207)ggcggctcgaacagtgccgccgcc>gcc	p.GGSNSAA62del		NM_001497	NP_001488	P15291	B4GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA.	62					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane	N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCCCGATGGCGGCGGCACTGTTCGAGCCGCCCTGCAGCGG	0.738													---	7	---	---	4	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	-	-	rs34222232		TCGA-FS-A1YY-06A-11D-A197-08	TCGA-FS-A1YY-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd0dc4d6-b5b1-4728-aa99-84defbf887bd	4429af46-c835-46e8-b971-ebacc4796386	g.chr9:139277995_139277997delGCT	uc004chh.3	-	14	1633_1635	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													---	5	---	---	8	---					
