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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CYYR1	116159	broad.mit.edu	37	21	27945230	27945230	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:27945230T>A	ENST00000299340.4	-	1	373	c.30A>T	c.(28-30)ccA>ccT	p.P10P	CYYR1_ENST00000435845.2_Silent_p.P118P|CYYR1_ENST00000400043.3_Silent_p.P10P	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	10						integral to membrane		p.P10P(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAAGACCCCTGGACGCACGG	0.667000													30	133					0	0	0.760397	0	0
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:168106863G>A	ENST00000409195.1	+	9	9050	c.8961G>A	c.(8959-8961)ctG>ctA	p.L2987L	XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343000													31	296					0	0	0.779181	0	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:120008510C>A	ENST00000341846.5	-	1	651	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000													58	162					3.36121e-32	5.40944e-32	0.870114	1	0
VWA7	80737	broad.mit.edu	37	6	31740879	31740879	+	Silent	SNP	G	G	A	rs146780305	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:31740879G>A	ENST00000375686.3	-	7	1176	c.939C>T	c.(937-939)gcC>gcT	p.A313A	VWA7_ENST00000375688.4_Silent_p.A313A|VWA7_ENST00000447450.1_Silent_p.A313A|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	313						extracellular region		p.A313A(2)									TCAGGCTGGAGGCTGGGGTGA	0.632000													5	15					0	0	0.217242	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513959	1513959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:1513959C>A	ENST00000421627.2	+	3	1235	c.1101C>A	c.(1099-1101)agC>agA	p.S367R	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	446					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S411R(1)|p.S389R(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGAGGAGAGCGGAGAGTCAG	0.567000													3	22					0.004672	0.00490037	0.115264	1	0
OR4M2	390538	broad.mit.edu	37	15	22368980	22368980	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:22368980C>A	ENST00000332663.2	+	1	503	c.405C>A	c.(403-405)atC>atA	p.I135I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCTACCATCATGAATCAAC	0.502000													49	929					8.86878e-18	1.24115e-17	0.870114	1	0
PEG3	5178	broad.mit.edu	37	19	57327996	57327996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:57327996C>A	ENST00000326441.9	-	10	2177	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G479V|PEG3_ENST00000423103.2_Missense_Mutation_p.G605V|PEG3_ENST00000598410.1_Missense_Mutation_p.G481V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGTTTCCCCGCGCtcacg	0.453000													17	62					2.94398e-08	3.4458e-08	0.557998	1	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:93015490G>T	ENST00000333334.2	+	1	607	c.112G>T	c.(112-114)Gga>Tga	p.G38*	C15orf32_ENST00000556865.1_Nonsense_Mutation_p.G38*	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38								p.G38*(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAAC	0.542000													33	157					5.48756e-27	8.56392e-27	0.859065	1	0
MMD	23531	broad.mit.edu	37	17	53491543	53491543	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:53491543T>C	ENST00000262065.3	-	2	373	c.77A>G	c.(76-78)tAt>tGt	p.Y26C		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	26					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	p.Y26C(2)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGCATGTTCATAGCAAGTTGG	0.453000													21	206					0	0	0.706142	0	0
GLI1	2735	broad.mit.edu	37	12	57864243	57864243	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:57864243G>A	ENST00000228682.2	+	12	1811	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	GLI1_ENST00000546141.1_Missense_Mutation_p.G533R|GLI1_ENST00000543426.1_Missense_Mutation_p.G446R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	574					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.G574R(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCAGAGAATGGAGCATCCTC	0.632000													10	60					0	0	0.411799	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480376	37480376	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:37480376A>T	ENST00000381792.2	-	10	1295	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.D394E|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.D385E|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.D385E|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.D394E			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	394	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.D394E(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGCACGGCAAATCATACTTCT	0.617000													9	50					0	0	0.335167	0	0
MMRN1	22915	broad.mit.edu	37	4	90857222	90857222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:90857222C>G	ENST00000394980.1	+	7	2710	c.2391C>G	c.(2389-2391)aaC>aaG	p.N797K	MMRN1_ENST00000264790.2_Missense_Mutation_p.N797K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.N539K			Q13201	MMRN1_HUMAN	multimerin 1	797					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.N797K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAGATATAACTTTGTTTTGC	0.373000													11	50					0	0	0.387290	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57970609	57970609	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:57970609G>A	ENST00000225577.4	+	1	85	c.64G>A	c.(64-66)Gag>Aag	p.E22K	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E22K|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E22K|RPS6KB1_ENST00000393021.3_5'UTR	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	22					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	p.E22K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CAGGGAAGCTGAGGACATGGC	0.692000													4	18					0	0	0.184627	0	0
SALL2	6297	broad.mit.edu	37	14	21992890	21992890	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:21992890G>A	ENST00000327430.3	-	2	1266	c.972C>T	c.(970-972)acC>acT	p.T324T	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.T187T|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	324							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T324T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTAGTCCCGTGGTGCTTGGGA	0.627000													18	33					0	0	0.592651	0	0
MYH13	8735	broad.mit.edu	37	17	10204269	10204269	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10204269C>T	ENST00000418404.3	-	40	5979	c.5816G>A	c.(5815-5817)tGa>tAa	p.*1939*	MYH13_ENST00000252172.4_Silent_p.*1939*|MYH13_ENST00000570743.1_Silent_p.*1939*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	0					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.*1939*(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTGAGCCTCATTCTTCCAT	0.438000													20	190					0	0	0.667858	0	0
NPHS2	7827	broad.mit.edu	37	1	179520370	179520370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:179520370G>T	ENST00000367615.4	-	8	1158	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P296T|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding	p.P364T(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGGACTTGGGAAGGGGAGG	0.488000													18	183					4.47668e-21	6.54969e-21	0.667858	1	0
FAM129C	199786	broad.mit.edu	37	19	17664237	17664237	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:17664237T>C	ENST00000335393.4	+	16	2097	c.1959T>C	c.(1957-1959)tcT>tcC	p.S653S	FAM129C_ENST00000449408.2_Silent_p.S379S|FAM129C_ENST00000601861.1_Silent_p.S622S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	653								p.S653S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTCTGCTGTCTTGCAGCTGCT	0.527000													25	99					0	0	0.681144	0	0
USH2A	7399	broad.mit.edu	37	1	216062334	216062334	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216062334A>T	ENST00000366943.2	-	41	8043	c.7657T>A	c.(7657-7659)Tgg>Agg	p.W2553R	USH2A_ENST00000307340.3_Missense_Mutation_p.W2553R|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2553	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W2553R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGCTGCCAGGTGACCAAC	0.408000										HNSCC(13;0.011)			22	185					0	0	0.667858	0	0
FAM194A	131831	broad.mit.edu	37	3	150377865	150377865	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:150377865C>G	ENST00000295910.6	-	14	1858	c.1806G>C	c.(1804-1806)aaG>aaC	p.K602N	FAM194A_ENST00000491361.1_Missense_Mutation_p.K456N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	602								p.K602N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGACGGATCTTTATTAAAC	0.423000													43	177					0	0	0.870114	0	0
ANKRD26	22852	broad.mit.edu	37	10	27355419	27355419	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:27355419A>G	ENST00000376087.4	-	11	1431	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S	ANKRD26_ENST00000436985.2_Silent_p.S471S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	422						centrosome		p.S422S(2)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAAGTACCTCAGAATCCCAAG	0.318000													4	42					0	0	0.150653	0	0
C19orf40	91442	broad.mit.edu	37	19	33464996	33464996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:33464996G>C	ENST00000588258.1	+	4	384	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	C19orf40_ENST00000590281.1_Missense_Mutation_p.E92Q|C19orf40_ENST00000590179.1_5'UTR|C19orf40_ENST00000589646.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	92					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	p.E92Q(2)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418000								Direct reversal of damage					6	86					0	0	0.248553	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871586	31871586	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:31871586T>A	ENST00000396556.2	-	4	797	c.675A>T	c.(673-675)gcA>gcT	p.A225A	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	225					lipid transport		lipid binding	p.A225A(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTCGGGCGGCTGCAGGCGACT	0.587000													12	60					0	0	0.435327	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219383918	219383918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:219383918A>T	ENST00000366928.5	+	4	453	c.406A>T	c.(406-408)Aga>Tga	p.R136*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.R120*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	136						cytoplasm	lysophospholipase activity	p.R136*(2)		large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTTAGCATATAGAAATCATCA	0.303000													21	164					0	0	0.827153	0	0
C12orf36	283422	broad.mit.edu	37	12	13529158	13529158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:13529158C>A	ENST00000532841.1	-	2	305	c.182G>T	c.(181-183)aGg>aTg	p.R61M	C12orf36_ENST00000318426.2_Splice_Site_p.S61_splice|C12orf36_ENST00000539026.1_Splice_Site_p.R61_splice|C12orf36_ENST00000527705.2_Splice_Site_p.S61_splice					chromosome 12 open reading frame 36									p.S61I(2)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcccactcacctccacagcct	0.488000													24	266					1.45844e-13	1.88244e-13	0.769981	1	0
LRRC15	131578	broad.mit.edu	37	3	194081543	194081543	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:194081543G>A	ENST00000347624.3	-	2	315	c.230C>T	c.(229-231)tCa>tTa	p.S77L	LRRC15_ENST00000428839.1_Missense_Mutation_p.S83L|LRRC15_ENST00000439944.2_Missense_Mutation_p.S83L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	77						integral to membrane		p.S77L(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GATGAGGGCTGAGATATTGAG	0.587000													24	86					0	0	0.654019	0	0
OR6F1	343169	broad.mit.edu	37	1	247875336	247875336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:247875336C>A	ENST00000302084.2	-	1	769	c.722G>T	c.(721-723)tGc>tTc	p.C241F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGCGAGGAGCACGTGGAGAA	0.527000													47	325					7.36392e-32	1.18144e-31	0.870114	1	0
PEX12	5193	broad.mit.edu	37	17	33904575	33904575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:33904575G>T	ENST00000225873.4	-	2	769	c.162C>A	c.(160-162)ttC>ttA	p.F54L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	54					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.F54L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCCACAAGAAGCCATAGT	0.373000													54	176					1.31726e-23	2.00707e-23	0.870114	1	0
DUSP27	92235	broad.mit.edu	37	1	167088532	167088532	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:167088532C>A	ENST00000361200.2	+	5	650	c.484C>A	c.(484-486)Cac>Aac	p.H162N	DUSP27_ENST00000271385.5_Missense_Mutation_p.H162N|DUSP27_ENST00000443333.1_Missense_Mutation_p.H162N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	162					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.H162N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAATCACCCACATTCTGAA	0.562000													6	65					0.248553	0.250989	0.248553	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863748	64863748	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:64863748G>A	ENST00000313349.3	-	2	555	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	86					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.F86F(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGAGGGGGTGAACATGGGCC	0.632000													16	61					0	0	0.500413	0	0
GHDC	84514	broad.mit.edu	37	17	40344425	40344425	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:40344425C>T	ENST00000301671.8	-	4	1164	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GHDC_ENST00000436923.2_Silent_p.R241R|GHDC_ENST00000414034.3_Silent_p.R241R|GHDC_ENST00000593209.1_Silent_p.R241R|GHDC_ENST00000428494.2_Silent_p.R202R|GHDC_ENST00000587427.1_Silent_p.R241R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	241						endoplasmic reticulum|nuclear envelope		p.R241R(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTAGGGCCTCCCGGAGCTCAG	0.657000													7	33					0	0	0.361761	0	0
TTN	7273	broad.mit.edu	37	2	179584084	179584084	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:179584084T>C	ENST00000589042.1	-	83	24257	c.24033A>G	c.(24031-24033)tcA>tcG	p.S8011S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S6767S|TTN_ENST00000591111.1_Silent_p.S7694S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7694	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6767S(2)		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)			AAATCGGGGCTGAGCCAGAGA	0.498000													9	194					0	0	0.539581	0	0
BAI3	577	broad.mit.edu	37	6	69349249	69349249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:69349249G>T	ENST00000370598.1	+	3	1503	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	228					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G228C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGACAGAGGGCTGCCTGAC	0.537000													20	74					1.55795e-14	2.06789e-14	0.608945	1	0
HCST	10870	broad.mit.edu	37	19	36393498	36393498	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:36393498G>T	ENST00000246551.4	+	1	117	c.3G>T	c.(1-3)atG>atT	p.M1I	HCST_ENST00000437550.2_Start_Codon_SNP_p.M1I			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	1					regulation of immune response	integral to membrane|plasma membrane		p.M1I(2)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTCCACCATGATCCATCTGG	0.567000													56	321					3.95532e-38	6.46663e-38	0.870114	1	0
GDF5	8200	broad.mit.edu	37	20	34021748	34021748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:34021748G>T	ENST00000374372.1	-	4	1968	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K	GDF5_ENST00000374369.3_Missense_Mutation_p.Q489K|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	489					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.Q489K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCTCATACTGCTTATACACC	0.592000													15	104					1.33986e-20	1.93828e-20	0.681144	1	0
OR2T6	254879	broad.mit.edu	37	1	248551725	248551725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248551725G>T	ENST00000355728.2	+	1	816	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAAAGATAAGGTCTTCTCTG	0.473000													14	117					2.32078e-09	2.78602e-09	0.479597	1	0
TMEM47	83604	broad.mit.edu	37	X	34648523	34648523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:34648523C>A	ENST00000275954.3	-	3	711	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	151						integral to membrane		p.W151C(4)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCCATAACCCCAGTTGAACT	0.423000													12	79					0.0202918	0.0211544	0.457914	1	0
DUSP6	1848	broad.mit.edu	37	12	89743161	89743161	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:89743161T>A	ENST00000279488.7	-	3	2247	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	DUSP6_ENST00000547291.1_Missense_Mutation_p.Q214L|DUSP6_ENST00000308385.6_Missense_Mutation_p.Q193L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	339	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Q339L(2)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTCCAGCAGCTGACCCATGAA	0.478000													52	160					0	0	0.870114	0	0
DSC3	1825	broad.mit.edu	37	18	28604459	28604459	+	Splice_Site	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:28604459A>G	ENST00000434452.1	-	6	785	c.630_splice	c.e6-1	p.L211_splice	DSC3_ENST00000360428.4_Splice_Site_p.L211_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	211	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L211L(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAGCAATCAACTGCAAAATA	0.408000													9	67					0	0	0.307466	0	0
NID2	22795	broad.mit.edu	37	14	52507529	52507529	+	Silent	SNP	C	C	G	rs146481572		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:52507529C>G	ENST00000216286.5	-	8	1865	c.1866G>C	c.(1864-1866)ccG>ccC	p.P622P	NID2_ENST00000541773.1_Silent_p.P569P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	622	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.P622P(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTCCTCTCCCGGGTAGAATG	0.478000													60	180					0	0	0.870114	0	0
IL9R	3581	broad.mit.edu	37	X	155234092	155234092	+	Silent	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:155234092G>C	ENST00000424344.3	+	6	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L	IL9R_ENST00000244174.5_Silent_p.L147L|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000369423.2_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor	147					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTTAAGCTGGACCCGCCCT	0.547000													15	78					0	0	0.575678	0	0
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248737350C>G	ENST00000328782.2	-	1	730	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562000													57	447					0	0	0.870114	0	0
RUFY2	55680	broad.mit.edu	37	10	70156631	70156631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:70156631G>T	ENST00000388768.2	-	4	735	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	RUFY2_ENST00000602465.1_Missense_Mutation_p.L102M|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Missense_Mutation_p.L44M|RUFY2_ENST00000342616.4_Missense_Mutation_p.L102M	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	151	RUN.					nucleus	metal ion binding	p.L137M(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCTCGACCCAGAGGGGTCCTA	0.433000													16	66					3.99206e-14	5.24467e-14	0.557998	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921566	178921566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:178921566G>A	ENST00000263967.3	+	5	1205	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	350					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D350N(4)|p.D350H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAATATTCGAGACATTGATAA	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	56					0	0	0.307466	0	0
GALNT7	51809	broad.mit.edu	37	4	174219404	174219404	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:174219404C>T	ENST00000265000.4	+	6	1187	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	368					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T368T(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGCCTCTGACCCCTCAAGAGA	0.443000													9	70					0	0	0.387290	0	0
CSNK1D	1453	broad.mit.edu	37	17	80223565	80223565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:80223565C>T	ENST00000314028.6	-	2	533	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CSNK1D_ENST00000398519.5_Missense_Mutation_p.G62R|CSNK1D_ENST00000392334.2_Missense_Mutation_p.G62R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	62	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G62R(6)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GACCTACCTCCTCCCTGCATC	0.458000													17	172					0	0	0.539581	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555733	125555733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:125555733C>A	ENST00000431078.1	+	19	3414	c.3050C>A	c.(3049-3051)cCt>cAt	p.P1017H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1017	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P1017H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAACCCTATCCTGTGACCAAG	0.443000													7	58					0.27861	0.280791	0.278610	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090685	238090685	+	RNA	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:238090685G>C	ENST00000450451.1	+	0	2191					NR_027247.2																						GGCTGGCAGGGACCTGACAGG	0.622000													8	32					0	0	0.387290	0	0
PKHD1	5314	broad.mit.edu	37	6	51768419	51768419	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:51768419G>C	ENST00000371117.3	-	43	7247	c.6972C>G	c.(6970-6972)atC>atG	p.I2324M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I2324M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2324					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I2324M(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGACTGCAGATATAGATGC	0.453000													97	614					0	0	0.870114	0	0
GPC6	10082	broad.mit.edu	37	13	94482465	94482465	+	Silent	SNP	G	G	T	rs149069159		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:94482465G>T	ENST00000377047.4	+	3	993	c.378G>T	c.(376-378)cgG>cgT	p.R126R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R126R(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTTTGTACGGACCTATGGCA	0.398000													12	64					3.03607e-14	4.00917e-14	0.411799	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111896616	111896616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:111896616G>T	ENST00000375741.2	+	9	1238	c.988G>T	c.(988-990)Gta>Tta	p.V330L	ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V152L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V237L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V227L|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V309L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V152L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V152L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V152L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V74L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V280L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	330	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.V309L(2)|p.V152L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAATGCTCGTACAGTCTTT	0.313000													13	129					1.45105e-14	1.93099e-14	0.539581	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952637	119952637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:119952637C>T	ENST00000307142.4	+	4	2903	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P903S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P903S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	903						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.P903S(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTCAGTCTCCCACTCCATC	0.567000													6	98					0	0	0.217242	0	0
TRPM3	80036	broad.mit.edu	37	9	73426112	73426112	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:73426112C>A	ENST00000377106.1	-	7	917	c.563G>T	c.(562-564)tGg>tTg	p.W188L	TRPM3_ENST00000423814.3_Missense_Mutation_p.W343L|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.W188L|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.W188L|TRPM3_ENST00000358082.3_Missense_Mutation_p.W188L|TRPM3_ENST00000396292.4_Missense_Mutation_p.W188L|TRPM3_ENST00000357533.2_Intron	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	341						integral to membrane	calcium channel activity	p.W188L(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAACTACCCCAAAATGAATA	0.358000													4	26					0.00024832	0.000268102	0.150653	1	0
RALYL	138046	broad.mit.edu	37	8	85774568	85774568	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:85774568C>G	ENST00000521268.1	+	6	1556	c.451C>G	c.(451-453)Cgt>Ggt	p.R151G	RALYL_ENST00000521376.1_Missense_Mutation_p.R62G|RALYL_ENST00000517638.1_Missense_Mutation_p.R164G|RALYL_ENST00000518566.1_Missense_Mutation_p.R140G|RALYL_ENST00000523850.1_Missense_Mutation_p.R78G|RALYL_ENST00000521695.1_Missense_Mutation_p.R151G|RALYL_ENST00000522455.1_Missense_Mutation_p.R151G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							identical protein binding|nucleotide binding|RNA binding	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502000													11	22					0	0	0.435327	0	0
C1orf105	92346	broad.mit.edu	37	1	172437600	172437600	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:172437600T>A	ENST00000367727.4	+	7	616	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.Y130N	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	140								p.Y140N(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AAGCATTCACTACAGACTGCC	0.443000													55	368					0	0	0.870114	0	0
C1orf105	92346	broad.mit.edu	37	1	172437623	172437623	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:172437623C>A	ENST00000367727.4	+	7	639	c.441C>A	c.(439-441)ccC>ccA	p.P147P	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.P137P	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	147								p.P147P(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTCTGGGCCCCAGGACAGCTG	0.443000													54	449					5.62145e-24	8.6162e-24	0.870114	1	0
SLAIN2	57606	broad.mit.edu	37	4	48381849	48381849	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:48381849C>G	ENST00000264313.6	+	4	1264	c.846C>G	c.(844-846)gcC>gcG	p.A282A	SLAIN2_ENST00000512093.1_Silent_p.A89A	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	282						centrosome		p.A282A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGATTCTAGCCCGGATGCAGG	0.308000													44	252					0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141708386	141708386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:141708386G>A	ENST00000475668.2	+	3	262	c.208G>A	c.(208-210)Gct>Act	p.A70T	MGAM_ENST00000549489.2_Missense_Mutation_p.A70T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	70	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A70T(8)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCACACATGCTAGGACAAC	0.498000													26	116					0	0	0.740014	0	0
ZNF479	90827	broad.mit.edu	37	7	57188289	57188289	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:57188289A>T	ENST00000331162.4	-	5	1103	c.833T>A	c.(832-834)tTt>tAt	p.F278Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F278Y(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGAGCGCCTAAAGGCTTGGCC	0.458000													6	73					0	0	0.248553	0	0
TSIX	9383	broad.mit.edu	37	X	73042079	73042079	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:73042079G>T	ENST00000604411.1	+	0	30040				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTATTATAAGGAGAGTTCCTG	0.453000													20	50					1.00905e-13	1.30897e-13	0.575678	1	0
REST	5978	broad.mit.edu	37	4	57796165	57796165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:57796165G>C	ENST00000309042.7	+	4	1455	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	381					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.E381Q(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAACATGTAGAGCTACATGT	0.428000													48	218					0	0	0.870114	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952305	95952305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:95952305G>C	ENST00000342697.4	-	3	663	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	TP53INP1_ENST00000378776.4_Missense_Mutation_p.Q86E|TP53INP1_ENST00000448464.2_Missense_Mutation_p.Q86E|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	86					apoptosis	PML body		p.Q86E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GACTCAAACTGGAGAAAGCAG	0.473000													16	95					0	0	0.539581	0	0
GRM7	2917	broad.mit.edu	37	3	7348280	7348280	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:7348280A>G	ENST00000486284.1	+	4	1248	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	GRM7_ENST00000403881.1_Missense_Mutation_p.Q325R|GRM7_ENST00000389336.4_Missense_Mutation_p.Q325R|GRM7_ENST00000357716.4_Missense_Mutation_p.Q325R|GRM7_ENST00000402647.2_Missense_Mutation_p.Q325R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	325					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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.Q325R(2)		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)	CCACTGCACCAGCATGAAGAT	0.517000													24	102					0	0	0.639603	0	0
CDH6	1004	broad.mit.edu	37	5	31322949	31322949	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:31322949T>A	ENST00000265071.2	+	12	2172	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L636Q(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTGCAGCTCTGAGGCGGCAG	0.448000													42	170					0	0	0.870114	0	0
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408000													38	231					0	0	0.834066	0	0
MAT1A	4143	broad.mit.edu	37	10	82043734	82043734	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:82043734A>T	ENST00000372213.3	-	3	490	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	77					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.V77E(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGGTAGTCCACCATGGCCAT	0.592000													18	80					0	0	0.575678	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862065	128862065	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:128862065G>C	ENST00000274487.4	+	4	1129	c.984G>C	c.(982-984)gaG>gaC	p.E328D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	328	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E328D(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAACATAGAGACTGTAGTGG	0.393000													12	138					0	0	0.457914	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10408756G>T	ENST00000226207.5	-	20	2341	c.2247C>A	c.(2245-2247)ctC>ctA	p.L749L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACCCCAGGAGCTTCTCTG	0.403000													17	182					2.94398e-08	3.4458e-08	0.557998	1	0
LRRC8C	84230	broad.mit.edu	37	1	90179864	90179864	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:90179864C>T	ENST00000370454.4	+	3	1990	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	579						endoplasmic reticulum membrane|integral to membrane		p.L579L(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGCACCAAGCTGGTGATGCT	0.463000													30	220					0	0	0.750413	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005823	118005823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:118005823C>T	ENST00000310754.4	-	1	913	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	243	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D243N(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TACTTTTCATCACTAAAGTAA	0.388000													12	69					0	0	0.411799	0	0
ENPP7	339221	broad.mit.edu	37	17	77710992	77710992	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:77710992G>A	ENST00000328313.5	+	4	1400	c.1179G>A	c.(1177-1179)cgG>cgA	p.R393R		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	393					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATGTGCCGGCTGCTGGGCA	0.647000													3	29					0	0	0.115264	0	0
FLVCR2	55640	broad.mit.edu	37	14	76108196	76108196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:76108196G>C	ENST00000238667.4	+	9	1820	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.K203N|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000539311.1_Missense_Mutation_p.K283N	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	488					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.K488N(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATTCATTAAGGCAGATCTCC	0.433000													29	227					0	0	0.796494	0	0
ZNF536	9745	broad.mit.edu	37	19	30936620	30936620	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:30936620C>A	ENST00000355537.3	+	2	2298	c.2151C>A	c.(2149-2151)ccC>ccA	p.P717P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P717P(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCGCACCCCTCCTCGCCAT	0.682000													8	31					0.00448238	0.00473038	0.307466	1	0
FHOD3	80206	broad.mit.edu	37	18	34324149	34324149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:34324149C>A	ENST00000257209.4	+	20	3631	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S1153*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S1132*|FHOD3_ENST00000592128.1_Nonsense_Mutation_p.S149*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S1345*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1153	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S1170*(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCACCAGGTCAGCCAAGGTA	0.562000													37	278					1.6237e-14	2.14962e-14	0.864702	1	0
ATP11C	286410	broad.mit.edu	37	X	138825775	138825775	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:138825775T>C	ENST00000370557.1	-	26	3991	c.2964A>G	c.(2962-2964)ggA>ggG	p.G988G	ATP11C_ENST00000359686.2_Silent_p.G994G|ATP11C_ENST00000361648.2_Silent_p.G994G|ATP11C_ENST00000327569.3_Silent_p.G994G|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.G994G			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	994					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G994G(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGTCCAGTTTCCGTATACCT	0.264000													5	16					0	0	0.248553	0	0
SCD5	79966	broad.mit.edu	37	4	83626448	83626448	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:83626448G>A	ENST00000319540.4	-	2	670	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCD5_ENST00000282709.4_Silent_p.S117S|SCD5_ENST00000273908.4_Silent_p.S117S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	117					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.S117S(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAAAGCCATGGAGTTGGCGA	0.607000													13	89					0	0	0.520397	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303752	46303752	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:46303752A>G	ENST00000221538.3	-	5	2010	c.1868T>C	c.(1867-1869)gTt>gCt	p.V623A	RSPH6A_ENST00000597055.1_Missense_Mutation_p.V623A|RSPH6A_ENST00000600188.1_Missense_Mutation_p.V359A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	623	Glu-rich.					intracellular		p.V623A(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGAGCGCACAACGGCCACTGA	0.637000													4	22					0	0	0.184627	0	0
LRRC6	23639	broad.mit.edu	37	8	133637568	133637568	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:133637568C>A	ENST00000519595.1	-	6	884	c.786G>T	c.(784-786)ttG>ttT	p.L262F	LRRC6_ENST00000518642.1_Missense_Mutation_p.L262F|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.L262F			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	262						cytoplasm		p.L262F(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAAGAGTTTCCAATCTTGATT	0.383000													61	243					3.6896e-23	5.58866e-23	0.870114	1	0
TFDP3	51270	broad.mit.edu	37	X	132351141	132351141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:132351141G>T	ENST00000310125.4	-	1	1235	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P383T(2)|p.P323T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCGACTGCTGGGGTCTCCACC	0.562000													63	152					3.36522e-66	5.70094e-66	0.870114	1	0
PASD1	139135	broad.mit.edu	37	X	150841089	150841089	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:150841089C>G	ENST00000370357.4	+	14	2117	c.1872C>G	c.(1870-1872)ttC>ttG	p.F624L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	624						nucleus	signal transducer activity	p.F624L(4)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCTTCTATCAAGATG	0.473000													45	111					0	0	0.870114	0	0
DNAH9	1770	broad.mit.edu	37	17	11520764	11520764	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:11520764T>C	ENST00000262442.3	+	5	1009	c.941T>C	c.(940-942)aTa>aCa	p.I314T	DNAH9_ENST00000454412.2_Missense_Mutation_p.I314T|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	314	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I314T(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCACCTGATACCGCTCCAG	0.587000													7	38					0	0	0.278610	0	0
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:107973450A>C	ENST00000370068.1	+	6	2012	c.1166A>C	c.(1165-1167)cAc>cCc	p.H389P	NTNG1_ENST00000370073.2_Missense_Mutation_p.H389P|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.H389P|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453000													6	66					0	0	0.217242	0	0
CCDC57	284001	broad.mit.edu	37	17	80151915	80151915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:80151915C>A	ENST00000389641.4	-	5	755	c.719G>T	c.(718-720)aGg>aTg	p.R240M	CCDC57_ENST00000392347.1_Missense_Mutation_p.R240M|CCDC57_ENST00000392343.3_Missense_Mutation_p.R240M			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	240								p.R240M(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGGAGCTTCCTCTCCAGCTC	0.652000													12	29					3.27435e-08	3.80653e-08	0.457914	1	0
DNAI2	64446	broad.mit.edu	37	17	72297289	72297289	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:72297289G>A	ENST00000579490.1	+	7	1275	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	DNAI2_ENST00000307504.5_Silent_p.L180L|DNAI2_ENST00000582036.1_Silent_p.L323L|DNAI2_ENST00000446837.2_Silent_p.L323L|DNAI2_ENST00000311014.6_Silent_p.L323L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	323					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.L323L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCATCTCCCTGGAGTTCGAAT	0.527000									Kartagener syndrome				50	192					0	0	0.870114	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111929984	111929984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:111929984G>C	ENST00000375741.2	+	14	1783	c.1533G>C	c.(1531-1533)ttG>ttC	p.L511F	ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L333F|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L418F|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L408F|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.L167F|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L490F|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L333F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L333F|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L333F|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L255F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L461F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	511	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L333F(2)|p.L490F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTAATGTTGTCTGCCAGTC	0.294000													10	82					0	0	0.500413	0	0
MUC5B	727897	broad.mit.edu	37	11	1271072	1271072	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:1271072C>A	ENST00000447027.1	+	31	13029	c.12971C>A	c.(12970-12972)aCc>aAc	p.T4324N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4321N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4321	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4321N(2)|p.T4276N(2)		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)		TCCACAGCTACCAGCGTTACA	0.607000													4	47					0.00024832	0.000268102	0.150653	1	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:127727777T>A	ENST00000508053.1	-	17	2511	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_ENST00000262464.4_Missense_Mutation_p.T513S|FBN2_ENST00000508989.1_Missense_Mutation_p.T480S			P35556	FBN2_HUMAN	fibrillin 2	513	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T513S(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGAGACAGTTGGTATACAG	0.348000													55	121					0	0	0.870114	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239224	160239224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:160239224G>A	ENST00000392783.2	-	25	4346	c.3851C>T	c.(3850-3852)cCc>cTc	p.P1284L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1248L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1250L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1184L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P1284L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCTGGAGTGGGTGTGCCCAA	0.468000													9	66					0	0	0.361761	0	0
SEH1L	81929	broad.mit.edu	37	18	12971215	12971215	+	Silent	SNP	C	C	T	rs142041554	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:12971215C>T	ENST00000262124.11	+	5	712	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SEH1L_ENST00000399892.2_Silent_p.A195A	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	195					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		p.A195A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						ACGCAATGGCCAAGGTTCAGA	0.373000													4	72					0	0	0.184627	0	0
ITGAX	3687	broad.mit.edu	37	16	31391186	31391186	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31391186G>T	ENST00000268296.4	+	25	3097		c.e25+1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCAGGTACCCAAGGA	0.587000													7	25					2.17888e-05	2.3977e-05	0.335167	1	0
ANGEL1	23357	broad.mit.edu	37	14	77273815	77273815	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:77273815G>A	ENST00000251089.2	-	4	1019	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	303								p.H303Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCAGTAATGATCTTCCTGG	0.522000													15	74					0	0	0.608945	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632830	28632830	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:28632830G>A	ENST00000526619.2	+	14	1771	c.756G>A	c.(754-756)agG>agA	p.R252R	GOLGA8F_ENST00000532622.2_Silent_p.R466R|GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000450328.2_Silent_p.R248R														p.R466R(2)		lung(4)	4						TGGAGAGCAGGGAGGCCATGG	0.602000													17	241					0	0	0.760397	0	0
NSRP1	84081	broad.mit.edu	37	17	28511912	28511912	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:28511912T>G	ENST00000247026.5	+	7	960	c.897T>G	c.(895-897)agT>agG	p.S299R	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	299	His-rich.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	p.S299R(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAGGGCACAGTACCAGGCACC	0.498000													30	147					0	0	0.779181	0	0
CCDC178	374864	broad.mit.edu	37	18	30791950	30791950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:30791950C>G	ENST00000383096.3	-	20	2330	c.2148G>C	c.(2146-2148)gaG>gaC	p.E716D	CCDC178_ENST00000583930.1_Missense_Mutation_p.E716D|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.E716D|CCDC178_ENST00000402325.1_Missense_Mutation_p.E716D|CCDC178_ENST00000406524.2_Missense_Mutation_p.E716D|CCDC178_ENST00000579947.1_Missense_Mutation_p.E716D|CCDC178_ENST00000300227.8_Missense_Mutation_p.E678D					coiled-coil domain containing 178									p.E716D(2)|p.E678D(2)									AGTCTTTTTTCTCTTGCATAT	0.343000													11	53					0	0	0.435327	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554394	140554394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:140554394G>C	ENST00000231137.3	+	1	2152	c.1978G>C	c.(1978-1980)Gtg>Ctg	p.V660L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V660L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.711000													5	60					0	0	0.435327	0	0
CSDE1	7812	broad.mit.edu	37	1	115267878	115267878	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:115267878T>C	ENST00000438362.2	-	15	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	CSDE1_ENST00000339438.6_Missense_Mutation_p.K542E|CSDE1_ENST00000261443.5_Missense_Mutation_p.K542E|CSDE1_ENST00000358528.4_Missense_Mutation_p.K573E|CSDE1_ENST00000534699.1_Missense_Mutation_p.K573E|CSDE1_ENST00000530886.1_Missense_Mutation_p.K443E|CSDE1_ENST00000369530.1_Missense_Mutation_p.K588E	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	573	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.K573E(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GCACTGACTTTGTTGCCTTTG	0.413000													27	426					0	0	0.729181	0	0
ATR	545	broad.mit.edu	37	3	142188251	142188251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:142188251C>G	ENST00000350721.4	-	38	6601	c.6480G>C	c.(6478-6480)ttG>ttC	p.L2160F	ATR_ENST00000383101.3_Missense_Mutation_p.L2096F|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2160	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L2160F(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTATTTCCATCAAGACAACAA	0.348000								Other conserved DNA damage response genes					38	298					0	0	0.870114	0	0
PTPRD	5789	broad.mit.edu	37	9	8465591	8465591	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:8465591C>A	ENST00000381196.4	-	29	4132	c.3589G>T	c.(3589-3591)Gat>Tat	p.D1197Y	PTPRD_ENST00000356435.5_Missense_Mutation_p.D1197Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1197Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D783Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1175Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1184Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.D786Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D783Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D786Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1197					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1197Y(4)|p.D668Y(2)|p.D786Y(2)		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)		GGAAGGACATCAAAGTGAGCG	0.423000										TSP Lung(15;0.13)			63	300					3.8128e-34	6.1943e-34	0.870114	1	0
OR4C3	256144	broad.mit.edu	37	11	48347153	48347153	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:48347153G>A	ENST00000319856.4	+	1	682	c.661G>A	c.(661-663)Ggt>Agt	p.G221S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G221S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTATGTCATTGGTCTGCTGGT	0.507000													49	245					0	0	0.870114	0	0
KNDC1	85442	broad.mit.edu	37	10	135024994	135024994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:135024994G>T	ENST00000304613.3	+	22	3998	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	KNDC1_ENST00000368572.2_Missense_Mutation_p.W1328L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1326	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.W1326L(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGCAGGCCTGGGTGGAGGAC	0.647000													13	46					1.49906e-05	1.66383e-05	0.457914	1	0
IFI16	3428	broad.mit.edu	37	1	158988299	158988299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158988299C>A	ENST00000295809.7	+	5	1085	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	IFI16_ENST00000368131.4_Missense_Mutation_p.S277Y|IFI16_ENST00000448393.2_Missense_Mutation_p.S277Y|IFI16_ENST00000340979.6_Missense_Mutation_p.S277Y|IFI16_ENST00000359709.3_Missense_Mutation_p.S221Y|IFI16_ENST00000430894.2_Missense_Mutation_p.S225Y|IFI16_ENST00000368132.3_Missense_Mutation_p.S277Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	277	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.S277Y(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AATGAAGAATCTACTGTATCT	0.343000													16	115					1.67942e-08	1.97917e-08	0.539581	1	0
SYDE2	84144	broad.mit.edu	37	1	85648858	85648858	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:85648858A>G	ENST00000341460.5	-	3	1516	c.1467T>C	c.(1465-1467)aaT>aaC	p.N489N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	489					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.N489N(2)|p.N411N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCAGTACTATTTGTAGCAG	0.318000													14	131					0	0	0.557998	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543774	54543774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:54543774C>G	ENST00000566473.2	+	14	1624	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.H542D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	542								p.H542D(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAAGATCGACATGGAAACAT	0.403000													28	199					0	0	0.788014	0	0
MACROD2	140733	broad.mit.edu	37	20	14066278	14066278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:14066278C>T	ENST00000217246.4	+	3	570	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.Q59*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	59	Macro.							p.Q59*(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAAATACTCAGGAAACATC	0.318000													11	33					0	0	0.411799	0	0
CELSR2	1952	broad.mit.edu	37	1	109812142	109812142	+	Silent	SNP	G	G	A	rs150014940		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:109812142G>A	ENST00000271332.3	+	21	6970	c.6909G>A	c.(6907-6909)acG>acA	p.T2303T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2303					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.T2303T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCCGTCACGGTGCAGTTCC	0.607000													14	52					0	0	0.457914	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31384649G>T	ENST00000268296.4	+	20	2567	c.2446G>T	c.(2446-2448)Gga>Tga	p.G816*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.G816*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACTCCTACGGAACCACCAT	0.607000													21	136					2.79863e-10	3.41539e-10	0.681144	1	0
NAA16	79612	broad.mit.edu	37	13	41892955	41892955	+	Missense_Mutation	SNP	G	G	C	rs143056243	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:41892955G>C	ENST00000379406.3	+	3	477	c.153G>C	c.(151-153)atG>atC	p.M51I	NAA16_ENST00000379367.3_Missense_Mutation_p.M51I|NAA16_ENST00000403412.3_Missense_Mutation_p.M51I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	51					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.M51I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTTTGGCTATGAAAGGATTAA	0.294000													14	71					0	0	0.457914	0	0
CCL14	6358	broad.mit.edu	37	17	34310883	34310883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:34310883C>A	ENST00000480944.2	-	2	2708	c.302G>T	c.(301-303)aGt>aTt	p.S101I	CCL14_ENST00000586216.1_3'UTR|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Missense_Mutation_p.S95I|CCL14_ENST00000394509.4_Missense_Mutation_p.S79I|CCL14_ENST00000435911.2_Missense_Mutation_p.S95I			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	79					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.S79I(2)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTTGTCACTGGGGTTGGT	0.547000													16	207					1.15919e-05	1.29778e-05	0.575678	1	0
COL4A6	1288	broad.mit.edu	37	X	107447623	107447623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:107447623C>G	ENST00000334504.7	-	12	940	c.707G>C	c.(706-708)gGc>gCc	p.G236A	COL4A6_ENST00000545689.1_Missense_Mutation_p.G236A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G236A|COL4A6_ENST00000372216.4_Missense_Mutation_p.G237A|COL4A6_ENST00000394872.2_Missense_Mutation_p.G234A	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	237	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G236A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGCTGGGCCAGGGAGGCC	0.478000									Alport syndrome with Diffuse Leiomyomatosis				16	44					0	0	0.608945	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319215	154319215	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:154319215C>T	ENST00000368489.3	+	26	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1067					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1081P(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGTTTCCCAACCAGTTCC	0.517000													61	300					0	0	0.870114	0	0
TFDP3	51270	broad.mit.edu	37	X	132351139	132351139	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:132351139T>C	ENST00000310125.4	-	1	1237	c.1149A>G	c.(1147-1149)ccA>ccG	p.P383P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P323P(2)|p.P383P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCGACTGCTGGGGTCTCCA	0.562000													63	153					0	0	0.870114	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479746	12479746	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:12479746C>G	ENST00000409402.4	-	10	1623	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	SPIRE1_ENST00000383356.2_Missense_Mutation_p.K279N|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K318N|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.K438N|SPIRE1_ENST00000309836.5_Missense_Mutation_p.K241N	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	452						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.K279N(2)|p.K452N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTCTGAGGAGCTTCTTCCGCT	0.517000													21	122					0	0	0.575678	0	0
SYPL2	284612	broad.mit.edu	37	1	110019410	110019410	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:110019410C>A	ENST00000369872.3	+	4	483	c.267C>A	c.(265-267)atC>atA	p.I89I	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.I89I	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	89	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.I89I(2)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCACCGGATCCAATATGAGA	0.592000													14	68					1.49906e-05	1.66383e-05	0.457914	1	0
STARD10	10809	broad.mit.edu	37	11	72492187	72492187	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:72492187G>A	ENST00000334805.6	-	2	959	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	STARD10_ENST00000545082.1_Missense_Mutation_p.R14W|STARD10_ENST00000543304.1_Missense_Mutation_p.R14W|STARD10_ENST00000538536.1_Missense_Mutation_p.R14W|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	14	START.							p.R14W(2)		endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGACCGGCCGAGGCCCTTGG	0.667000													7	25					0	0	0.248553	0	0
DHTKD1	55526	broad.mit.edu	37	10	12136268	12136268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:12136268C>G	ENST00000263035.4	+	7	1418	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	452					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I452M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACAAAATCATCAGGTACAATT	0.408000													6	76					0	0	0.335167	0	0
NCKAP5	344148	broad.mit.edu	37	2	133887593	133887593	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:133887593G>T	ENST00000409261.1	-	6	671	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	NCKAP5_ENST00000409213.1_Missense_Mutation_p.R100S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R100S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R100S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	100							protein binding	p.R100S(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATTCTGTTGCGTTCAGACTCT	0.478000													4	78					0.150653	0.153942	0.150653	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121608168	121608168	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:121608168T>C	ENST00000393386.2	+	3	699	c.288T>C	c.(286-288)caT>caC	p.H96H	PTPRZ1_ENST00000449182.1_Silent_p.H96H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	96	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.H96H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATTCATTCATAACACTGGGA	0.303000													29	109					0	0	0.788014	0	0
USP9X	8239	broad.mit.edu	37	X	41064746	41064746	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:41064746G>T	ENST00000324545.7	+	32	5648	c.5015_splice	c.e32+1	p.R1672_splice	USP9X_ENST00000378308.2_Splice_Site_p.R1672_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1672					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.R1672M(2)|p.R1665M(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACAGTTCAGGTAAACTATG	0.373000													86	189					7.30829e-53	1.22999e-52	0.870114	1	0
GFI1	2672	broad.mit.edu	37	1	92948493	92948493	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:92948493C>T	ENST00000370332.1	-	3	544	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GFI1_ENST00000427103.1_Missense_Mutation_p.E76K|GFI1_ENST00000294702.5_Missense_Mutation_p.E76K	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	76				DSCEG -> RQLRS (in Ref. 1; AAB37272).	negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E76K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		ACGCTGCCTTCGCAGCTGTCT	0.662000													11	19					0	0	0.387290	0	0
DOCK2	1794	broad.mit.edu	37	5	169506137	169506137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:169506137C>A	ENST00000256935.8	+	49	5233	c.5153C>A	c.(5152-5154)tCg>tAg	p.S1718*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.S1210*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.S779*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1718					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1718*(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCAGAGTCGGACCTGAAG	0.567000													3	10					0.000602214	0.000644783	0.184627	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373000													15	63					0	0	0.539581	0	0
PDSS2	57107	broad.mit.edu	37	6	107531724	107531724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:107531724C>G	ENST00000369037.4	-	6	1204	c.927G>C	c.(925-927)atG>atC	p.M309I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.M309I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GATTAAAAGTCATGGAGTCAC	0.328000													4	30					0	0	0.150653	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667813	106667813	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:106667813G>T	ENST00000390606.2	-	0	180																											GGCTGCACAGGAGAGTCTCAG	0.572000													40	279					1.62263e-30	2.57917e-30	0.870114	1	0
SLC7A7	9056	broad.mit.edu	37	14	23242826	23242826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:23242826G>T	ENST00000397532.3	-	10	2054	c.1529C>A	c.(1528-1530)tCt>tAt	p.S510Y	SLC7A7_ENST00000555702.1_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S244Y|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S510Y|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S510Y|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S510Y			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	510					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.S510Y(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TGTTTAGTTAGATTTGGGATC	0.488000													36	111					7.53189e-24	1.15102e-23	0.834066	1	0
M6PR	4074	broad.mit.edu	37	12	9096396	9096396	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:9096396C>A	ENST00000000412.3	-	4	922		c.e4+1			NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)						endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	p.?(6)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		GGGTGCCTCACCGCTAGGGTG	0.532000													24	192					1.75199e-13	2.25568e-13	0.717897	1	0
ITPR1	3708	broad.mit.edu	37	3	4748018	4748018	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:4748018A>C	ENST00000302640.8	+	36	5130	c.4780A>C	c.(4780-4782)Atc>Ctc	p.I1594L	ITPR1_ENST00000443694.2_Missense_Mutation_p.I1594L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I1585L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I1600L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.I1600L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I1609L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1609					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.I1585L(2)|p.I1600L(2)|p.I1594L(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTACCGGAATATCATTGAGAG	0.542000													15	67					0	0	0.479597	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878986	24878986	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:24878986A>T	ENST00000382554.3	+	4	2304	c.1986A>T	c.(1984-1986)gcA>gcT	p.A662A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	662					DNA integration	integral to membrane	DNA binding	p.A662A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTTCCAAAGCACCTGCAGCTC	0.562000													7	31					0	0	0.307466	0	0
SYN3	8224	broad.mit.edu	37	22	32934062	32934062	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:32934062T>C	ENST00000358763.2	-	9	1194	c.952A>G	c.(952-954)Aca>Gca	p.T318A	SYN3_ENST00000332840.5_Missense_Mutation_p.T318A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	318	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T318A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGAGCCTGTGTTGGCCTTC	0.527000													47	286					0	0	0.870114	0	0
GFRA3	2676	broad.mit.edu	37	5	137593429	137593429	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:137593429C>A	ENST00000274721.3	-	4	930	c.684G>T	c.(682-684)ggG>ggT	p.G228G	GFRA3_ENST00000378362.3_Silent_p.G197G	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	228					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGCGCTCCCCGCAGCCCC	0.706000													11	19					5.50884e-06	6.20799e-06	0.411799	1	0
SPTBN5	51332	broad.mit.edu	37	15	42150888	42150888	+	Missense_Mutation	SNP	G	G	A	rs890503	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:42150888G>A	ENST00000320955.6	-	49	8365	c.8138C>T	c.(8137-8139)aCa>aTa	p.T2713I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.T2713I(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCATGGCTGTGTCCAGCAA	0.632000													3	7					0	0	0.150653	0	0
KRBA1	84626	broad.mit.edu	37	7	149419947	149419947	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:149419947G>T	ENST00000255992.10	+	7	1071	c.672G>T	c.(670-672)cgG>cgT	p.R224R	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Silent_p.R224R|KRBA1_ENST00000319551.8_Silent_p.R224R	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	224								p.R224R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCCCCGGCACCCCGAGA	0.637000													10	49					1.61879e-10	1.99444e-10	0.411799	1	0
MMP16	4325	broad.mit.edu	37	8	89053922	89053922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:89053922C>A	ENST00000286614.6	-	10	1872	c.1591G>T	c.(1591-1593)Ggc>Tgc	p.G531C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	531	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G531C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATCACAGCCCATAAAATCC	0.428000													61	180					7.73544e-29	1.21827e-28	0.870114	1	0
CNGA4	1262	broad.mit.edu	37	11	6262724	6262724	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:6262724T>A	ENST00000379936.2	+	5	1096	c.981T>A	c.(979-981)ccT>ccA	p.P327P	CNGA4_ENST00000533426.1_Silent_p.P96P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	327					response to stimulus|sensory perception of smell		cAMP binding	p.P327P(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTTGCCTGAGCGGCTGC	0.562000													75	402					0	0	0.870114	0	0
USP32	84669	broad.mit.edu	37	17	58256678	58256678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:58256678C>A	ENST00000300896.4	-	34	4947	c.4753G>T	c.(4753-4755)Gac>Tac	p.D1585Y	USP32_ENST00000592339.1_Missense_Mutation_p.D1255Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1585					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D1585Y(2)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTTGTGTCTGCCATCTTT	0.448000													48	148					3.48956e-15	4.70451e-15	0.870114	1	0
PRKG2	5593	broad.mit.edu	37	4	82096115	82096115	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:82096115T>A	ENST00000395578.1	-	3	578		c.e3-2		PRKG2_ENST00000264399.1_Splice_Site|RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000418486.2_Splice_Site|RP11-100N20.1_ENST00000505175.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II						platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.?(4)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTCTTCTCACTGGTATAATGG	0.318000													33	199					0	0	0.796494	0	0
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:101795440G>A	ENST00000251127.6	-	17	2190	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	703						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I703I(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468000													58	315					0	0	0.870114	0	0
MICAL2	9645	broad.mit.edu	37	11	12244189	12244189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:12244189C>T	ENST00000256194.4	+	11	1636	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	MICAL2_ENST00000537344.1_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000527546.1_Nonsense_Mutation_p.Q450*	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	450						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.Q450*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCTGTTACCTCAGACAACCCC	0.567000													6	82					0	0	0.217242	0	0
MUC16	94025	broad.mit.edu	37	19	9049935	9049935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9049935C>G	ENST00000397910.4	-	5	31899	c.31696G>C	c.(31696-31698)Gag>Cag	p.E10566Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10568	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10566Q(2)|p.E6199Q(2)		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						GCTGTGGTCTCTGATTCTCTA	0.488000													88	519					0	0	0.870114	0	0
MGAT4A	11320	broad.mit.edu	37	2	99261914	99261914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:99261914T>C	ENST00000393487.1	-	9	1179	c.866A>G	c.(865-867)gAg>gGg	p.E289G	MGAT4A_ENST00000264968.2_Missense_Mutation_p.E289G|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E289G|MGAT4A_ENST00000414521.2_Missense_Mutation_p.E161G	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	289					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.E289G(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTGGGAAAACTCTAGAATCAT	0.323000													5	77					0	0	0.248553	0	0
COL4A6	1288	broad.mit.edu	37	X	107418937	107418937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:107418937C>A	ENST00000334504.7	-	29	3010	c.2777G>T	c.(2776-2778)gGa>gTa	p.G926V	COL4A6_ENST00000545689.1_Missense_Mutation_p.G926V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G926V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G927V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G927V	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	927	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G926V(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCAGTTGATCCTGGAATTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				6	27					0.217242	0.221106	0.217242	1	0
MMP20	9313	broad.mit.edu	37	11	102464323	102464323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:102464323G>T	ENST00000260228.2	-	8	1106	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	365	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P365H(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGTAGTGGGGACCTGAAAA	0.418000													28	143					1.08312e-15	1.47568e-15	0.740014	1	0
HIPK2	28996	broad.mit.edu	37	7	139259969	139259969	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:139259969C>A	ENST00000406875.3	-	14	3125	c.3031G>T	c.(3031-3033)Ggt>Tgt	p.G1011C	HIPK2_ENST00000428878.2_Missense_Mutation_p.G984C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1011	Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.G1011C(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAGAGTGACCGCTGGTGGAG	0.607000													3	6					0.004672	0.00490037	0.115264	1	0
PID1	55022	broad.mit.edu	37	2	230020666	230020666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:230020666C>A	ENST00000392054.3	-	3	477	c.138G>T	c.(136-138)atG>atT	p.M46I	PID1_ENST00000409462.1_Intron|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000354069.6_Missense_Mutation_p.M48I|PID1_ENST00000392055.3_Missense_Mutation_p.M15I	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	48						cytoplasm		p.M46I(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TAGACTTCAGCATGGTCTGAA	0.438000													32	242					5.71845e-15	7.66928e-15	0.812448	1	0
PPP1R7	5510	broad.mit.edu	37	2	242092932	242092932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:242092932G>T	ENST00000234038.6	+	2	568	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G32W|PPP1R7_ENST00000401987.1_Intron	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	32						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.G32W(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGATGAAGAAGGGAAGAAACA	0.547000													18	134					6.94344e-10	8.39407e-10	0.539581	1	0
COL22A1	169044	broad.mit.edu	37	8	139628254	139628254	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:139628254G>C	ENST00000303045.6	-	55	4360	c.3914C>G	c.(3913-3915)cCa>cGa	p.P1305R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1285R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1305	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1305R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATCTTTTCCTGGTAACCCTTC	0.567000										HNSCC(7;0.00092)			19	85					0	0	0.592651	0	0
COG5	10466	broad.mit.edu	37	7	107013135	107013135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:107013135C>T	ENST00000393603.2	-	8	1104	c.833G>A	c.(832-834)aGt>aAt	p.S278N	COG5_ENST00000347053.3_Missense_Mutation_p.S278N|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.S278N	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	278					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.S278N(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCCACAACACTGGTAATAGT	0.398000													36	176					0	0	0.834066	0	0
LRRK2	120892	broad.mit.edu	37	12	40689416	40689416	+	Silent	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:40689416A>C	ENST00000298910.7	+	23	3124	c.3066A>C	c.(3064-3066)gcA>gcC	p.A1022A	LRRK2_ENST00000343742.2_Silent_p.A1022A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1022					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A1022A(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGAATGCACTCACGAGCT	0.348000													9	121					0	0	0.361761	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:63010527C>G	ENST00000439174.2	-	4	1227	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	GNA13_ENST00000541118.1_Missense_Mutation_p.E233Q	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	328					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000													15	162					0	0	0.539581	0	0
NOL6	65083	broad.mit.edu	37	9	33467207	33467207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:33467207C>A	ENST00000379471.2	-	14	1866	c.1779G>T	c.(1777-1779)caG>caT	p.Q593H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.Q541H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	593					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.Q593H(2)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGCTCCGTCCTGGAAACGCC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					0.248553	0.250989	0.248553	1	0
OR11H4	390442	broad.mit.edu	37	14	20711267	20711267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:20711267G>T	ENST00000315409.2	+	1	370	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCATTTTCTGGGTGCTTCCTC	0.453000													72	172					6.47592e-44	1.06894e-43	0.870114	1	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185390	32185390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:32185390C>A	ENST00000329621.4	-	1	180	c.149G>T	c.(148-150)gGg>gTg	p.G50V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						GCCGAAAGCCCCACAGCCGTT	0.562000													20	182					1.01871e-10	1.26419e-10	0.575678	1	0
KPNB1	3837	broad.mit.edu	37	17	45755523	45755523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:45755523C>G	ENST00000290158.4	+	18	2622	c.2215C>G	c.(2215-2217)Ctt>Gtt	p.L739V	KPNB1_ENST00000535458.2_Missense_Mutation_p.L594V|KPNB1_ENST00000540627.1_Missense_Mutation_p.L594V|KPNB1_ENST00000537679.1_Missense_Mutation_p.L523V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	739					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.L739V(2)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTGAATACTCTTCAGCAGGC	0.438000													25	269					0	0	0.717897	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097635	38097635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:38097635G>T	ENST00000261439.4	+	14	2677	c.2322G>T	c.(2320-2322)tgG>tgT	p.W774C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.W868C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	774						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTACAGTGTGGGAAAAGATGC	0.408000													36	236					6.57855e-14	8.59886e-14	0.847076	1	0
ROBO2	6092	broad.mit.edu	37	3	75986693	75986693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:75986693C>T	ENST00000487694.3	+	2	328	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P17S(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACATGGGCTCCGGGACTGTT	0.458000													8	82					0	0	0.361761	0	0
TBC1D16	125058	broad.mit.edu	37	17	77925310	77925310	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:77925310T>A	ENST00000310924.2	-	5	1143	c.1028A>T	c.(1027-1029)gAc>gTc	p.D343V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	343						intracellular	Rab GTPase activator activity	p.D343V(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGACAGCTTGTCCAGGCCGCC	0.612000													8	61					0	0	0.361761	0	0
ACER2	340485	broad.mit.edu	37	9	19424744	19424744	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:19424744G>T	ENST00000340967.2	+	3	296	c.270G>T	c.(268-270)caG>caT	p.Q90H	ACER2_ENST00000380376.1_Missense_Mutation_p.Q41H	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	90					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.Q90H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTGGGTCAGATGCTTGATG	0.433000													107	493					9.70916e-65	1.63942e-64	0.870114	1	0
DPEP2	64174	broad.mit.edu	37	16	68021439	68021439	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:68021439G>T	ENST00000412757.2	-	12	2096	c.1431C>A	c.(1429-1431)gcC>gcA	p.A477A	DPEP2_ENST00000393847.1_Silent_p.A477A|DPEP2_ENST00000572888.1_Silent_p.A477A			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	477					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.A477A(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGGGAAGGTGGCCACAACTG	0.547000													35	151					2.75727e-19	3.94443e-19	0.804634	1	0
DERL1	79139	broad.mit.edu	37	8	124033690	124033690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:124033690C>A	ENST00000259512.4	-	6	803	c.503G>T	c.(502-504)gGc>gTc	p.G168V	DERL1_ENST00000523036.1_Missense_Mutation_p.G68V|DERL1_ENST00000519018.1_Missense_Mutation_p.G68V|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.G168V|DERL1_ENST00000419562.2_Missense_Mutation_p.G68V	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	168					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	p.G168V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CACTTACGAGCCTCCGATGAT	0.353000													34	247					6.1244e-12	7.71166e-12	0.834066	1	0
MYH1	4619	broad.mit.edu	37	17	10408755	10408755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10408755G>T	ENST00000226207.5	-	20	2342	c.2248C>A	c.(2248-2250)Ctg>Atg	p.L750M	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	750	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGGACCCCAGGAGCTTCTCT	0.403000													17	189					1.01871e-10	1.26419e-10	0.575678	1	0
FASLG	356	broad.mit.edu	37	1	172628515	172628515	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:172628515G>T	ENST00000367721.2	+	1	358	c.174G>T	c.(172-174)ccG>ccT	p.P58P	FASLG_ENST00000340030.3_Silent_p.P58P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	58	Poly-Pro.|Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.P58P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cacctccgccgccgccgccac	0.622000													3	9					0.115264	0.118485	0.115264	1	0
ANGPT4	51378	broad.mit.edu	37	20	869027	869027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:869027G>A	ENST00000381922.3	-	3	623	c.521C>T	c.(520-522)aCc>aTc	p.T174I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T174I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	174					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T174I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTTGTTGGTGGACAGAAA	0.582000													77	450					0	0	0.870114	0	0
MYOCD	93649	broad.mit.edu	37	17	12647645	12647645	+	Missense_Mutation	SNP	G	G	C	rs140013261	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:12647645G>C	ENST00000425538.1	+	8	1063	c.863G>C	c.(862-864)cGg>cCg	p.R288P	MYOCD_ENST00000395988.1_Missense_Mutation_p.R192P|MYOCD_ENST00000343344.4_Missense_Mutation_p.R288P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	288					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R288P(4)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTACGCTCGGCTGCTCCAG	0.557000													6	31					0	0	0.248553	0	0
OR5M3	219482	broad.mit.edu	37	11	56237426	56237426	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:56237426A>T	ENST00000312240.2	-	1	588	c.548T>A	c.(547-549)aTc>aAc	p.I183N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCATTTTGATGAGAGGTGG	0.408000													60	308					0	0	0.870114	0	0
EPG5	57724	broad.mit.edu	37	18	43497731	43497731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:43497731G>C	ENST00000282041.5	-	17	3186	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1051					autophagy			p.S1051*(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAAATGTCTTGACTGGACCAG	0.428000													10	266					0	0	0.411799	0	0
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:114284743G>T	ENST00000393500.3	+	14	1588	c.768G>T	c.(766-768)tcG>tcT	p.S256S	FOXP2_ENST00000350908.4_Silent_p.S331S|FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000403559.4_Silent_p.S348S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000393494.2_Silent_p.S331S|FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000393491.3_Silent_p.S239S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468000													11	102					1.5842e-08	1.87555e-08	0.435327	1	0
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692000													11	50					0	0	0.411799	0	0
GRID2	2895	broad.mit.edu	37	4	94159624	94159624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:94159624G>T	ENST00000282020.4	+	8	1486	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	GRID2_ENST00000510992.1_Missense_Mutation_p.G315C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	410					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G410C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGAGCTTGGCAGAGGTGT	0.408000													27	221					6.38683e-12	8.02248e-12	0.729181	1	0
KMT2D	8085	broad.mit.edu	37	12	49436374	49436374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:49436374C>G	ENST00000301067.7	-	27	5836	c.5837G>C	c.(5836-5838)gGc>gCc	p.G1946A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1946A(2)|p.G1676A(2)									CTGGCAGAGGCCTGGGTAGGA	0.557000													23	51					0	0	0.693898	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184741	32184741	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:32184741G>T	ENST00000375023.3	-	11	1980	c.1842C>A	c.(1840-1842)ctC>ctA	p.L614L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	614	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L614L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGAGGGGCAGAGGCAAAAGA	0.527000													20	159					3.08376e-08	3.60122e-08	0.654019	1	0
HPS4	89781	broad.mit.edu	37	22	26860726	26860726	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:26860726T>A	ENST00000398145.2	-	11	1486	c.870A>T	c.(868-870)acA>acT	p.T290T	HPS4_ENST00000402105.3_Silent_p.T285T|HPS4_ENST00000398141.1_Silent_p.T303T|HPS4_ENST00000336873.5_Silent_p.T290T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	290					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.T290T(2)|p.T303T(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGGGCAGATGTGCTCCCAC	0.572000									Hermansky-Pudlak syndrome				8	110					0	0	0.335167	0	0
TBC1D8	11138	broad.mit.edu	37	2	101648757	101648757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:101648757G>T	ENST00000409318.1	-	11	2039	c.1909C>A	c.(1909-1911)Ccc>Acc	p.P637T	TBC1D8_ENST00000376840.4_Missense_Mutation_p.P622T	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	622	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.P637T(2)|p.P622T(2)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AAGTAATCGGGCAGCATCCGC	0.562000													10	84					4.68919e-08	5.43904e-08	0.361761	1	0
WDR89	112840	broad.mit.edu	37	14	64065848	64065848	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:64065848T>C	ENST00000394942.2	-	2	901	c.813A>G	c.(811-813)gaA>gaG	p.E271E	WDR89_ENST00000267522.3_Silent_p.E271E|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	271								p.E271E(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CCAAAGCATCTTCTTTCATGT	0.373000													111	429					0	0	0.870114	0	0
PCDH10	57575	broad.mit.edu	37	4	134073054	134073054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:134073054C>A	ENST00000264360.4	+	1	2585	c.1759C>A	c.(1759-1761)Cgt>Agt	p.R587S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R587S(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTCCAGCGCGTGAGGTGCT	0.662000													3	18					0.00116845	0.00124328	0.217242	1	0
POLE	5426	broad.mit.edu	37	12	133256133	133256133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:133256133C>G	ENST00000320574.5	-	6	571	c.528G>C	c.(526-528)aaG>aaC	p.K176N	POLE_ENST00000535270.1_Missense_Mutation_p.K149N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	176					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.K176N(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCCCTGTTCTTCTTCACGG	0.507000								DNA polymerases (catalytic subunits)					11	121					0	0	0.387290	0	0
EIF2D	1939	broad.mit.edu	37	1	206785640	206785640	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:206785640C>A	ENST00000271764.2	-	1	264	c.56_splice	c.e1+1	p.R19_splice	EIF2D_ENST00000367114.3_Splice_Site_p.R19_splice	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	19					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.R19M(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCCCTCACCTGTCCGACCC	0.617000													39	92					7.90463e-13	1.00268e-12	0.870114	1	0
FMN2	56776	broad.mit.edu	37	1	240370500	240370500	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:240370500C>A	ENST00000319653.9	+	5	2618	c.2388C>A	c.(2386-2388)gtC>gtA	p.V796V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	796	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.V939V(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAATATCAGTCCAGCTCGACA	0.577000													54	118					3.56336e-21	5.22829e-21	0.870114	1	0
NELL2	4753	broad.mit.edu	37	12	45000952	45000952	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:45000952C>A	ENST00000429094.2	-	15	2167	c.1663_splice	c.e15+1	p.D555_splice	NELL2_ENST00000549027.1_Splice_Site_p.D554_splice|NELL2_ENST00000452445.2_Splice_Site_p.D555_splice|NELL2_ENST00000437801.2_Splice_Site_p.D605_splice|NELL2_ENST00000551601.1_Splice_Site_p.D554_splice|NELL2_ENST00000395487.2_Splice_Site_p.D554_splice|NELL2_ENST00000333837.4_Splice_Site_p.D578_splice	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	555	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D555Y(1)|p.D605Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATATTCTTACCCGTTTCACAG	0.408000													37	122					4.17593e-13	5.34977e-13	0.834066	1	0
CDH10	1008	broad.mit.edu	37	5	24509715	24509715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:24509715C>A	ENST00000264463.4	-	7	1723	c.1216G>T	c.(1216-1218)Gta>Tta	p.V406L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V406L(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCCATTACAGTACCAATG	0.438000										HNSCC(23;0.051)			38	162					5.13769e-22	7.6916e-22	0.870114	1	0
PCNXL2	80003	broad.mit.edu	37	1	233394394	233394394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:233394394C>A	ENST00000258229.8	-	5	1448	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	405						integral to membrane		p.S405I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGACTTTACACTGGTCTTCTC	0.532000													12	90					7.03913e-09	8.37217e-09	0.411799	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69034445	69034445	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:69034445A>G	ENST00000295381.3	+	5	923	c.504A>G	c.(502-504)gaA>gaG	p.E168E	ARHGAP25_ENST00000409202.3_Silent_p.E169E|ARHGAP25_ENST00000497079.1_Silent_p.E162E|ARHGAP25_ENST00000409220.1_Silent_p.E162E|ARHGAP25_ENST00000544262.1_Silent_p.E143E|ARHGAP25_ENST00000409030.3_Silent_p.E161E|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.E129E	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	168	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E162E(2)|p.E169E(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGCCTATGAACAGAAATTCG	0.542000													16	143					0	0	0.539581	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325952	15325952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:15325952T>A	ENST00000378116.4	-	2	256	c.250A>T	c.(250-252)Agt>Tgt	p.S84C		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	84						integral to membrane		p.S84C(4)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCAACTGACTGCCCAGCTTA	0.537000													38	231					0	0	0.812448	0	0
DDX11	1663	broad.mit.edu	37	12	31253967	31253967	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:31253967T>G	ENST00000407793.2	+	20	2206	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	DDX11_ENST00000350437.4_Missense_Mutation_p.V652G|DDX11_ENST00000545668.1_Missense_Mutation_p.V652G|DDX11_ENST00000542838.1_Missense_Mutation_p.V652G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.V626G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.V652G(4)|p.V652A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTCACGTGATCCCTCCA	0.577000										Multiple Myeloma(12;0.14)			26	140					0	0	0.706142	0	0
GYS2	2998	broad.mit.edu	37	12	21713354	21713354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:21713354T>A	ENST00000261195.2	-	8	1389	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	379					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.T379S(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTTCAGGGTTTCCACGTTG	0.378000													30	251					0	0	0.804634	0	0
GPR61	83873	broad.mit.edu	37	1	110086511	110086511	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:110086511C>A	ENST00000527748.1	+	2	1550	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	289						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L289L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGTGGTTCTCCTGGCTGTGG	0.617000													5	32					1.23904e-05	1.38118e-05	0.184627	1	0
TUBA8	51807	broad.mit.edu	37	22	18613793	18613793	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:18613793G>A	ENST00000330423.3	+	5	1313	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E414K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AGAGGGGATGGAAGAAGGAGA	0.542000													12	67					0	0	0.457914	0	0
GC	2638	broad.mit.edu	37	4	72634043	72634043	+	Missense_Mutation	SNP	G	G	T	rs34941807		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:72634043G>T	ENST00000273951.8	-	3	579	c.236C>A	c.(235-237)gCt>gAt	p.A79D	GC_ENST00000504199.1_Missense_Mutation_p.A98D|GC_ENST00000513476.1_Missense_Mutation_p.A79D|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	79	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.A98D(2)|p.A79D(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTCAGGGTCAGCCCCTTCCGC	0.532000													10	55					1.11149e-13	1.43824e-13	0.361761	1	0
MYH13	8735	broad.mit.edu	37	17	10222113	10222113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10222113C>G	ENST00000418404.3	-	26	3895	c.3732G>C	c.(3730-3732)aaG>aaC	p.K1244N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1244N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1244N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1244N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTACCTTTGACTTGGAGAGAG	0.562000													32	146					0	0	0.788014	0	0
PAX4	5078	broad.mit.edu	37	7	127253901	127253901	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:127253901A>T	ENST00000341640.2	-	4	652	c.447T>A	c.(445-447)agT>agA	p.S149R	PAX4_ENST00000338516.3_Missense_Mutation_p.S157R|PAX4_ENST00000378740.2_Missense_Mutation_p.S149R|PAX4_ENST00000463946.1_Missense_Mutation_p.S147R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	157					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S149R(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCAGAGCCACTATGGGGAG	0.572000													14	94					0	0	0.479597	0	0
LAMA1	284217	broad.mit.edu	37	18	6943380	6943380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:6943380C>A	ENST00000389658.3	-	62	8959	c.8866G>T	c.(8866-8868)Ggt>Tgt	p.G2956C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2956	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2956C(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCAGCACCATTGTTGACA	0.408000													14	139					2.32078e-09	2.78602e-09	0.479597	1	0
HIST1H3J	8356	broad.mit.edu	37	6	27858239	27858239	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:27858239C>G	ENST00000359303.2	-	1	331	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111S(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GTGAATAGCACAGAGGTTGGT	0.547000													12	136					0	0	0.387290	0	0
MARK1	4139	broad.mit.edu	37	1	220835506	220835506	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:220835506T>G	ENST00000402574.1	+	17	2938	c.1936T>G	c.(1936-1938)Taa>Gaa	p.*646E	MARK1_ENST00000366917.4_Nonstop_Mutation_p.*796E|MARK1_ENST00000366918.4_Nonstop_Mutation_p.*759E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	0					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.*796E(3)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCTTAAGCTGTAAAGAAGTCC	0.393000													10	85					0	0	0.361761	0	0
BRINP2	57795	broad.mit.edu	37	1	177250580	177250580	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:177250580G>T	ENST00000361539.4	+	8	2580	c.2268G>T	c.(2266-2268)gtG>gtT	p.V756V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		756						extracellular region		p.V756V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACAATGAGGTGGGCAGGATCC	0.552000													18	215					2.32416e-17	3.22626e-17	0.624587	1	0
PAX2	5076	broad.mit.edu	37	10	102584414	102584414	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:102584414T>A	ENST00000370296.2	+	9	1548	c.998T>A	c.(997-999)aTg>aAg	p.M333K	PAX2_ENST00000556085.1_Missense_Mutation_p.M309K|PAX2_ENST00000428433.1_Missense_Mutation_p.M333K|PAX2_ENST00000355243.3_Missense_Mutation_p.M310K|PAX2_ENST00000361791.3_Missense_Mutation_p.M310K			Q02962	PAX2_HUMAN	paired box 2	333					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.M333K(2)|p.M310K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTCGTGACATGGCGAGCACC	0.612000													38	199					0	0	0.870114	0	0
FBXO40	51725	broad.mit.edu	37	3	121341414	121341414	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:121341414A>T	ENST00000338040.4	+	3	1552	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	380					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.T380S(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGCAGTGGATACTTCAGATTT	0.483000													86	339					0	0	0.870114	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305908	9305908	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrY:9305908G>T	ENST00000451548.1	+	3	610		c.e3-1		TSPY3_ENST00000440483.1_Intron|AC006156.1_ENST00000423213.1_Intron|AC006156.1_ENST00000450145.1_Intron|TSPY1_ENST00000423647.2_Splice_Site	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1						cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	p.?(2)		lung(4)	4						TGTCCTGACAGGTGGGAGAAG	0.458000													45	526					9.57592e-29	1.50354e-28	0.870114	1	0
RASSF8	11228	broad.mit.edu	37	12	26217434	26217434	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:26217434G>C	ENST00000405154.2	+	3	306	c.107G>C	c.(106-108)cGa>cCa	p.R36P	RASSF8_ENST00000381352.3_Missense_Mutation_p.R36P|RASSF8_ENST00000282884.9_Missense_Mutation_p.R36P|RASSF8_ENST00000542865.1_Missense_Mutation_p.R36P|RASSF8_ENST00000541490.1_Missense_Mutation_p.R36P	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	36	Ras-associating.				signal transduction			p.R36P(4)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TACATAGGTCGAACTGGAAGG	0.338000													74	197					0	0	0.870114	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667826	60667826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:60667826C>A	ENST00000400324.4	-	4	651	c.431G>T	c.(430-432)cGg>cTg	p.R144L	DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R144L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R144L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R133L|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R74L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCCTTTTCCCGCAATGGTGC	0.333000													14	84					0.000132079	0.000143503	0.575678	1	0
TAS2R16	50833	broad.mit.edu	37	7	122634999	122634999	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:122634999G>A	ENST00000249284.2	-	1	755	c.690C>T	c.(688-690)gcC>gcT	p.A230A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A230A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAATAAGACGGCAAGGGACC	0.433000													43	254					0	0	0.859065	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821650	129821650	+	RNA	SNP	G	G	A	rs56088005	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:129821650G>A	ENST00000500074.2	-	0	495																											GGTTGCGGACGGTAAAGGCCA	0.667000													4	82					0	0	0.217242	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:57896476G>T	ENST00000381227.1	+	25	3759	c.3346G>T	c.(3346-3348)Gtt>Ttt	p.V1116F	POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109F|POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116F|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(2)|p.V1116I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000													36	218					4.32679e-17	5.99005e-17	0.827153	1	0
CLRN2	645104	broad.mit.edu	37	4	17524543	17524543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:17524543C>A	ENST00000511148.2	+	2	412	c.310C>A	c.(310-312)Ctc>Atc	p.L104I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	104						integral to membrane		p.L121I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATTCTGCTGCTCCTCTTCCT	0.557000													38	247					6.2361e-21	9.0723e-21	0.834066	1	0
SLC5A1	6523	broad.mit.edu	37	22	32482262	32482262	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:32482262T>A	ENST00000266088.4	+	10	1327	c.1077T>A	c.(1075-1077)gtT>gtA	p.V359V	SLC5A1_ENST00000543737.1_Silent_p.V232V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	359					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.V359V(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTACCAAGGTTGGCTGTACCA	0.493000													97	478					0	0	0.870114	0	0
MTMR6	9107	broad.mit.edu	37	13	25832811	25832811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:25832811C>A	ENST00000381801.5	-	7	1507	c.746G>T	c.(745-747)aGa>aTa	p.R249I	MTMR6_ENST00000540661.1_Missense_Mutation_p.R249I|MTMR6_ENST00000482345.1_5'UTR	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	249	Myotubularin phosphatase.|Substrate binding (By similarity).					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R249I(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCAGCTGCTCTGTTGGCCAT	0.299000													7	43					0.00829132	0.00867892	0.361761	1	0
GABBR2	9568	broad.mit.edu	37	9	101216375	101216375	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:101216375G>T	ENST00000259455.2	-	7	1583	c.1124C>A	c.(1123-1125)aCa>aAa	p.T375K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	375					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T375K(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCATGCAGTGTCTCCATGGC	0.592000													34	175					3.62531e-18	5.08728e-18	0.796494	1	0
CDH20	28316	broad.mit.edu	37	18	59166451	59166451	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:59166451C>A	ENST00000262717.4	+	3	677	c.279C>A	c.(277-279)tcC>tcA	p.S93S	CDH20_ENST00000536675.2_Silent_p.S93S|CDH20_ENST00000538374.1_Silent_p.S93S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	93	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S93S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGACGGATCCATCAAATACA	0.483000													6	31					0.217242	0.221106	0.217242	1	0
MUC16	94025	broad.mit.edu	37	19	9024497	9024497	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9024497C>A	ENST00000397910.4	-	17	37240		c.e17-1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.?(2)		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						TGGGTGAAACCTGCATAGAGA	0.542000													38	258					1.7489e-18	2.46089e-18	0.859065	1	0
FAM107A	11170	broad.mit.edu	37	3	58555486	58555486	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:58555486C>A	ENST00000394481.1	-	3	660	c.102G>T	c.(100-102)ctG>ctT	p.L34L	FAM107A_ENST00000474531.1_Silent_p.L65L|FAM107A_ENST00000360997.2_Silent_p.L34L|FAM107A_ENST00000464064.1_Silent_p.L34L|FAM107A_ENST00000447756.2_Silent_p.L62L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	34					regulation of cell growth	nucleus	protein binding	p.L34L(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CGGGGTTCAGCAGCTTCTTGG	0.622000													14	45					1.3612e-06	1.5441e-06	0.479597	1	0
OR2L3	391192	broad.mit.edu	37	1	248224602	248224602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248224602G>T	ENST00000359959.3	+	1	619	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207L(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CATCTTTCTCGTGTTTCCCTT	0.493000													36	544					2.66277e-13	3.41976e-13	0.827153	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851711	14851711	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:14851711A>T	ENST00000358984.4	+	36	3591	c.3411A>T	c.(3409-3411)gtA>gtT	p.V1137V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1222								p.V1137V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAACAGTAACAAAAAGGG	0.353000													11	81					0	0	0.435327	0	0
OVCH1	341350	broad.mit.edu	37	12	29598303	29598303	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:29598303G>T	ENST00000318184.5	-	23	2788	c.2789C>A	c.(2788-2790)aCt>aAt	p.T930N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	930	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.T930N(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTCATGAAAGTCATTGAGTA	0.378000													38	110					4.40578e-31	7.02469e-31	0.819951	1	0
TMEM168	64418	broad.mit.edu	37	7	112424746	112424746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:112424746C>A	ENST00000312814.5	-	2	695	c.135G>T	c.(133-135)ttG>ttT	p.L45F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L45F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	45						integral to membrane|transport vesicle		p.L45F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATATAGCAACCAATAAATTGA	0.348000													19	132					3.5997e-14	4.74129e-14	0.624587	1	0
ZNF99	7652	broad.mit.edu	37	19	22951200	22951200	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:22951200T>A	ENST00000397104.3	-	3	195	c.196A>T	c.(196-198)Atc>Ttc	p.I66F	ZNF99_ENST00000596209.1_Missense_Mutation_p.I45F					zinc finger protein 99									p.I66F(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAGACAGCGATACCTGtttta	0.338000													9	54					0	0	0.307466	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896946	48896946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:48896946C>T	ENST00000394754.1	+	9	3290	c.3176C>T	c.(3175-3177)aCa>aTa	p.T1059I	GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T355I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1012I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1059I|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T321I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1012					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T4I(4)|p.T1059I(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCGGTGATACATCTTCCAAT	0.378000													27	177					0	0	0.706142	0	0
LRRN2	10446	broad.mit.edu	37	1	204588984	204588984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:204588984G>T	ENST00000367175.1	-	1	2349	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	LRRN2_ENST00000367176.3_Missense_Mutation_p.S46Y|LRRN2_ENST00000367177.3_Missense_Mutation_p.S46Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	46	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.S46Y(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCGCGGTAGGACGAGCGGGG	0.667000													19	98					1.10513e-12	1.39839e-12	0.624587	1	0
GRK5	2869	broad.mit.edu	37	10	121212201	121212201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:121212201A>T	ENST00000392870.2	+	14	1752	c.1423A>T	c.(1423-1425)Aag>Tag	p.K475*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.K370*|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	475	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.K475*(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGTACTGTAAGGACGTGCT	0.622000													5	22					0	0	0.248553	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143691	142143691	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:142143691G>T	ENST00000390373.2	-	0	304																											AGTCTGAGAGGGAGCAGCTGA	0.527000													44	300					8.78508e-14	1.1425e-13	0.870114	1	0
EPHA4	2043	broad.mit.edu	37	2	222428583	222428583	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:222428583C>A	ENST00000281821.2	-	3	732	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	EPHA4_ENST00000392071.4_Missense_Mutation_p.G180C|EPHA4_ENST00000409854.1_Missense_Mutation_p.G231C|EPHA4_ENST00000409938.1_Missense_Mutation_p.G231C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G231C(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACACAGGAGCCTCGAACTTCC	0.512000													35	189					4.62619e-21	6.74926e-21	0.796494	1	0
KRT16P6	353194	broad.mit.edu	37	17	16723389	16723389	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:16723389G>T	ENST00000417510.1	-	0	730																											CCACACTCATGCGCAGGTTCA	0.562000													10	165					0.000442599	0.000474872	0.335167	1	0
AHI1	54806	broad.mit.edu	37	6	135611635	135611635	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:135611635C>T	ENST00000367800.4	-	26	3730	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	AHI1_ENST00000457866.2_Missense_Mutation_p.E1172K|AHI1_ENST00000417892.2_3'UTR	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1172						adherens junction|cilium|microtubule basal body		p.E1172K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGGTCCTCATGGCTCTGT	0.428000													40	680					0	0	0.870114	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090292	238090292	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:238090292G>T	ENST00000450451.1	+	0	1798					NR_027247.2																						ACTCCTACGTGGGCGACAAGG	0.602000													11	57					2.80697e-09	3.36184e-09	0.387290	1	0
CTSC	1075	broad.mit.edu	37	11	88027474	88027474	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:88027474C>T	ENST00000227266.5	-	7	1206	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	364					immune response	lysosome	cysteine-type endopeptidase activity	p.L364L(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGATGGACCAACTCAAGCT	0.458000													63	348					0	0	0.870114	0	0
CHRM3	1131	broad.mit.edu	37	1	240072343	240072343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:240072343G>C	ENST00000255380.4	+	5	2371	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGGGCTACTGGCTGTGCTAC	0.488000													51	142					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75055641	75055641	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:75055641C>G	ENST00000326665.5	-	12	2068	c.1850G>C	c.(1849-1851)aGg>aCg	p.R617T	C1orf173_ENST00000420661.2_Missense_Mutation_p.R420T|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.							p.R617T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAGATGACCTTCTGGCACT	0.438000													22	120					0	0	0.681144	0	0
GPR12	2835	broad.mit.edu	37	13	27333529	27333529	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:27333529G>A	ENST00000405846.3	-	2	657	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	GPR12_ENST00000381436.2_Silent_p.L146L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	146						integral to plasma membrane		p.L146L(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGTACGTCAGAGCGTAGTAC	0.577000													20	109					0	0	0.667858	0	0
DNAH9	1770	broad.mit.edu	37	17	11514989	11514989	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:11514989T>C	ENST00000262442.3	+	4	864	c.796T>C	c.(796-798)Tat>Cat	p.Y266H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y266H|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.Y266H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	266	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y266H(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAATACATCTATAATCAACT	0.448000													33	181					0	0	0.769981	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558265	11558265	+	Silent	SNP	C	C	T	rs149732361		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:11558265C>T	ENST00000252455.2	+	11	1197	c.861C>T	c.(859-861)acC>acT	p.T287T	PRKCSH_ENST00000587327.1_Silent_p.T287T|PRKCSH_ENST00000589838.1_Silent_p.T287T|PRKCSH_ENST00000412601.1_Silent_p.T287T|PRKCSH_ENST00000591462.1_Silent_p.T287T|PRKCSH_ENST00000592741.1_Silent_p.T287T	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	287	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.T287T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CACTGCCCACCGACCTTCCAG	0.677000													4	24					0	0	0.278610	0	0
APMAP	57136	broad.mit.edu	37	20	24964571	24964571	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:24964571C>A	ENST00000217456.2	-	2	470	c.180G>T	c.(178-180)ctG>ctT	p.L60L	APMAP_ENST00000447138.1_Silent_p.L60L	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein									p.L60L(2)									GAGATTCCAGCAGCATCATGG	0.502000													21	101					1.1804e-14	1.57488e-14	0.667858	1	0
CD200R1	131450	broad.mit.edu	37	3	112648181	112648181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:112648181C>A	ENST00000471858.1	-	3	539	c.307G>T	c.(307-309)Gag>Tag	p.E103*	CD200R1_ENST00000490004.1_Nonsense_Mutation_p.E103*|CD200R1_ENST00000440122.2_Nonsense_Mutation_p.E126*|CD200R1_ENST00000308611.3_Nonsense_Mutation_p.E126*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.E81*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	103	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.E126*(4)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTATTCTCTCATCAGTACAG	0.443000													115	471					1.58894e-48	2.64823e-48	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745860	138745860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:138745860G>T	ENST00000242351.5	-	9	2334	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S795Y|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S673Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	673	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.S673Y(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAGTTTTGGAAGCTATGTT	0.403000													73	379					9.04243e-43	1.48781e-42	0.870114	1	0
RYR3	6263	broad.mit.edu	37	15	34115267	34115267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:34115267C>A	ENST00000389232.4	+	81	11136	c.11066C>A	c.(11065-11067)tCt>tAt	p.S3689Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3684Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3689					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3688Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTATGCAGTCTTGCAGGTAA	0.433000													8	59					2.17888e-05	2.3977e-05	0.335167	1	0
EMR1	2015	broad.mit.edu	37	19	6897298	6897298	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:6897298G>A	ENST00000312053.4	+	4	414	c.377G>A	c.(376-378)gGc>gAc	p.G126D	EMR1_ENST00000450315.3_Missense_Mutation_p.G126D|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.G126D|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	126	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G126D(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGAAAGCCGGGCAATTTCTCC	0.498000													7	155					0	0	0.335167	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468562	26468562	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:26468562G>A	ENST00000312541.5	+	8	1617	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E396K|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	457	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane		p.E457K(2)|p.E443K(2)		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						CCTGGACTATGAAGCTGGAGA	0.542000													41	230					0	0	0.847076	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594075	7594075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:7594075G>T	ENST00000342415.5	+	2	324	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	89					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	p.E89*(2)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TACCAAAGAAGAAGAGGTACC	0.333000													42	258					2.42038e-35	3.94461e-35	0.834066	1	0
IL7R	3575	broad.mit.edu	37	5	35876456	35876456	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:35876456C>G	ENST00000303115.3	+	8	1377	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	416					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P416P(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCACGCTGCCCCCTCCATTTT	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						12	69					0	0	0.557998	0	0
ITGAD	3681	broad.mit.edu	37	16	31424230	31424230	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31424230C>A	ENST00000389202.2	+	15	1828	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	593					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L593L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCAGGACCTCACCCAGGATG	0.652000													21	109					1.64113e-05	1.8176e-05	0.592651	1	0
N6AMT1	29104	broad.mit.edu	37	21	30252230	30252230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:30252230C>A	ENST00000303775.5	-	4	383	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	120					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.V120L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGATTAAACACCAGAAGATCA	0.289000													28	197					1.61004e-24	2.47513e-24	0.870114	1	0
WWTR1	25937	broad.mit.edu	37	3	149374727	149374727	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:149374727C>G	ENST00000465804.1	-	3	623	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	WWTR1_ENST00000467467.1_Missense_Mutation_p.E123Q|WWTR1_ENST00000360632.3_Missense_Mutation_p.E123Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	123					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.E123Q(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGTGGCAGCTCGTCGGTCACG	0.687000			T	CAMTA1	epitheliod hemangioendothelioma								5	28					0	0	0.307466	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973836	69973836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:69973836G>T	ENST00000305231.7	+	5	1152	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	369					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R369I(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAAAGACCAGAGCTTTTATA	0.418000													37	246					7.04047e-22	1.05097e-21	0.812448	1	0
PRR23C	389152	broad.mit.edu	37	3	138762887	138762887	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:138762887G>T	ENST00000413199.1	-	1	847	c.576C>A	c.(574-576)ggC>ggA	p.G192G	PRR23C_ENST00000502927.2_Silent_p.G192G|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	192	Pro-rich.							p.G192G(2)		breast(2)|lung(7)|skin(2)	11						CTCGGATGGGGCCCTCCCGGT	0.647000													9	47					1.5842e-08	1.87555e-08	0.435327	1	0
RYR3	6263	broad.mit.edu	37	15	34153353	34153353	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:34153353A>T	ENST00000389232.4	+	102	14509	c.14439A>T	c.(14437-14439)ttA>ttT	p.L4813F	RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.L4808F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4813					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L4812F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACATACATTACAAGAGCACA	0.373000													5	49					0	0	0.248553	0	0
COPS7B	64708	broad.mit.edu	37	2	232672272	232672272	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:232672272C>T	ENST00000350033.3	+	7	853	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	COPS7B_ENST00000410017.1_Silent_p.N260N|COPS7B_ENST00000409091.1_Missense_Mutation_p.R131W|COPS7B_ENST00000409295.1_Missense_Mutation_p.R204W|COPS7B_ENST00000373608.3_Silent_p.N255N|COPS7B_ENST00000410024.1_Missense_Mutation_p.R238W	NM_022730.1	NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	238					cullin deneddylation	cytoplasm|signalosome		p.R238W(1)		large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCTGGCTGAACGGGAGTGTCC	0.587000													4	62					0	0	0.150653	0	0
CDH6	1004	broad.mit.edu	37	5	31305452	31305452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:31305452C>A	ENST00000265071.2	+	7	1436	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q336K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q391K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACATCTTACAAATAAGAGA	0.468000													51	228					2.0833e-19	2.98858e-19	0.870114	1	0
COBL	23242	broad.mit.edu	37	7	51096323	51096323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:51096323C>T	ENST00000395542.2	-	12	2900	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	COBL_ENST00000265136.7_Missense_Mutation_p.E824K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	824								p.E824K(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCGGCCCTCATGGTGGGCA	0.627000													6	36					0	0	0.307466	0	0
ANKH	56172	broad.mit.edu	37	5	14746065	14746065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:14746065C>A	ENST00000284268.6	-	7	1159	c.829G>T	c.(829-831)Gcg>Tcg	p.A277S	ANKH_ENST00000535119.1_Missense_Mutation_p.A79S|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	277					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.A277S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCAAAATCGCCACTGCCTGC	0.567000													27	88					5.45727e-16	7.51469e-16	0.729181	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992633	43992633	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:43992633C>T	ENST00000282406.4	+	30	4488	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1460						cytoplasm|cytoskeleton|integral to membrane	binding	p.P1460S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCTCTGCTCCAGCACTGCT	0.502000													17	69					0	0	0.557998	0	0
OR8B8	26493	broad.mit.edu	37	11	124310713	124310713	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:124310713T>C	ENST00000328064.2	-	1	341	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGATGCTGTTCTTCTTTAA	0.423000													56	370					0	0	0.870114	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:15134401G>A	ENST00000266395.2	+	4	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(2)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000													66	192					0	0	0.870114	0	0
CASP4	837	broad.mit.edu	37	11	104825538	104825538	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:104825538A>G	ENST00000444739.2	-	2	1108	c.198T>C	c.(196-198)cgT>cgC	p.R66R	CASP4_ENST00000393150.3_Silent_p.R10R|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	66	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R66R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTCCTGCCATACGTTGCTTCT	0.358000													33	222					0	0	0.864702	0	0
FLG	2312	broad.mit.edu	37	1	152286758	152286758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:152286758C>A	ENST00000368799.1	-	3	639	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	202					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E202*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGTCTTTCACTTAGCCTC	0.328000									Ichthyosis				6	107					5.9392e-07	6.79708e-07	0.217242	1	0
FAM135B	51059	broad.mit.edu	37	8	139380193	139380193	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:139380193C>T	ENST00000395297.1	-	2	204	c.34G>A	c.(34-36)Gta>Ata	p.V12I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	12								p.V12I(2)|p.V12L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTAGCTCTACCGAAAACTCA	0.368000										HNSCC(54;0.14)			30	305					0	0	0.804634	0	0
WDR6	11180	broad.mit.edu	37	3	49050698	49050698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:49050698C>G	ENST00000395474.3	+	2	2101	c.1821C>G	c.(1819-1821)tgC>tgG	p.C607W	WDR6_ENST00000448293.1_Missense_Mutation_p.C526W|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	577					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.C577W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGTCACATGCCATGGTGGCT	0.577000													8	31					0	0	0.307466	0	0
PDE10A	10846	broad.mit.edu	37	6	165827162	165827162	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:165827162A>T	ENST00000366882.1	-	14	1229	c.1075T>A	c.(1075-1077)Tac>Aac	p.Y359N	PDE10A_ENST00000354448.4_Missense_Mutation_p.Y359N|PDE10A_ENST00000539869.2_Missense_Mutation_p.Y369N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	359	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Y359N(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAGCCTGTGTACAAGTCTACT	0.483000													13	87					0	0	0.435327	0	0
TOMM70A	9868	broad.mit.edu	37	3	100091564	100091564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:100091564G>T	ENST00000284320.5	-	9	1786	c.1338C>A	c.(1336-1338)taC>taA	p.Y446*		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	446					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.Y446*(9)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ATGCCTGGCGGTACTATAAAA	0.353000													6	58					0.000274275	0.000295506	0.307466	1	0
STOX1	219736	broad.mit.edu	37	10	70645915	70645915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:70645915G>T	ENST00000298596.6	+	3	2446	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	STOX1_ENST00000399169.4_Missense_Mutation_p.R788M|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R678M|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	788						cytoplasm|nucleolus	DNA binding	p.R788M(2)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACAATGGAGAGGGTTGAGTCT	0.458000													11	44					6.40141e-05	6.98459e-05	0.387290	1	0
MATN1	4146	broad.mit.edu	37	1	31194492	31194492	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:31194492G>T	ENST00000373765.4	-	2	236	c.201C>A	c.(199-201)gtC>gtA	p.V67V	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	67	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.V67V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACTCGATGACCTGGGACA	0.597000													5	35					0.00307968	0.00326345	0.278610	1	0
IL9R	3581	broad.mit.edu	37	X	155234093	155234093	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:155234093G>T	ENST00000424344.3	+	6	746	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	IL9R_ENST00000244174.5_Missense_Mutation_p.D148Y|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000369423.2_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor	148					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTTAAGCTGGACCCGCCCTC	0.542000													16	78					4.30721e-22	6.46709e-22	0.592651	1	0
RALGPS1	9649	broad.mit.edu	37	9	129957388	129957388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:129957388G>T	ENST00000259351.5	+	12	1196	c.929G>T	c.(928-930)gGt>gTt	p.G310V	RALGPS1_ENST00000373434.1_Missense_Mutation_p.G310V|RALGPS1_ENST00000424082.2_Missense_Mutation_p.G310V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	310					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G310V(4)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTGGCTCCGGTTCTGCGAGG	0.622000													13	86					1.3612e-06	1.5441e-06	0.479597	1	0
PARD3B	117583	broad.mit.edu	37	2	205978257	205978257	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:205978257A>T	ENST00000406610.2	+	6	843	c.636A>T	c.(634-636)ccA>ccT	p.P212P	PARD3B_ENST00000462231.1_Silent_p.P212P|PARD3B_ENST00000349953.3_Silent_p.P212P|PARD3B_ENST00000358768.2_Silent_p.P212P|PARD3B_ENST00000351153.1_Silent_p.P212P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	212	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.P212P(4)|p.P213P(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGAGGCCCATTGGGAATAC	0.433000													14	63					0	0	0.575678	0	0
RGS3	5998	broad.mit.edu	37	9	116346655	116346655	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:116346655G>A	ENST00000374140.2	+	21	3172	c.2963G>A	c.(2962-2964)cGc>cAc	p.R988H	RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.R309H|RGS3_ENST00000374134.3_Missense_Mutation_p.R309H|RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.R988H|RGS3_ENST00000343817.5_Missense_Mutation_p.R707H	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	988					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.R884H(1)|p.R988H(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCTGGGCCGCAATGGTGGC	0.597000													3	49					0	0	0.150653	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758166	25758166	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:25758166C>G	ENST00000586223.1	+	0	2600					NR_033892.1																						ctgcactgagccacaatatgg	0.592000													3	13					0	0	0.115264	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497613	1497613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:1497613C>A	ENST00000421627.2	+	2	888	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	331					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.Q274K(2)|p.Q296K(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACGCGCTGCAGAGCCCCTT	0.667000													23	115					4.59853e-10	5.58548e-10	0.693898	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976742	47976742	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:47976742G>A	ENST00000543600.1	-	2	523	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	PTCHD4_ENST00000339488.4_Missense_Mutation_p.L179F			Q6ZW05	CF138_HUMAN	patched domain containing 4	179						integral to membrane	hedgehog receptor activity	p.L179F(3)									TAGGTCTGGAGGTAGTAGGTG	0.502000													14	59					0	0	0.575678	0	0
CSMD3	114788	broad.mit.edu	37	8	113988108	113988108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:113988108G>T	ENST00000297405.5	-	7	1544	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q434K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q394K|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	434						integral to membrane|plasma membrane		p.Q434K(2)|p.Q394K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTCTATCTGTTCAGCATGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	117					9.86323e-18	1.37658e-17	0.667858	1	0
CHD8	57680	broad.mit.edu	37	14	21899280	21899280	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:21899280C>A	ENST00000399982.2	-	1	587	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	CHD8_ENST00000557364.1_Missense_Mutation_p.V175L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	175					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.V175L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTGTGCCACATGGGCACCA	0.557000													5	58					2.0095e-06	2.27449e-06	0.248553	1	0
ERBB2	2064	broad.mit.edu	37	17	37864639	37864639	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:37864639G>A	ENST00000406381.2	+	5	711	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.Q67Q|ERBB2_ENST00000584450.1_Silent_p.Q97Q|ERBB2_ENST00000541774.1_Silent_p.Q82Q|ERBB2_ENST00000540147.1_Silent_p.Q67Q|ERBB2_ENST00000269571.5_Silent_p.Q97Q|ERBB2_ENST00000540042.1_Silent_p.Q67Q|ERBB2_ENST00000578199.1_Silent_p.Q67Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	97					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.Q97Q(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCCACTGCAGAGGCTGCGGA	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			12	103					0	0	0.520397	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:10920118C>G	ENST00000298232.7	-	18	1449	c.1082G>C	c.(1081-1083)aGc>aCc	p.S361T	TPTE_ENST00000361285.4_Missense_Mutation_p.S379T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S341T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													10	194					0	0	0.479597	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741088	146741088	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:146741088G>T	ENST00000361727.3	+	4	1008	c.492G>T	c.(490-492)ctG>ctT	p.L164L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	164	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L164L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGTGCCTCTGGATTGGAATG	0.443000										HNSCC(39;0.1)			30	229					7.11191e-15	9.51333e-15	0.769981	1	0
SLC6A5	9152	broad.mit.edu	37	11	20623178	20623178	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:20623178G>T	ENST00000525748.1	+	2	780	c.507G>T	c.(505-507)gtG>gtT	p.V169V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V169V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCACGTCCGTGCTCCCGGGCA	0.657000													9	41					1.61879e-10	1.99444e-10	0.411799	1	0
C1orf226	400793	broad.mit.edu	37	1	162353098	162353098	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:162353098G>A	ENST00000458626.2	+	2	616	c.444G>A	c.(442-444)ctG>ctA	p.L148L	C1orf226_ENST00000426197.2_Silent_p.L191L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	148								p.L191L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCAGCAGTCTGGAGTATGGGA	0.622000													9	31					0	0	0.361761	0	0
WDPCP	51057	broad.mit.edu	37	2	63349192	63349192	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:63349192C>A	ENST00000409120.1	-	12	5165		c.e12-1		WDPCP_ENST00000409199.1_Splice_Site|WDPCP_ENST00000398544.3_Splice_Site|WDPCP_ENST00000272321.7_Splice_Site			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector						cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCTGATTTCCTGCAAATAAA	0.269000													10	86					0.000978159	0.00104513	0.387290	1	0
MARCH3	115123	broad.mit.edu	37	5	126253786	126253786	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:126253786C>G	ENST00000308660.5	-	2	592	c.78G>C	c.(76-78)acG>acC	p.T26T	MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Silent_p.T26T	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	26					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	p.T26T(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AATCCTCCACCGTCTTCACCA	0.572000													6	94					0	0	0.278610	0	0
POT1	25913	broad.mit.edu	37	7	124475408	124475408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:124475408C>G	ENST00000357628.3	-	15	2028	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	POT1_ENST00000393329.1_Missense_Mutation_p.R346T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353000													49	291					0	0	0.870114	0	0
GLP2R	9340	broad.mit.edu	37	17	9792900	9792900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:9792900G>T	ENST00000262441.5	+	13	2053	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	GLP2R_ENST00000574745.1_Missense_Mutation_p.G334C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	514					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G514C(3)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGGGGAGCTGGGCGCCCAGCC	0.637000													11	52					3.86212e-05	4.22291e-05	0.361761	1	0
CCDC28A	25901	broad.mit.edu	37	6	139106400	139106400	+	Missense_Mutation	SNP	G	G	A	rs143442772		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:139106400G>A	ENST00000332797.6	+	4	784	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	210								p.R210Q(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAACATGTTCGGGGAATGCAG	0.403000													34	152					0	0	0.847076	0	0
PAX7	5081	broad.mit.edu	37	1	18960982	18960982	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:18960982C>G	ENST00000420770.2	+	2	354	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	PAX7_ENST00000375375.3_Missense_Mutation_p.Q91E|PAX7_ENST00000400661.3_Missense_Mutation_p.Q91E	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	91	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q91E(4)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TTGCCGCTACCAGGAGACCGG	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								8	24					0	0	0.278610	0	0
DYDC2	84332	broad.mit.edu	37	10	82122230	82122230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:82122230G>T	ENST00000372199.1	+	4	629	c.31G>T	c.(31-33)Gga>Tga	p.G11*	DYDC2_ENST00000372197.1_Nonsense_Mutation_p.G11*|DYDC2_ENST00000444807.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000256039.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000372198.1_Nonsense_Mutation_p.G25*			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	11							protein binding	p.G11*(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAGGTGCTTTGGAAATTGCCT	0.443000													15	67					1.3612e-06	1.5441e-06	0.479597	1	0
LTBP2	4053	broad.mit.edu	37	14	75052556	75052556	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:75052556C>A	ENST00000261978.4	-	3	1217		c.e3+1		LTBP2_ENST00000556690.1_Splice_Site|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGGGACTTACCCAGCTGGTG	0.647000													13	38					1.67942e-08	1.97917e-08	0.539581	1	0
CFI	3426	broad.mit.edu	37	4	110670479	110670479	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:110670479T>A	ENST00000394634.2	-	10	1252		c.e10-2		CFI_ENST00000394635.3_Splice_Site|CFI_ENST00000512148.1_Splice_Site	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I						complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAGGTCTCCCTGTAAAAGACA	0.448000													25	158					0	0	0.750413	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003139	16003139	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:16003139C>G	ENST00000221700.5	-	5	600	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E20Q|CYP4F2_ENST00000592328.1_Missense_Mutation_p.E169Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	169				E -> D (in Ref. 7; AAH67440).	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.E169Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACACTCTCATTGAAAATC	0.507000													81	564					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113304844	113304844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:113304844C>G	ENST00000297405.5	-	55	8954	c.8710G>C	c.(8710-8712)Ggg>Cgg	p.G2904R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2834R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2864R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2735R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2904	Sushi 19.					integral to membrane|plasma membrane		p.G2904R(2)|p.G2864R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAGATACCCAATATTGCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	419					0	0	0.779181	0	0
FAT3	120114	broad.mit.edu	37	11	92531802	92531802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:92531802G>A	ENST00000298047.6	+	9	5640	c.5623G>A	c.(5623-5625)Gat>Aat	p.D1875N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1725N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1875N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1875	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D1875N(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGTGACAGATGTGAATGA	0.453000										TCGA Ovarian(4;0.039)			10	72					0	0	0.335167	0	0
PRMT1	3276	broad.mit.edu	37	19	50188237	50188237	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:50188237G>A	ENST00000532489.1	+	8	1070	c.564G>A	c.(562-564)gaG>gaA	p.E188E	PRMT1_ENST00000454376.2_Silent_p.E234E|PRMT1_ENST00000391851.4_Silent_p.E216E			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	215						cytoplasm	protein methyltransferase activity	p.E210E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCATTAAGGAGCCCCTAGTGG	0.612000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	76					0	0	0.608945	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504896	95504896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:95504896T>C	ENST00000297591.5	-	21	4867	c.4792A>G	c.(4792-4794)Acc>Gcc	p.T1598A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1598					mRNA processing|RNA splicing	nucleus		p.T1598A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTATAAAGGTCTCATGCTTG	0.368000													24	181					0	0	0.706142	0	0
PACSIN3	29763	broad.mit.edu	37	11	47204070	47204070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:47204070C>A	ENST00000539589.1	-	4	437	c.95G>T	c.(94-96)gGg>gTg	p.G32V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G32V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	32	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.G32V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAGCCGGTGCCCGTCCTCCAC	0.652000													5	18					0.248553	0.250989	0.248553	1	0
MYH2	4620	broad.mit.edu	37	17	10428361	10428361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10428361C>A	ENST00000245503.5	-	34	5068	c.4684G>T	c.(4684-4686)Gga>Tga	p.G1562*	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.G1562*|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1562					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1562*(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGATCTTTCCCTCTTCATGT	0.403000													28	158					1.06647e-15	1.45685e-15	0.788014	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735071	37735071	+	Splice_Site	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:37735071T>G	ENST00000330843.4	-	2	384		c.e2-2		RAB11FIP1_ENST00000524118.1_5'UTR|RAB11FIP1_ENST00000287263.4_Splice_Site|RAB11FIP1_ENST00000522727.1_Splice_Site	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)						protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTATACCACCTGAAAGGAGAA	0.463000													21	128					0	0	0.654019	0	0
ANO6	196527	broad.mit.edu	37	12	45782068	45782068	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:45782068G>A	ENST00000320560.8	+	11	1492	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	ANO6_ENST00000441606.2_Silent_p.V412V|ANO6_ENST00000423947.3_Silent_p.V451V|ANO6_ENST00000425752.2_Silent_p.V430V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.V430V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	430					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.V430V(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCACGTAGTGATAAATGAGA	0.463000													121	424					0	0	0.870114	0	0
TDRD5	163589	broad.mit.edu	37	1	179621246	179621246	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:179621246G>A	ENST00000444136.1	+	13	2324	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E692K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E692K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	692					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E692K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTCTTGACAGAACTGGGTTA	0.413000													56	450					0	0	0.870114	0	0
C4orf17	84103	broad.mit.edu	37	4	100451036	100451036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:100451036C>A	ENST00000514652.1	+	5	821	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	C4orf17_ENST00000326581.4_Missense_Mutation_p.S156Y|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	156								p.S156Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GGCTCCTGTTCTTCAGGGATG	0.368000													30	163					3.09479e-21	4.57993e-21	0.827153	1	0
RSBN1	54665	broad.mit.edu	37	1	114310969	114310969	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:114310969G>A	ENST00000261441.5	-	5	1764	c.1701C>T	c.(1699-1701)acC>acT	p.T567T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	567						nucleus		p.T567T(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTCACTGGTCCGAGGTA	0.433000													12	112					0	0	0.457914	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164231	150164231	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:150164231G>A	ENST00000307271.3	+	2	1019	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	149						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.E149K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGATTTCATTGAAAAAAACAA	0.448000													17	199					0	0	0.592651	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384244	236384244	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:236384244G>A	ENST00000354619.5	-	15	1432	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	411					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.L411L(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AATATCTTCAGGGCAGTTCCT	0.323000													3	26					0	0	0.150653	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:140562928C>G	ENST00000361016.2	+	1	1949	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000													11	80					0	0	0.361761	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324130	61324130	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:61324130G>A	ENST00000283752.5	-	7	846	c.703C>T	c.(703-705)Cca>Tca	p.P235S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	235					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P235S(2)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTTTGTATGGTATTTCCAGG	0.408000													23	311					0	0	0.667858	0	0
WIPI1	55062	broad.mit.edu	37	17	66430737	66430737	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:66430737C>T	ENST00000262139.5	-	7	651	c.652G>A	c.(652-654)Gat>Aat	p.D218N	WIPI1_ENST00000546360.1_Missense_Mutation_p.D136N|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	218					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.D218N(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTGCCCATCAGGGACAGAG	0.498000													10	81					0	0	0.435327	0	0
OCA2	4948	broad.mit.edu	37	15	28211878	28211878	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:28211878A>T	ENST00000354638.3	-	15	1749	c.1594T>A	c.(1594-1596)Tgg>Agg	p.W532R	OCA2_ENST00000382996.2_Missense_Mutation_p.W532R|OCA2_ENST00000353809.5_Missense_Mutation_p.W508R	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	532					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.W532R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTCTGTTCCAGTAAAGGAGT	0.443000									Oculocutaneous Albinism				18	94					0	0	0.575678	0	0
CHD9	80205	broad.mit.edu	37	16	53330938	53330938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:53330938A>T	ENST00000566029.1	+	30	5790	c.5581A>T	c.(5581-5583)Aga>Tga	p.R1861*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1861*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1861*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R1861*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACCCTGACAGAGGCCAATT	0.358000													34	128					0	0	0.834066	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165312	161165312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:161165312C>A	ENST00000367996.4	-	4	1632	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	402	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.E402*(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCAGGGCTCCTCAGGATCC	0.547000													46	276					1.19451e-25	1.85293e-25	0.870114	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156695	55156695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:55156695G>T	ENST00000257290.5	+	22	3427	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E792D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1032					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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	p.E1032D(2)		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)	CTGAGGAGGAGGACCTGGGCA	0.587000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	226					5.8336e-16	8.01148e-16	0.779181	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374522	95374522	+	RNA	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:95374522A>G	ENST00000494840.1	-	0	1339					NR_077228.1																						TTATTTATTAACTTCAACAAT	0.433000													4	25					0	0	0.184627	0	0
SLC6A15	55117	broad.mit.edu	37	12	85279239	85279239	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:85279239A>T	ENST00000450363.3	-	4	1007	c.549T>A	c.(547-549)ccT>ccA	p.P183P	SLC6A15_ENST00000266682.5_Silent_p.P183P|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Silent_p.P76P	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	183					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P183P(4)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCACCAAAGGACACTGAT	0.368000													25	54					0	0	0.693898	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211830	107211830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:107211830C>T	ENST00000400198.3	-	2	767	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ARGLU1_ENST00000375926.1_Silent_p.K24K	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	175	Glu-rich.							p.E175K(2)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGCTCGAGTTCTTCGAGCAAC	0.488000													25	153					0	0	0.681144	0	0
TICRR	90381	broad.mit.edu	37	15	90128938	90128938	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:90128938G>T	ENST00000268138.7	+	4	1281		c.e4-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator									p.?(2)									TTCTCACGTAGGTTGCTGATG	0.448000													3	35					0.115264	0.118485	0.115264	1	0
OMD	4958	broad.mit.edu	37	9	95179363	95179363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:95179363G>T	ENST00000375550.4	-	2	753	c.478C>A	c.(478-480)Ctt>Att	p.L160I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	160					cell adhesion	proteinaceous extracellular matrix		p.L160I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GATTTAGGAAGAGGAAATGGA	0.348000			T	USP6	aneurysmal bone cysts								18	143					4.96729e-08	5.73577e-08	0.575678	1	0
RGPD3	653489	broad.mit.edu	37	2	107041047	107041047	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:107041047A>T	ENST00000409886.3	-	20	3463	c.3376T>A	c.(3376-3378)Tca>Aca	p.S1126T	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1126	RanBD1 1.				intracellular transport		binding	p.S1126T(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTCTATCTGATCCAGAGAGG	0.433000													60	591					0	0	0.870114	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753502	25753502	+	RNA	SNP	C	C	T	rs35094692	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:25753502C>T	ENST00000586223.1	+	0	1512					NR_033892.1																						CTCGGGCTCACCCCGTGCCTG	0.567000													4	69					0	0	0.278610	0	0
CD1E	913	broad.mit.edu	37	1	158325684	158325684	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158325684T>C	ENST00000444681.2	+	3	689	c.396T>C	c.(394-396)caT>caC	p.H132H	CD1E_ENST00000368164.3_Silent_p.H42H|CD1E_ENST00000368154.1_Silent_p.H42H|CD1E_ENST00000368165.3_Silent_p.H141H|CD1E_ENST00000368163.3_Silent_p.H231H|CD1E_ENST00000368166.3_Silent_p.H42H|CD1E_ENST00000434258.1_Silent_p.H229H|CD1E_ENST00000368155.3_Silent_p.H141H|CD1E_ENST00000368156.1_Silent_p.H141H|CD1E_ENST00000452291.2_Silent_p.H42H|CD1E_ENST00000368157.1_Silent_p.H42H|CD1E_ENST00000368167.3_Silent_p.H231H|CD1E_ENST00000368161.3_Silent_p.H231H|CD1E_ENST00000368160.3_Silent_p.H231H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	231					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.H231H(2)		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)					TTGTGTGCCATGTCTCAGGAT	0.582000													39	108					0	0	0.859065	0	0
MS4A6E	245802	broad.mit.edu	37	11	60102398	60102398	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:60102398C>G	ENST00000300182.4	+	1	95	c.30C>G	c.(28-30)acC>acG	p.T10T		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	10			T -> A (in dbSNP:rs2304934).			integral to membrane	receptor activity	p.T10T(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CCAATGAGACCATCATAATGC	0.443000													30	216					0	0	0.834066	0	0
CHD4	1108	broad.mit.edu	37	12	6697022	6697022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:6697022C>G	ENST00000309577.6	-	24	3722	c.3559G>C	c.(3559-3561)Gtg>Ctg	p.V1187L	CHD4_ENST00000544484.1_Missense_Mutation_p.V1184L|CHD4_ENST00000357008.2_Missense_Mutation_p.V1187L|CHD4_ENST00000544040.1_Missense_Mutation_p.V1180L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1187	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V1187L(4)		central_nervous_system(2)	2						TTCTTTGCCACCTGCGTGATG	0.517000													14	229					0	0	0.457914	0	0
OR4P4	81300	broad.mit.edu	37	11	55405957	55405957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:55405957C>G	ENST00000314612.2	+	1	124	c.124C>G	c.(124-126)Ctc>Gtc	p.L42V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L42V(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGGAAACTTACTCATAATGAT	0.383000													47	113					0	0	0.870114	0	0
THADA	63892	broad.mit.edu	37	2	43801863	43801863	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:43801863C>T	ENST00000403856.1	-	12	1488	c.1341G>A	c.(1339-1341)ttG>ttA	p.L447L	THADA_ENST00000405006.4_Silent_p.L447L|THADA_ENST00000415080.2_Silent_p.L157L|THADA_ENST00000405975.2_Silent_p.L447L|THADA_ENST00000402360.2_Silent_p.L447L|THADA_ENST00000404790.1_Silent_p.L447L|THADA_ENST00000330266.7_Silent_p.L157L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	447							binding	p.L447L(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATGCCATTCCAATCGTAAAA	0.403000													26	164					0	0	0.717897	0	0
OVCH1	341350	broad.mit.edu	37	12	29598250	29598250	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:29598250C>T	ENST00000318184.5	-	23	2841	c.2842G>A	c.(2842-2844)Ggt>Agt	p.G948S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	948	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G948S(3)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAAATGCACCTCGTACAAGG	0.373000													55	171					0	0	0.870114	0	0
SREBF2	6721	broad.mit.edu	37	22	42271363	42271363	+	Missense_Mutation	SNP	G	G	A	rs141522422	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:42271363G>A	ENST00000361204.4	+	6	1278	c.1112G>A	c.(1111-1113)aGg>aAg	p.R371K		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	371	Helix-loop-helix motif.|Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	p.R371K(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCGTTCTGAGGAAGGCCATT	0.473000													4	108					0	0	0.184627	0	0
FAM124B	79843	broad.mit.edu	37	2	225266018	225266018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:225266018G>T	ENST00000389874.3	-	1	693	c.468C>A	c.(466-468)taC>taA	p.Y156*	FAM124B_ENST00000409685.3_Nonsense_Mutation_p.Y156*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Y156*	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	156							protein binding	p.Y156*(4)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGATCATCTCGTAGAGTCTGA	0.522000													26	195					4.39465e-27	6.87916e-27	0.769981	1	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													2	4					0	0	0.217242	0	0
RGS20	8601	broad.mit.edu	37	8	54859271	54859271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:54859271C>A	ENST00000297313.3	+	4	798	c.706C>A	c.(706-708)Cac>Aac	p.H236N	RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.H89N|RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.H121N	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	236					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H236N(2)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AATAGCTTCCCACGAACTCAG	0.408000													9	130					5.50884e-06	6.20799e-06	0.411799	1	0
BCHE	590	broad.mit.edu	37	3	165548428	165548428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:165548428G>T	ENST00000264381.3	-	2	560	c.394C>A	c.(394-396)Cca>Aca	p.P132T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	132					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.P132T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GCATTTTTTGGTTTAGGTGCT	0.398000													24	100					7.38237e-10	8.90379e-10	0.706142	1	0
MARK1	4139	broad.mit.edu	37	1	220825386	220825386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:220825386G>T	ENST00000402574.1	+	15	2227	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	MARK1_ENST00000366917.4_Missense_Mutation_p.V544F|MARK1_ENST00000366918.4_Missense_Mutation_p.V522F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	544					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V544F(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCCTCTGCTGTCCCCTCAGC	0.498000													19	144					2.39556e-15	3.24662e-15	0.639603	1	0
NUDCD1	84955	broad.mit.edu	37	8	110334668	110334668	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110334668T>C	ENST00000239690.4	-	2	517	c.143A>G	c.(142-144)gAt>gGt	p.D48G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D19G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	48								p.D48G(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATATTGATCATCTCGAAGTTT	0.368000													40	239					0	0	0.870114	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784480	27784480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:27784480G>T	ENST00000261588.4	+	23	4278	c.4259G>T	c.(4258-4260)gGc>gTc	p.G1420V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1420								p.G1420V(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCCTCACCGGCCTGGAGCTG	0.498000													6	19					0.00198382	0.00210653	0.248553	1	0
C10orf90	118611	broad.mit.edu	37	10	128118409	128118409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:128118409G>C	ENST00000284694.7	-	7	2028	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	C10orf90_ENST00000480379.1_Missense_Mutation_p.F40L|C10orf90_ENST00000454341.1_Missense_Mutation_p.F539L|C10orf90_ENST00000544758.1_Missense_Mutation_p.F733L|C10orf90_ENST00000356858.3_Missense_Mutation_p.F589L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	636								p.F636L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTTGGGTTTGAACAAGTTAT	0.378000													15	95					0	0	0.539581	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667825	60667825	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:60667825C>A	ENST00000400324.4	-	4	652	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400330.1_Silent_p.R144R|DIAPH3_ENST00000267215.4_Silent_p.R144R|DIAPH3_ENST00000377908.2_Silent_p.R133R|DIAPH3_ENST00000400319.1_Silent_p.R74R	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTCCTTTTCCCGCAATGGTG	0.333000													14	82					0.000132079	0.000143503	0.575678	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597000													40	110					0	0	0.847076	0	0
GFRAL	389400	broad.mit.edu	37	6	55223728	55223728	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:55223728G>A	ENST00000340465.2	+	6	830	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	248						integral to membrane	receptor activity	p.V248V(2)		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)			GGCAGCGTGTGACTAGAAAGT	0.373000													90	471					0	0	0.870114	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825920	146825920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:146825920T>G	ENST00000361727.3	+	7	1591	c.1075T>G	c.(1075-1077)Tca>Gca	p.S359A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	359	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S359A(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTAGAGCCCTCAAATGTGGT	0.358000										HNSCC(39;0.1)			16	131					0	0	0.557998	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123471	108123471	+	Splice_Site	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:108123471G>C	ENST00000374720.3	+	8	1007		c.e8-1		SLC44A1_ENST00000374723.1_Splice_Site|SLC44A1_ENST00000343170.7_Splice_Site|SLC44A1_ENST00000374724.1_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1							integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.?(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGTCTCCAGGAGGCACAGG	0.408000													24	161					0	0	0.717897	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013262	183013262	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:183013262T>A	ENST00000328913.3	-	13	1798	c.1501A>T	c.(1501-1503)Aaa>Taa	p.K501*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.K501*|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K501*(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCTGGGCTTTGGCCTACAGT	0.488000													56	167					0	0	0.870114	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													5	23					0	0	0.335167	0	0
KCNT2	343450	broad.mit.edu	37	1	196395118	196395118	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:196395118C>A	ENST00000367433.5	-	11	1086	c.984_splice	c.e11-1	p.D329_splice	KCNT2_ENST00000294725.8_Splice_Site_p.D329_splice|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Splice_Site_p.D329_splice			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	329						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D329Y(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATAATAATCCTATTCAAAA	0.318000													16	48					3.32936e-07	3.81875e-07	0.539581	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777518	43777518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:43777518C>T	ENST00000389420.3	-	31	4639	c.4640G>A	c.(4639-4641)tGt>tAt	p.C1547Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1547	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.C1547Y(2)|p.R1547K(2)		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)		TTTTCTCTCACATGATGTTGA	0.348000													74	235					0	0	0.870114	0	0
NLRP2	55655	broad.mit.edu	37	19	55508760	55508760	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:55508760C>T	ENST00000543010.1	+	12	3098	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	NLRP2_ENST00000339757.7_Silent_p.V963V|NLRP2_ENST00000537859.1_Silent_p.V963V|NLRP2_ENST00000448584.2_Silent_p.V985V|NLRP2_ENST00000391721.4_Silent_p.V961V|NLRP2_ENST00000538819.1_Silent_p.V961V|NLRP2_ENST00000427260.2_Silent_p.V962V|NLRP2_ENST00000263437.6_Silent_p.V982V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	985					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V985V(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGCCTCGTCACTCTGGACC	0.542000													34	143					0	0	0.812448	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	73					1.28384e-07	1.47584e-07	0.608945	1	0
TBC1D1	23216	broad.mit.edu	37	4	38097636	38097636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:38097636G>T	ENST00000261439.4	+	14	2678	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.E869*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	775						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TACAGTGTGGGAAAAGATGCT	0.413000													36	235					4.16155e-14	5.45342e-14	0.840704	1	0
IL1F10	84639	broad.mit.edu	37	2	113832364	113832364	+	Silent	SNP	C	C	T	rs34320972	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:113832364C>T	ENST00000393197.2	+	3	604	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_ENST00000341010.2_Silent_p.I61I|IL1F10_ENST00000337569.3_Silent_p.I61I	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	61						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I61I(2)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582000													7	130					0	0	0.248553	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:150840204C>G	ENST00000370357.4	+	13	1635	c.1390C>G	c.(1390-1392)Ctc>Gtc	p.L464V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	464						nucleus	signal transducer activity	p.L464V(4)|p.L464F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000													26	106					0	0	0.750413	0	0
CGNL1	84952	broad.mit.edu	37	15	57731244	57731244	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:57731244A>G	ENST00000281282.5	+	2	1125	c.1047A>G	c.(1045-1047)tcA>tcG	p.S349S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	349	Head.					myosin complex|tight junction	motor activity	p.S349S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATACAGGATCAATTCCTGGTG	0.428000													22	97					0	0	0.681144	0	0
TLN2	83660	broad.mit.edu	37	15	62993362	62993362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:62993362C>G	ENST00000561311.1	+	16	1875	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q549E			Q9Y4G6	TLN2_HUMAN	talin 2	549					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.Q549E(2)		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						AATCCATTCTCAAGTTGATGC	0.473000													16	65					0	0	0.624587	0	0
AMOT	154796	broad.mit.edu	37	X	112024171	112024171	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:112024171T>A	ENST00000371959.3	-	9	2415	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S	AMOT_ENST00000304758.1_Missense_Mutation_p.T397S|AMOT_ENST00000371962.1_Missense_Mutation_p.T574S|AMOT_ENST00000524145.1_Missense_Mutation_p.T806S|AMOT_ENST00000371958.1_Missense_Mutation_p.T574S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	806					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T806S(2)|p.T397S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGGGAGCCAGTCAGGGTGGAT	0.522000													50	129					0	0	0.870114	0	0
GFPT1	2673	broad.mit.edu	37	2	69556903	69556903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:69556903C>A	ENST00000357308.4	-	16	1688	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	GFPT1_ENST00000361060.4_Missense_Mutation_p.V486L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	504	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.V486L(2)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCAAACATCACAAGGGATACA	0.398000													36	251					1.00953e-15	1.38273e-15	0.864702	1	0
SLC12A2	6558	broad.mit.edu	37	5	127516628	127516628	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:127516628T>A	ENST00000262461.2	+	23	3343	c.3154T>A	c.(3154-3156)Tgt>Agt	p.C1052S	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.C1036S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1052					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.C1052S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAAAGACTGTAAGATCAG	0.328000													116	300					0	0	0.870114	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814500	106814500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:106814500G>C	ENST00000407775.2	+	8	2440	c.2190G>C	c.(2188-2190)caG>caC	p.Q730H	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q461H|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q598H	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	730					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	p.Q730H(2)		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)			CTGCCATGCAGAGAACCATGC	0.522000													11	68					0	0	0.387290	0	0
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:135438316C>A	ENST00000394143.1	+	9	7210	c.6919C>A	c.(6919-6921)Cga>Aga	p.R2307R	GPR112_ENST00000394141.1_Silent_p.R2102R|GPR112_ENST00000370652.1_Silent_p.R2307R|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Silent_p.R2102R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2307R(3)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTCATGGATCGAGCTATTGT	0.343000													33	96					2.2871e-25	3.5371e-25	0.834066	1	0
FOPNL	123811	broad.mit.edu	37	16	15967411	15967411	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:15967411C>A	ENST00000255759.6	-	4	414	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	FOPNL_ENST00000575073.1_Intron|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000575744.1_Missense_Mutation_p.G63W|FOPNL_ENST00000573429.1_Missense_Mutation_p.G153W|FOPNL_ENST00000573396.1_Intron	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	129					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	p.G129W(2)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AGTGAAGGCCCTTTCAGAAAT	0.418000													40	150					3.54909e-21	5.22223e-21	0.859065	1	0
FANK1	92565	broad.mit.edu	37	10	127685120	127685120	+	Splice_Site	SNP	C	C	T	rs141545587		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:127685120C>T	ENST00000368695.1	+	5	504	c.380_splice	c.e5-1	p.R128_splice	FANK1_ENST00000368693.1_Splice_Site_p.R134_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	134						cytoplasm|nucleus		p.R134C(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TTTCCCAAGCCGTGTTAAGGT	0.448000													42	315					0	0	0.870114	0	0
FRZB	2487	broad.mit.edu	37	2	183723563	183723563	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:183723563T>A	ENST00000295113.4	-	2	1088		c.e2-2			NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein						brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TAGGAAAATCTGAAAGGAGGT	0.348000													49	172					0	0	0.870114	0	0
VPS13B	157680	broad.mit.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:100205158C>G	ENST00000395996.1	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000355155.1_Silent_p.L796L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L796L|VPS13B_ENST00000358544.2_Silent_p.L796L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373000													15	432					0	0	0.520397	0	0
OR5L1	219437	broad.mit.edu	37	11	55579766	55579766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:55579766C>A	ENST00000333973.2	+	1	913	c.824C>A	c.(823-825)aCc>aAc	p.T275N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGTGGCCACCGTGTTCTAC	0.468000													32	142					3.78316e-11	4.74045e-11	0.819951	1	0
OR51L1	119682	broad.mit.edu	37	11	5020771	5020771	+	Missense_Mutation	SNP	C	C	A	rs150980273	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:5020771C>A	ENST00000321543.1	+	1	559	c.559C>A	c.(559-561)Cta>Ata	p.L187I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187I(2)		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)		CCAGGATGTTCTAAGATTATC	0.448000													52	347					2.14255e-21	3.17986e-21	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:138764850G>C	ENST00000242351.5	-	4	1153	c.837C>G	c.(835-837)atC>atG	p.I279M	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I279M|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I279M	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582000													14	170					0	0	0.457914	0	0
NPAP1	23742	broad.mit.edu	37	15	24923924	24923924	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:24923924T>G	ENST00000329468.2	+	1	3384	c.2910T>G	c.(2908-2910)agT>agG	p.S970R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S970R(2)									ACAATGCAAGTGCTTTCCCCA	0.478000													13	71					0	0	0.435327	0	0
FAM83B	222584	broad.mit.edu	37	6	54805781	54805781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:54805781C>A	ENST00000306858.7	+	5	2128	c.2012C>A	c.(2011-2013)tCa>tAa	p.S671*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	671								p.S671*(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTGACAACTCAAAAGCCAAC	0.353000													13	100					1.5739e-10	1.94845e-10	0.500413	1	0
DROSHA	29102	broad.mit.edu	37	5	31526186	31526186	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:31526186C>A	ENST00000511367.2	-	4	1098	c.854_splice	c.e4+1	p.R285_splice	DROSHA_ENST00000513349.1_Splice_Site_p.R285_splice|DROSHA_ENST00000344624.3_Splice_Site_p.R285_splice|DROSHA_ENST00000442743.1_Splice_Site_p.R285_splice	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	285	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R285I(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCGGTTTACCTGCTCCGTTC	0.527000													44	157					1.54886e-18	2.18538e-18	0.870114	1	0
CDH7	1005	broad.mit.edu	37	18	63547963	63547963	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:63547963C>A	ENST00000397968.2	+	12	2617	c.2191C>A	c.(2191-2193)Cag>Aag	p.Q731K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q731K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	731					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q731K(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACTCCCTGCAGACATATGC	0.398000													23	127					6.32553e-13	8.04358e-13	0.681144	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:140346519G>A	ENST00000289269.5	+	1	700	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		56	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCGGCGCGCTCGTGGGCA	0.692000													3	4					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	216251604	216251604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216251604C>G	ENST00000366943.2	-	27	5785	c.5399G>C	c.(5398-5400)tGg>tCg	p.W1800S	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W1800S|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1800	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W1800S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTTTATTCCACTTTCCATT	0.433000										HNSCC(13;0.011)			207	523					0	0	0.870114	0	0
PTPN9	5780	broad.mit.edu	37	15	75766070	75766070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:75766070C>A	ENST00000306726.2	-	10	1680	c.1168G>T	c.(1168-1170)Gta>Tta	p.V390L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	390	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.V390L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCCATACCATGAGCCAG	0.443000													55	233					1.77791e-30	2.81731e-30	0.870114	1	0
MYO1C	4641	broad.mit.edu	37	17	1385813	1385813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:1385813T>A	ENST00000359786.5	-	5	910	c.586A>T	c.(586-588)Agc>Tgc	p.S196C	MYO1C_ENST00000438665.2_Missense_Mutation_p.S177C|MYO1C_ENST00000545534.2_Missense_Mutation_p.S172C|MYO1C_ENST00000575158.1_Missense_Mutation_p.S161C|MYO1C_ENST00000361007.2_Missense_Mutation_p.S161C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	196	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.S161C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAACCTGCTGGAGTTATCG	0.562000													12	50					0	0	0.457914	0	0
ITGA8	8516	broad.mit.edu	37	10	15688991	15688991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:15688991G>T	ENST00000378076.3	-	12	1414	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	354					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P354H(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACTTCTCTGGGGTTGCTCTC	0.507000													26	153					3.65163e-15	4.91015e-15	0.706142	1	0
SLC6A5	9152	broad.mit.edu	37	11	20668466	20668466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:20668466C>G	ENST00000525748.1	+	14	2329	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	686					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P686A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTTGTAACCCCAACCATTTT	0.408000													14	205					0	0	0.457914	0	0
EPHA6	285220	broad.mit.edu	37	3	96706286	96706286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:96706286G>T	ENST00000389672.5	+	3	601	c.563G>T	c.(562-564)cGt>cTt	p.R188L	EPHA6_ENST00000470610.2_Missense_Mutation_p.R188L|EPHA6_ENST00000542517.1_Missense_Mutation_p.R94L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	93	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R94L(4)|p.R188L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGATCTCCCGTGATGCAGCT	0.403000													86	220					1.3009e-50	2.17521e-50	0.870114	1	0
FATE1	89885	broad.mit.edu	37	X	150889897	150889897	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:150889897A>T	ENST00000370350.3	+	3	350	c.265A>T	c.(265-267)Aga>Tga	p.R89*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	89						endoplasmic reticulum|integral to membrane		p.R89*(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAATGCTGAGAGAATCAGG	0.542000													41	78					0	0	0.859065	0	0
ABCA6	23460	broad.mit.edu	37	17	67102211	67102211	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:67102211C>T	ENST00000284425.2	-	19	2705	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	844					transport	integral to membrane	ATP binding|ATPase activity	p.R844H(2)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTTTAAGAAACGGAGCCGTGC	0.433000													23	164					0	0	0.740014	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													4	9					0	0	0.278610	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508135	65508135	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:65508135C>T	ENST00000355045.2	-	2	276		c.e2+1			NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.?(2)									CAGAGCCTTACCTCTCAGACT	0.542000													69	707					0	0	0.870114	0	0
LOC645752	645752	broad.mit.edu	37	15	78213760	78213760	+	RNA	SNP	C	C	T	rs4886968	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:78213760C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTATTGCAGGCGGCCAGCCAG	0.542000													3	23					0	0	0.150653	0	0
FNDC1	84624	broad.mit.edu	37	6	159654335	159654335	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:159654335T>A	ENST00000297267.9	+	11	2991	c.2791T>A	c.(2791-2793)Tcc>Acc	p.S931T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S868T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	931						extracellular region		p.S931T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAACCCCAAATCCACAGGGGC	0.612000													9	47					0	0	0.387290	0	0
OR6V1	346517	broad.mit.edu	37	7	142749605	142749605	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:142749605C>G	ENST00000418316.1	+	1	189	c.168C>G	c.(166-168)ccC>ccG	p.P56P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56P(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TACATACACCCATGTACTTCT	0.498000													119	653					0	0	0.870114	0	0
DNAH1	25981	broad.mit.edu	37	3	52430796	52430796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:52430796G>A	ENST00000420323.2	+	72	11854	c.11593G>A	c.(11593-11595)Gat>Aat	p.D3865N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3930	AAA 6 (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	p.D3929N(2)|p.D3865N(2)		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)		GGACGAATATGATGACATCCC	0.582000													20	143					0	0	0.667858	0	0
C17orf66	256957	broad.mit.edu	37	17	34192287	34192287	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:34192287G>T	ENST00000311880.2	-	3	400	c.252C>A	c.(250-252)caC>caA	p.H84Q	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.H84Q	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	84							binding	p.H84Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CATACAGGTCGTGCCAGTGCG	0.507000													46	213					9.52127e-25	1.4681e-24	0.870114	1	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:32631037G>T	ENST00000266086.4	-	8	719	c.708C>A	c.(706-708)taC>taA	p.Y236*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000													50	393					3.31993e-32	5.35976e-32	0.870114	1	0
C9orf64	84267	broad.mit.edu	37	9	86559772	86559772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:86559772G>A	ENST00000376344.3	-	3	946	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.Q103*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	244								p.Q244*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAAGAACCTGAGGTAATCTA	0.403000													36	185					0	0	0.819951	0	0
OR1N1	138883	broad.mit.edu	37	9	125289132	125289132	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:125289132C>A	ENST00000304880.2	-	1	440	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147C(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGAGGACCCAGCACAATG	0.537000													29	143					1.80694e-10	2.21566e-10	0.740014	1	0
F13A1	2162	broad.mit.edu	37	6	6224933	6224933	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:6224933C>A	ENST00000264870.3	-	7	1224	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	320					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G320V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTAAAGACACCAGCAAAAAC	0.418000													29	212					3.33393e-15	4.5065e-15	0.804634	1	0
GRID2	2895	broad.mit.edu	37	4	94436452	94436452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:94436452G>T	ENST00000282020.4	+	13	2341	c.2083G>T	c.(2083-2085)Gga>Tga	p.G695*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.G600*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	695					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G695*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCGCATGAAAGGACTGAATCC	0.488000													26	148					1.66031e-10	2.04071e-10	0.667858	1	0
COL24A1	255631	broad.mit.edu	37	1	86488678	86488678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:86488678G>A	ENST00000370571.2	-	15	2428	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P688S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	688	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent	p.P688S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTCCCACAGGGCCAACACTG	0.368000													8	74					0	0	0.387290	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250954	142250954	+	RNA	SNP	G	G	T	rs361438		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:142250954G>T	ENST00000390360.3	-	0	113																											CTGCTGCCAGGATCTGAGATG	0.522000													43	195					6.1719e-39	1.01227e-38	0.870114	1	0
PTPRC	5788	broad.mit.edu	37	1	198668802	198668802	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:198668802C>T	ENST00000367376.2	+	5	573	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PTPRC_ENST00000442510.2_Silent_p.L136L|PTPRC_ENST00000352140.3_Silent_p.L134L|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	134					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L134L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGCAAAACTCAACCCTACCC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	284					0	0	0.847076	0	0
LOC645752	645752	broad.mit.edu	37	15	78213768	78213768	+	RNA	SNP	C	C	A	rs12904130	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:78213768C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGCGGCCAGCCAGATCCTTGG	0.542000													3	21					0.115264	0.118485	0.115264	1	0
TRIM69	140691	broad.mit.edu	37	15	45059966	45059966	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:45059966A>T	ENST00000558173.1	+	5	5632	c.887A>T	c.(886-888)cAg>cTg	p.Q296L	TRIM69_ENST00000561043.1_Missense_Mutation_p.Q263L|TRIM69_ENST00000558329.1_Missense_Mutation_p.Q279L|TRIM69_ENST00000560442.1_Missense_Mutation_p.Q296L|TRIM69_ENST00000329464.4_Missense_Mutation_p.Q500L|TRIM69_ENST00000559390.1_Missense_Mutation_p.Q500L|TRIM69_ENST00000338264.4_Missense_Mutation_p.Q341L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	500					apoptosis	nuclear speck	zinc ion binding	p.Q500L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTACATCCACAGTAATGAGTC	0.358000													61	200					0	0	0.870114	0	0
GPRASP2	114928	broad.mit.edu	37	X	101972152	101972152	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:101972152G>A	ENST00000543253.1	+	5	3274	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q	GPRASP2_ENST00000332262.5_Silent_p.Q785Q|GPRASP2_ENST00000535209.1_Silent_p.Q785Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.Q785Q(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGTTTCAGAATATCAGTA	0.303000													12	148					0	0	0.457914	0	0
ITGA11	22801	broad.mit.edu	37	15	68631901	68631901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:68631901G>A	ENST00000423218.2	-	11	1308	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P405S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCGCGGAGAGGAATGACCTTC	0.607000													9	54					0	0	0.411799	0	0
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:98146809G>T	ENST00000357947.3	-	14	1978	c.1753C>A	c.(1753-1755)Cac>Aac	p.H585N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592000													32	109					8.72198e-27	1.35705e-26	0.870114	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110396316	110396316	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110396316C>T	ENST00000378402.5	+	5	539	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	145					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T145T(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTTAGAACCCCAACAATAA	0.284000										HNSCC(38;0.096)			7	118					0	0	0.278610	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885024	50885024	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:50885024C>T	ENST00000404795.3	-	3	1334	c.942G>A	c.(940-942)cgG>cgA	p.R314R	DMRTA2_ENST00000418121.1_Silent_p.R314R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R314R(2)		endometrium(1)|lung(4)|pancreas(1)	6						CCAGCGGCGTCCGCTGCCGTG	0.697000													5	33					0	0	0.278610	0	0
KCNA6	3742	broad.mit.edu	37	12	4919483	4919483	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:4919483C>T	ENST00000433855.1	+	1	1142	c.276C>T	c.(274-276)agC>agT	p.S92S	KCNA6_ENST00000280684.3_Silent_p.S92S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	92						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S92S(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCGGCCCAGCTTCGACGCCA	0.637000										HNSCC(72;0.22)			10	95					0	0	0.361761	0	0
DHX32	55760	broad.mit.edu	37	10	127569217	127569217	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:127569217T>A	ENST00000284690.3	-	1	667	c.177A>T	c.(175-177)agA>agT	p.R59S	DHX32_ENST00000284688.6_Missense_Mutation_p.R59S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	59						mitochondrion|nucleus	ATP binding|helicase activity	p.R59S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAGATCTTCTCTTTCTTTCA	0.383000													15	94					0	0	0.520397	0	0
OR51D1	390038	broad.mit.edu	37	11	4661252	4661252	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:4661252A>G	ENST00000357605.2	+	1	308	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M78V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCCTGGCCATGCTTTCCAC	0.512000													49	264					0	0	0.870114	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197502	95197502	+	Silent	SNP	G	G	T	rs111425618		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:95197502G>T	ENST00000354268.4	+	15	1894	c.1821G>T	c.(1819-1821)gcG>gcT	p.A607A	SMARCAD1_ENST00000457823.2_Silent_p.A607A|SMARCAD1_ENST00000509418.1_Silent_p.A177A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	607	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.A607A(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATAACTGTGCGATCAGCAGTT	0.368000													14	82					4.7546e-09	5.6681e-09	0.500413	1	0
TPX2	22974	broad.mit.edu	37	20	30388777	30388777	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:30388777A>G	ENST00000340513.4	+	19	2774	c.2246A>G	c.(2245-2247)cAt>cGt	p.H749R	TPX2_ENST00000300403.6_Missense_Mutation_p.H713R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	713					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.H713R(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTGCAGGTGCATAAGGCAAAT	0.413000													247	578					0	0	0.870114	0	0
HERC2	8924	broad.mit.edu	37	15	28483346	28483346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:28483346C>A	ENST00000261609.7	-	25	3874	c.3766G>T	c.(3766-3768)Gac>Tac	p.D1256Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1256	Cytochrome b5 heme-binding.				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	p.D1256Y(2)		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)		ACCACTGGGTCTTCCCCTGCA	0.458000													24	146					3.6726e-16	5.07075e-16	0.667858	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43796717	43796717	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:43796717T>C	ENST00000291532.3	-	11	2082	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.Y375C|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.Y373C|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.Y460C|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	376	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	p.Y376C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GATGCCACCGTACACGTCCCT	0.647000													7	101					0	0	0.307466	0	0
ASIC4	55515	broad.mit.edu	37	2	220397143	220397143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:220397143G>T	ENST00000358078.4	+	4	1357	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.R448L			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	448						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.R448L(2)									TGCCGGCTGCGCTGTGAAAAG	0.672000													11	43					4.93089e-13	6.30126e-13	0.457914	1	0
SSX3	10214	broad.mit.edu	37	X	48209509	48209509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:48209509G>T	ENST00000298396.2	-	6	431	c.379C>A	c.(379-381)Cca>Aca	p.P127T	SSX3_ENST00000376895.1_Missense_Mutation_p.P39T|SSX3_ENST00000376893.3_Missense_Mutation_p.P127T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P127T(4)		endometrium(3)|large_intestine(1)|lung(9)	13						GATGCTTCTGGCACTTCCTTC	0.438000													87	241					2.07245e-51	3.47659e-51	0.870114	1	0
CCDC147	159686	broad.mit.edu	37	10	106124511	106124511	+	Missense_Mutation	SNP	T	T	C	rs144185091	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:106124511T>C	ENST00000369704.3	+	4	595	c.461T>C	c.(460-462)tTc>tCc	p.F154S	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	154								p.F154S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTACTGAGGTTCAAAGAAGAA	0.438000													4	101					0	0	0.217242	0	0
BEST4	266675	broad.mit.edu	37	1	45253101	45253101	+	Nonsense_Mutation	SNP	G	G	A	rs138830699		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:45253101G>A	ENST00000372207.3	-	2	189	c.190C>T	c.(190-192)Cag>Tag	p.Q64*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	64						chloride channel complex|plasma membrane	chloride channel activity	p.Q64*(2)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGGGCCACCTGAGCATACACG	0.587000													44	284					0	0	0.870114	0	0
OR2M5	127059	broad.mit.edu	37	1	248308701	248308701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248308701C>A	ENST00000366476.1	+	1	252	c.252C>A	c.(250-252)aaC>aaA	p.N84K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N84K(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGGCCTTCAACTACTTGTCTG	0.493000													357	1042					1.54419e-88	2.62462e-88	0.870114	1	0
MRC2	9902	broad.mit.edu	37	17	60754829	60754829	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:60754829A>T	ENST00000303375.5	+	12	2436	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	678	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K678N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACACCAAACTCCGGTATT	0.662000													5	18					0	0	0.278610	0	0
LPL	4023	broad.mit.edu	37	8	19818481	19818481	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:19818481C>G	ENST00000311322.8	+	8	1679	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	403	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.L403L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GAGAACTACTCATGTTGAAGC	0.408000													59	275					0	0	0.870114	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542719	26542719	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:26542719G>T	ENST00000381655.2	+	35	3421	c.3279G>T	c.(3277-3279)aaG>aaT	p.K1093N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.K1028N	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1053					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K1093N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACAGAGCCAAGCACACCTGCA	0.527000													8	48					0.000442599	0.000474872	0.335167	1	0
LRP1B	53353	broad.mit.edu	37	2	141130585	141130585	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:141130585C>A	ENST00000389484.3	-	69	11731	c.10760G>T	c.(10759-10761)tGt>tTt	p.C3587F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3587	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3587F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGGCTCACAGCTTTTCTC	0.363000										TSP Lung(27;0.18)			32	227					1.04594e-18	1.47983e-18	0.819951	1	0
MYH2	4620	broad.mit.edu	37	17	10426485	10426485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10426485C>A	ENST00000245503.5	-	39	5979	c.5595G>T	c.(5593-5595)aaG>aaT	p.K1865N	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1865N|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1865					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1865N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGAATATTCTTTCTATCTT	0.333000													12	65					3.27435e-08	3.80653e-08	0.457914	1	0
COL6A3	1293	broad.mit.edu	37	2	238289824	238289824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:238289824C>A	ENST00000295550.4	-	5	2083	c.1631G>T	c.(1630-1632)cGg>cTg	p.R544L	COL6A3_ENST00000392004.3_Missense_Mutation_p.R338L|COL6A3_ENST00000472056.1_Missense_Mutation_p.R137L|COL6A3_ENST00000347401.3_Missense_Mutation_p.R343L|COL6A3_ENST00000409809.1_Missense_Mutation_p.R338L|COL6A3_ENST00000353578.4_Missense_Mutation_p.R338L|COL6A3_ENST00000346358.4_Missense_Mutation_p.R544L|COL6A3_ENST00000392003.2_Missense_Mutation_p.R137L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	544	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R338L(2)|p.R544L(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGGCAGCCCGGTAGCCGGC	0.557000													40	159					3.54909e-21	5.22223e-21	0.859065	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249107242	249107242	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.I187I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652000													9	46					0	0	0.411799	0	0
IMMT	10989	broad.mit.edu	37	2	86371798	86371798	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:86371798C>T	ENST00000410111.3	-	15	2257	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	IMMT_ENST00000409051.2_Missense_Mutation_p.G577R|IMMT_ENST00000254636.5_Missense_Mutation_p.G525R|IMMT_ENST00000449247.2_Missense_Mutation_p.G613R|IMMT_ENST00000442664.2_Missense_Mutation_p.G623R	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	624						integral to mitochondrial inner membrane	protein binding	p.G624R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTACACCCCACGGGTCAGG	0.498000													33	239					0	0	0.827153	0	0
ADCY2	108	broad.mit.edu	37	5	7698359	7698359	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:7698359G>T	ENST00000338316.4	+	7	1070		c.e7-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTCTTCCAGGAGAATGAAT	0.388000													28	165					2.87994e-29	4.5496e-29	0.729181	1	0
UGDH	7358	broad.mit.edu	37	4	39511522	39511522	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:39511522T>C	ENST00000316423.6	-	6	1011	c.669A>G	c.(667-669)gcA>gcG	p.A223A	UGDH_ENST00000501493.2_Silent_p.A156A|UGDH_ENST00000507089.1_Silent_p.A126A|UGDH_ENST00000506179.1_Silent_p.A223A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	223	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.A223A(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAAAAGCATTTGCTGCCTTAA	0.363000													5	35					0	0	0.248553	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265006	32265006	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:32265006C>A	ENST00000398664.3	+	1	967	c.332C>A	c.(331-333)cCt>cAt	p.P111H	TP53TG3D_ENST00000569631.1_Intron|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.P111H|RP11-56L13.7_ENST00000562604.1_RNA	NM_001243722.1	NP_001230651.1			TP53 target 3D									p.P111H(4)									GGTCGGTGGCCTCTCACTGCC	0.587000													13	137					4.7546e-09	5.6681e-09	0.500413	1	0
ANK2	287	broad.mit.edu	37	4	114279402	114279402	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:114279402A>G	ENST00000357077.4	+	38	9681	c.9628A>G	c.(9628-9630)Act>Gct	p.T3210A	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T3177A|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3177					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3210A(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCAGCCTCCACTGAAACACC	0.483000													34	179					0	0	0.796494	0	0
NUFIP2	57532	broad.mit.edu	37	17	27614038	27614038	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:27614038G>A	ENST00000225388.4	-	2	1032	c.974C>T	c.(973-975)tCa>tTa	p.S325L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	325						nucleus|polysomal ribosome	protein binding|RNA binding	p.S325L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GGCAACAGCTGAAGCATGCTT	0.443000													19	122					0	0	0.557998	0	0
HYDIN	54768	broad.mit.edu	37	16	70841870	70841870	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:70841870G>T	ENST00000393567.2	-	86	15129	c.14979C>A	c.(14977-14979)ccC>ccA	p.P4993P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4993								p.P4992P(2)|p.P4944P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGCTGGGCTCGAATA	0.557000													25	182					1.38267e-23	2.10051e-23	0.693898	1	0
FAT4	79633	broad.mit.edu	37	4	126328260	126328260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:126328260G>T	ENST00000394329.3	+	3	5546	c.5533G>T	c.(5533-5535)Gtg>Ttg	p.V1845L	FAT4_ENST00000335110.5_Missense_Mutation_p.V143L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1845L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCAGACCCGTGTACTCTTT	0.408000													24	169					8.4185e-14	1.0976e-13	0.760397	1	0
SERPINB8	5271	broad.mit.edu	37	18	61654176	61654176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:61654176G>T	ENST00000397985.2	+	7	1045	c.789G>T	c.(787-789)aaG>aaT	p.K263N	SERPINB8_ENST00000542677.1_Missense_Mutation_p.K81N|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K263N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	263					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.K263N(2)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAAAAGTAAGGTTCAAGTTT	0.378000													27	143					5.60225e-13	7.14148e-13	0.740014	1	0
REG1P	5969	broad.mit.edu	37	2	79364397	79364397	+	RNA	SNP	G	G	A	rs3819317	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:79364397G>A	ENST00000444841.1	-	0	237																											TAGTAGCAGTGGGAGCCTTAG	0.542000													4	117					0	0	0.150653	0	0
DCT	1638	broad.mit.edu	37	13	95121061	95121061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:95121061G>T	ENST00000377028.5	-	2	947	c.534C>A	c.(532-534)aaC>aaA	p.N178K	DCT_ENST00000446125.1_Missense_Mutation_p.N178K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	178					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.N178K(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAACACTGCAGTTGGCAAACT	0.453000													40	213					1.22674e-20	1.77964e-20	0.840704	1	0
SLC8A1	6546	broad.mit.edu	37	2	40657385	40657385	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:40657385G>T	ENST00000406785.1	-	2	225	c.36C>A	c.(34-36)acC>acA	p.T12T	SLC8A1_ENST00000408028.2_Silent_p.T12T|SLC8A1_ENST00000332839.4_Silent_p.T12T|SLC8A1_ENST00000405901.3_Silent_p.T12T|SLC8A1_ENST00000403092.1_Silent_p.T12T|SLC8A1_ENST00000402441.1_Silent_p.T12T|SLC8A1_ENST00000406391.2_Silent_p.T12T|SLC8A1_ENST00000542756.1_Silent_p.T12T|SLC8A1_ENST00000542024.1_Silent_p.T12T|SLC8A1_ENST00000405269.1_Silent_p.T12T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T12T(3)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGAAAAGGTGGGTGAAA	0.408000													8	115					0.00448238	0.00473038	0.307466	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063015	48063015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:48063015G>A	ENST00000316364.5	+	19	2694	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G752E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G677E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G696E|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G709E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G690E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G733E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	752					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.G690E(2)|p.G752E(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCACCCAATGGAGATACTAAA	0.483000													23	139					0	0	0.681144	0	0
LSP1	4046	broad.mit.edu	37	11	1905755	1905755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:1905755G>T	ENST00000406638.2	+	7	1777	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.D221Y|LSP1_ENST00000381775.1_Missense_Mutation_p.D349Y|LSP1_ENST00000405957.2_Missense_Mutation_p.D159Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	221					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.D159Y(2)|p.D221Y(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATCCCAGCCAGACTTGCCCAT	0.562000													9	92					4.36969e-10	5.32007e-10	0.435327	1	0
FAM163A	148753	broad.mit.edu	37	1	179782940	179782940	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:179782940C>A	ENST00000341785.4	+	5	516	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	40						integral to membrane		p.T40T(2)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGAGCGGAACCGAGGTTGCAG	0.627000													8	60					2.17888e-05	2.3977e-05	0.335167	1	0
SERPINA6	866	broad.mit.edu	37	14	94776131	94776131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:94776131C>A	ENST00000341584.3	-	3	972	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	276					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGCGATGACTGTGTTCATC	0.557000													29	130					1.55811e-20	2.24769e-20	0.729181	1	0
MYH6	4624	broad.mit.edu	37	14	23853903	23853903	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:23853903C>T	ENST00000405093.3	-	36	5383	c.5313G>A	c.(5311-5313)ctG>ctA	p.L1771L	MYH6_ENST00000356287.3_Silent_p.L1771L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1771					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1771L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCCTTCTTCAGCTCCTCTG	0.622000													8	78					0	0	0.479597	0	0
C1orf173	127254	broad.mit.edu	37	1	75055428	75055428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:75055428G>T	ENST00000326665.5	-	12	2281	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	C1orf173_ENST00000420661.2_Missense_Mutation_p.S491Y|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	688	Glu-rich.							p.S688Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGTTTCCCGGACTTCTCAGA	0.458000													36	165					9.17885e-22	1.36622e-21	0.779181	1	0
MUC16	94025	broad.mit.edu	37	19	9075971	9075971	+	Silent	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9075971T>G	ENST00000397910.4	-	3	11678	c.11475A>C	c.(11473-11475)ccA>ccC	p.P3825P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3826	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3825P(4)		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						GCACCTGCCCTGGATGTGCAG	0.507000													109	717					0	0	0.870114	0	0
DPP6	1804	broad.mit.edu	37	7	154684104	154684104	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:154684104T>A	ENST00000404039.1	+	26	2907	c.2320T>A	c.(2320-2322)Tcc>Acc	p.S774T	DPP6_ENST00000377770.3_Missense_Mutation_p.S838T|DPP6_ENST00000332007.3_Missense_Mutation_p.S776T|DPP6_ENST00000427557.1_Missense_Mutation_p.S731T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	838					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S838T(2)|p.S774T(2)|p.S776T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTACCGGTCCATCATCAA	0.507000													23	150					0	0	0.706142	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110477365G>T	ENST00000378402.5	+	49	8408	c.8304G>T	c.(8302-8304)ggG>ggT	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			37	266					7.93934e-33	1.28577e-32	0.819951	1	0
OBSCN	84033	broad.mit.edu	37	1	228511036	228511036	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:228511036G>T	ENST00000570156.2	+	67	18326	c.18252G>T	c.(18250-18252)gtG>gtT	p.V6084V	OBSCN_ENST00000366709.4_Silent_p.V2246V|OBSCN_ENST00000284548.11_Silent_p.V5127V|OBSCN_ENST00000366707.4_Silent_p.V2761V|OBSCN_ENST00000422127.1_Silent_p.V5127V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5127	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.V5709V(2)|p.V5839V(2)|p.V5127V(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCCCAGTGTTCCTGACTG	0.542000													6	10					0.00116845	0.00124328	0.217242	1	0
MMP16	4325	broad.mit.edu	37	8	89131071	89131071	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:89131071T>A	ENST00000286614.6	-	5	1010	c.729A>T	c.(727-729)gtA>gtT	p.V243V	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	243					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.V243V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATGGACTGCTACAAGAAATA	0.378000													20	131					0	0	0.624587	0	0
CHRM3	1131	broad.mit.edu	37	1	240072344	240072344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:240072344G>T	ENST00000255380.4	+	5	2372	c.1593G>T	c.(1591-1593)tgG>tgT	p.W531C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGGCTACTGGCTGTGCTACA	0.483000													50	138					3.40343e-31	5.44337e-31	0.870114	1	0
DHRSX	207063	broad.mit.edu	37	X	2209645	2209645	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:2209645C>A	ENST00000334651.5	-	4	339		c.e4-1			NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked								binding|oxidoreductase activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAAAATTCCACTGGAAAAGGA	0.378000													20	102					1.28384e-07	1.47584e-07	0.608945	1	0
ESD	2098	broad.mit.edu	37	13	47354087	47354087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:47354087C>A	ENST00000378720.3	-	8	765	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	ESD_ENST00000378697.1_Missense_Mutation_p.D166Y	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	195						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	p.D195Y(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTACTTTGATCTGTTCCCAAA	0.373000													18	129					1.96292e-10	2.4012e-10	0.592651	1	0
SPTA1	6708	broad.mit.edu	37	1	158583603	158583603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158583603G>T	ENST00000368148.3	-	50	7077	c.6897C>A	c.(6895-6897)tgC>tgA	p.C2299*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.C2296*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2299	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.C2299*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCTCTCAGGCAGGACCGGA	0.438000													24	142					1.17739e-12	1.48617e-12	0.693898	1	0
SPOCK3	50859	broad.mit.edu	37	4	167713350	167713350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:167713350G>T	ENST00000357154.3	-	8	826	c.689C>A	c.(688-690)aCa>aAa	p.T230K	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T179K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T110K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T134K|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T227K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.T227K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.T227K(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAATGTTTTTGTCTTCTTGTT	0.403000													17	82					9.62636e-23	1.45383e-22	0.624587	1	0
TAF1L	138474	broad.mit.edu	37	9	32632534	32632534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:32632534C>T	ENST00000242310.4	-	1	3133	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1015					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1015H(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAGGCGACGAAGGTCTGC	0.448000													119	580					0	0	0.870114	0	0
CNTN3	5067	broad.mit.edu	37	3	74315674	74315674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:74315674C>G	ENST00000263665.6	-	21	2971	c.2944G>C	c.(2944-2946)Gat>Cat	p.D982H	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	982	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D982H(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTCCCATCCCCTCCATCT	0.408000													59	425					0	0	0.870114	0	0
XIRP2	129446	broad.mit.edu	37	2	168102029	168102029	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:168102029A>T	ENST00000409195.1	+	9	4216	c.4127A>T	c.(4126-4128)cAa>cTa	p.Q1376L	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1154L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1376L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1201					actin cytoskeleton organization	cell junction	actin binding	p.Q1376L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGTCACACAAGAAGACATT	0.363000													23	177					0	0	0.639603	0	0
USH2A	7399	broad.mit.edu	37	1	216372980	216372980	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216372980G>A	ENST00000366943.2	-	17	4186	c.3800C>T	c.(3799-3801)gCg>gTg	p.A1267V	USH2A_ENST00000366942.3_Missense_Mutation_p.A1267V|USH2A_ENST00000307340.3_Missense_Mutation_p.A1267V|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1267	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1267V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTAGTTCCGCTGGTGGAGA	0.428000										HNSCC(13;0.011)			17	189					0	0	0.608945	0	0
MUC16	94025	broad.mit.edu	37	19	9057909	9057909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9057909G>C	ENST00000397910.4	-	3	29740	c.29537C>G	c.(29536-29538)aCc>aGc	p.T9846S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T9846S(2)|p.T5479S(2)		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						CACAGCGGAGGTGATACCCAT	0.483000													36	244					0	0	0.870114	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													5	80					0	0	0.278610	0	0
LCE3E	353145	broad.mit.edu	37	1	152538599	152538599	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:152538599C>A	ENST00000368789.1	-	2	141	c.86G>T	c.(85-87)tGt>tTt	p.C29F		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	29					keratinization			p.C29F(2)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGAGGCAGACACTGTACTGG	0.632000													36	101					2.95478e-19	4.21526e-19	0.840704	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110439382	110439382	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110439382A>G	ENST00000378402.5	+	25	3101	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	999					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1001L(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAATCTTCTACAGGTTCCCT	0.458000										HNSCC(38;0.096)			8	39					0	0	0.307466	0	0
PTK2	5747	broad.mit.edu	37	8	141712746	141712746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:141712746G>A	ENST00000522684.1	-	25	2519	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	PTK2_ENST00000430260.2_Nonsense_Mutation_p.Q74*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q764*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q764*|PTK2_ENST00000538769.1_Nonsense_Mutation_p.Q432*|PTK2_ENST00000519465.1_Nonsense_Mutation_p.Q392*|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q764*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q808*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	764	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.Q716*(2)|p.Q786*(2)|p.Q764*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGAGATGCCTGACCTGGATAG	0.478000													15	164					0	0	0.479597	0	0
FGF5	2250	broad.mit.edu	37	4	81207742	81207742	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:81207742C>G	ENST00000312465.7	+	3	949	c.723C>G	c.(721-723)agC>agG	p.S241R	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	241					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.S241R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCCACCTAGCCCTATCAAGC	0.443000													30	188					0	0	0.769981	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605176	142605176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:142605176C>G	ENST00000370503.2	-	1	127	c.44G>C	c.(43-45)aGc>aCc	p.S15T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	15								p.S15T(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCACAGGGGCTCTTCGTCTT	0.468000													92	178					0	0	0.870114	0	0
HBD	3045	broad.mit.edu	37	11	5254211	5254211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:5254211C>A	ENST00000380299.3	-	3	641	c.427G>T	c.(427-429)Gct>Tct	p.A143S	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	143			A -> D (in Fitzroy).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A143S(2)|p.A143P(1)		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)		TACTTGTGAGCCAGGGCATTA	0.493000													44	325					2.69441e-44	4.46181e-44	0.870114	1	0
ITGAD	3681	broad.mit.edu	37	16	31429491	31429491	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31429491C>A	ENST00000389202.2	+	21	2644	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	865					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P865P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAACCACCCCATCTTCCATG	0.572000													11	94					9.31168e-06	1.04706e-05	0.435327	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139092	126139092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:126139092A>T	ENST00000299308.3	+	9	3081	c.3073A>T	c.(3073-3075)Aag>Tag	p.K1025*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.K537*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1025						integral to membrane		p.K1025*(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAGAGAGTCAAGTTCACTTC	0.458000													33	96					0	0	0.859065	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441505	44441505	+	Silent	SNP	G	G	T	rs148642401		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:44441505G>T	ENST00000291547.5	+	8	1024	c.813G>T	c.(811-813)acG>acT	p.T271T	PKNOX1_ENST00000432907.2_Silent_p.T154T	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	271							sequence-specific DNA binding	p.T271T(2)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGCATGCCACGAACGTGATGC	0.527000													7	56					7.48243e-07	8.54424e-07	0.335167	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			18	67					4.72057e-08	5.46313e-08	0.667858	1	0
BPIFB6	128859	broad.mit.edu	37	20	31619551	31619551	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:31619551G>T	ENST00000349552.1	+	1	97		c.e1+1			NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6							extracellular region	lipid binding	p.?(2)									ATCATGAACCGTGGTGAGCTT	0.642000													8	39					0.0477658	0.0495955	0.307466	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267765	103267765	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:103267765G>A	ENST00000217926.5	-	1	494	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	156					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.S156S(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCGTGCCTTCGGACTCGGCGA	0.662000													20	43					0	0	0.624587	0	0
SYNE3	161176	broad.mit.edu	37	14	95910860	95910860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:95910860C>A	ENST00000334258.5	-	9	1752	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	SYNE3_ENST00000554873.1_Missense_Mutation_p.D337Y|SYNE3_ENST00000553340.1_Missense_Mutation_p.D580Y|SYNE3_ENST00000557275.1_Missense_Mutation_p.D580Y	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.D580Y(6)		breast(1)|endometrium(2)|lung(25)	28						CCAGGAAGGTCCCGCTGAAGC	0.602000													6	37					0.0581538	0.0602599	0.335167	1	0
USH2A	7399	broad.mit.edu	37	1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216251649G>C	ENST00000366943.2	-	27	5740	c.5354C>G	c.(5353-5355)aCa>aGa	p.T1785R	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1785R|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1785	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353000										HNSCC(13;0.011)			108	768					0	0	0.870114	0	0
ABCG1	9619	broad.mit.edu	37	21	43706025	43706025	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:43706025G>T	ENST00000398437.1	+	9	1480	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000361802.2_Silent_p.R298R|ABCG1_ENST00000347800.2_Silent_p.R295R|ABCG1_ENST00000340588.4_Silent_p.R406R|ABCG1_ENST00000398457.2_Silent_p.R300R|ABCG1_ENST00000398449.3_Silent_p.R298R|ABCG1_ENST00000343687.3_Silent_p.R309R			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	298	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R298R(2)|p.R300R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTGTACCGGGGAAAAGTCT	0.517000													73	456					1.17954e-47	1.95955e-47	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	114111142	114111142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:114111142T>A	ENST00000297405.5	-	5	1004	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S254C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S214C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S254C|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	254	CUB 2.					integral to membrane|plasma membrane		p.S214C(2)|p.S254C(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACTAGGGCTGGATATGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	172					0	0	0.706142	0	0
CASP4	837	broad.mit.edu	37	11	104819384	104819384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:104819384C>A	ENST00000444739.2	-	6	1711	c.801G>T	c.(799-801)tgG>tgT	p.W267C	CASP4_ENST00000393150.3_Missense_Mutation_p.W211C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	267					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.W267C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGTCTCTGACCCACAGTTCCC	0.498000													46	266					5.39261e-20	7.75753e-20	0.870114	1	0
USPL1	10208	broad.mit.edu	37	13	31205085	31205085	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:31205085G>T	ENST00000255304.4	+	4	684	c.342G>T	c.(340-342)aaG>aaT	p.K114N	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	114					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K114N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCAGCTATAAGGATTCACTTC	0.353000													23	134					2.50493e-22	3.77204e-22	0.681144	1	0
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:168106863G>A	ENST00000409195.1	+	9	9050	c.8961G>A	c.(8959-8961)ctG>ctA	p.L2987L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2765L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343000													21	175					0	0	0.002299	0	0
MUC5AC	4586	broad.mit.edu	37	11	1157860	1157860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:1157860C>A	ENST00000356191.2	+	13	918	c.918C>A	c.(916-918)caC>caA	p.H306Q						mucin 5AC, oligomeric mucus/gel-forming									p.H309Q(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCGTCTGCCACACCCTTGCCG	0.672000													11	90					9.31168e-06	1.17355e-05	0.001855	1	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:120008510C>A	ENST00000341846.5	-	1	651	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000													52	181					4.60868e-44	8.83711e-44	0.003610	1	0
VWA7	80737	broad.mit.edu	37	6	31740879	31740879	+	Silent	SNP	G	G	A	rs146780305	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:31740879G>A	ENST00000375686.3	-	7	1176	c.939C>T	c.(937-939)gcC>gcT	p.A313A	VWA7_ENST00000375688.4_Silent_p.A313A|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Silent_p.A313A	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	313						extracellular region		p.A313A(2)									TCAGGCTGGAGGCTGGGGTGA	0.632000													8	34					0	0	0.004482	0	0
OR4M2	390538	broad.mit.edu	37	15	22368980	22368980	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:22368980C>A	ENST00000332663.2	+	1	503	c.405C>A	c.(403-405)atC>atA	p.I135I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCTACCATCATGAATCAAC	0.502000													40	645					1.62957e-23	2.99614e-23	0.008740	1	0
ST3GAL4	6484	broad.mit.edu	37	11	126277168	126277168	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:126277168C>G	ENST00000526727.1	+	4	578	c.204C>G	c.(202-204)atC>atG	p.I68M	ST3GAL4_ENST00000227495.6_Missense_Mutation_p.I64M|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.I67M|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.I74M|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.I68M|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.I64M|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.I68M|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.I68M|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.I57M|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.I63M			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	68					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ATCAGCCCATCTTCCTGCGGC	0.547000													7	325					0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57327996	57327996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:57327996C>A	ENST00000326441.9	-	10	2177	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G605V|PEG3_ENST00000598410.1_Missense_Mutation_p.G481V|PEG3_ENST00000593695.1_Missense_Mutation_p.G479V|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGTTTCCCCGCGCtcacg	0.453000													13	37					0.00010058	0.000122509	0.001368	1	0
CSDE1	7812	broad.mit.edu	37	1	115267878	115267878	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:115267878T>C	ENST00000438362.2	-	15	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	CSDE1_ENST00000339438.6_Missense_Mutation_p.K542E|CSDE1_ENST00000530886.1_Missense_Mutation_p.K443E|CSDE1_ENST00000534699.1_Missense_Mutation_p.K573E|CSDE1_ENST00000358528.4_Missense_Mutation_p.K573E|CSDE1_ENST00000261443.5_Missense_Mutation_p.K542E|CSDE1_ENST00000369530.1_Missense_Mutation_p.K588E	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	573	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.K573E(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GCACTGACTTTGTTGCCTTTG	0.413000													11	198					0	0	0.001368	0	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:93015490G>T	ENST00000333334.2	+	1	607	c.112G>T	c.(112-114)Gga>Tga	p.G38*	C15orf32_ENST00000556865.1_Nonsense_Mutation_p.G38*	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38								p.G38*(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAAC	0.542000													22	156					9.22233e-05	0.000113042	0.004656	1	0
MMD	23531	broad.mit.edu	37	17	53491543	53491543	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:53491543T>C	ENST00000262065.3	-	2	373	c.77A>G	c.(76-78)tAt>tGt	p.Y26C		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	26					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	p.Y26C(2)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGCATGTTCATAGCAAGTTGG	0.453000													7	122					0	0	0.003080	0	0
GLI1	2735	broad.mit.edu	37	12	57864243	57864243	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:57864243G>A	ENST00000228682.2	+	12	1811	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	GLI1_ENST00000546141.1_Missense_Mutation_p.G533R|GLI1_ENST00000543426.1_Missense_Mutation_p.G446R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	574					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.G574R(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCAGAGAATGGAGCATCCTC	0.632000													41	120					0	0	0.007835	0	0
MMRN1	22915	broad.mit.edu	37	4	90857222	90857222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:90857222C>G	ENST00000394980.1	+	7	2710	c.2391C>G	c.(2389-2391)aaC>aaG	p.N797K	MMRN1_ENST00000508372.1_Missense_Mutation_p.N539K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.N797K			Q13201	MMRN1_HUMAN	multimerin 1	797					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.N797K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAGATATAACTTTGTTTTGC	0.373000													12	94					0	0	0.000978	0	0
SALL2	6297	broad.mit.edu	37	14	21992890	21992890	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:21992890G>A	ENST00000327430.3	-	2	1266	c.972C>T	c.(970-972)acC>acT	p.T324T	SALL2_ENST00000450879.2_Silent_p.T187T|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	324							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T324T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTAGTCCCGTGGTGCTTGGGA	0.627000													19	61					0	0	0.001523	0	0
MYH13	8735	broad.mit.edu	37	17	10204269	10204269	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10204269C>T	ENST00000418404.3	-	40	5979	c.5816G>A	c.(5815-5817)tGa>tAa	p.*1939*	MYH13_ENST00000570743.1_Silent_p.*1939*|MYH13_ENST00000252172.4_Silent_p.*1939*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	0					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.*1939*(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTGAGCCTCATTCTTCCAT	0.438000													13	134					0	0	0.004990	0	0
NPHS2	7827	broad.mit.edu	37	1	179520370	179520370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:179520370G>T	ENST00000367615.4	-	8	1158	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P296T|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding	p.P364T(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGGACTTGGGAAGGGGAGG	0.488000													22	139					4.59853e-10	6.79833e-10	0.005443	1	0
FAM129C	199786	broad.mit.edu	37	19	17664237	17664237	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:17664237T>C	ENST00000335393.4	+	16	2097	c.1959T>C	c.(1957-1959)tcT>tcC	p.S653S	FAM129C_ENST00000449408.2_Silent_p.S379S|FAM129C_ENST00000601861.1_Silent_p.S622S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	653								p.S653S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTCTGCTGTCTTGCAGCTGCT	0.527000													24	162					0	0	0.002299	0	0
USH2A	7399	broad.mit.edu	37	1	216062334	216062334	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216062334A>T	ENST00000366943.2	-	41	8043	c.7657T>A	c.(7657-7659)Tgg>Agg	p.W2553R	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2553R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2553	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W2553R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGCTGCCAGGTGACCAAC	0.408000										HNSCC(13;0.011)			25	175					0	0	0.003954	0	0
FAM194A	131831	broad.mit.edu	37	3	150377865	150377865	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:150377865C>G	ENST00000295910.6	-	14	1858	c.1806G>C	c.(1804-1806)aaG>aaC	p.K602N	FAM194A_ENST00000491361.1_Missense_Mutation_p.K456N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	602								p.K602N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGACGGATCTTTATTAAAC	0.423000													60	210					0	0	0.003610	0	0
ANKRD26	22852	broad.mit.edu	37	10	27355419	27355419	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:27355419A>G	ENST00000376087.4	-	11	1431	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S	ANKRD26_ENST00000436985.2_Silent_p.S471S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	422						centrosome		p.S422S(2)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAAGTACCTCAGAATCCCAAG	0.318000													20	72					0	0	0.001882	0	0
C19orf40	91442	broad.mit.edu	37	19	33464996	33464996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:33464996G>C	ENST00000588258.1	+	4	384	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590281.1_Missense_Mutation_p.E92Q|C19orf40_ENST00000590179.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	92					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	p.E92Q(2)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418000								Direct reversal of damage					12	79					0	0	0.001368	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667826	60667826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:60667826C>A	ENST00000400324.4	-	4	651	c.431G>T	c.(430-432)cGg>cTg	p.R144L	DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R133L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R144L|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R74L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R144L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCCTTTTCCCGCAATGGTGC	0.333000													6	73					8.12818e-05	9.98409e-05	0.001984	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777518	43777518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:43777518C>T	ENST00000389420.3	-	31	4639	c.4640G>A	c.(4639-4641)tGt>tAt	p.C1547Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1547	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.C1547Y(2)|p.R1547K(2)		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)		TTTTCTCTCACATGATGTTGA	0.348000													30	109					0	0	0.001786	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219383918	219383918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:219383918A>T	ENST00000366928.5	+	4	453	c.406A>T	c.(406-408)Aga>Tga	p.R136*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.R120*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	136						cytoplasm	lysophospholipase activity	p.R136*(2)		large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTTAGCATATAGAAATCATCA	0.303000													16	91					0	0	0.003330	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703256	156703256	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:156703256C>T	ENST00000368216.4	+	5	1210	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	RRNAD1_ENST00000368218.4_Missense_Mutation_p.R194C|RRNAD1_ENST00000476229.1_Missense_Mutation_p.R71C	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	194						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GAGAGCCCAGCGCCTGGACCA	0.617000													7	284					0	0	0.003080	0	0
C12orf36	283422	broad.mit.edu	37	12	13529158	13529158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:13529158C>A	ENST00000532841.1	-	2	305	c.182G>T	c.(181-183)aGg>aTg	p.R61M	C12orf36_ENST00000539026.1_Splice_Site_p.R61_splice|C12orf36_ENST00000527705.2_Splice_Site_p.S61_splice|C12orf36_ENST00000318426.2_Splice_Site_p.S61_splice					chromosome 12 open reading frame 36									p.S61I(2)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcccactcacctccacagcct	0.488000													10	184					0.00621372	0.00723481	0.006214	1	0
LRRC15	131578	broad.mit.edu	37	3	194081543	194081543	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:194081543G>A	ENST00000347624.3	-	2	315	c.230C>T	c.(229-231)tCa>tTa	p.S77L	LRRC15_ENST00000439944.2_Missense_Mutation_p.S83L|LRRC15_ENST00000428839.1_Missense_Mutation_p.S83L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	77						integral to membrane		p.S77L(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GATGAGGGCTGAGATATTGAG	0.587000													35	108					0	0	0.003755	0	0
ASAP1	50807	broad.mit.edu	37	8	131181264	131181264	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:131181264C>G	ENST00000357668.1	-	9	823	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.E266Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	266					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGTTTTTCAATGTACTGT	0.274000													4	116					0	0	0.000248	0	0
OR6F1	343169	broad.mit.edu	37	1	247875336	247875336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:247875336C>A	ENST00000302084.2	-	1	769	c.722G>T	c.(721-723)tGc>tTc	p.C241F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGCGAGGAGCACGTGGAGAA	0.527000													45	214					9.85913e-13	1.54815e-12	0.002222	1	0
PEX12	5193	broad.mit.edu	37	17	33904575	33904575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:33904575G>T	ENST00000225873.4	-	2	769	c.162C>A	c.(160-162)ttC>ttA	p.F54L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	54					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.F54L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCCACAAGAAGCCATAGT	0.373000													43	210					9.39024e-22	1.69433e-21	0.002222	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863748	64863748	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:64863748G>A	ENST00000313349.3	-	2	555	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	86					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.F86F(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGAGGGGGTGAACATGGGCC	0.632000													9	74					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179584084	179584084	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:179584084T>C	ENST00000589042.1	-	83	24257	c.24033A>G	c.(24031-24033)tcA>tcG	p.S8011S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.S7694S|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S6767S|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7694	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6767S(2)		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)			AAATCGGGGCTGAGCCAGAGA	0.498000													26	238					0	0	0.006320	0	0
BAI3	577	broad.mit.edu	37	6	69349249	69349249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:69349249G>T	ENST00000370598.1	+	3	1503	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	228					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G228C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGACAGAGGGCTGCCTGAC	0.537000													9	66					1.12685e-05	1.4171e-05	0.004482	1	0
HCST	10870	broad.mit.edu	37	19	36393498	36393498	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:36393498G>T	ENST00000246551.4	+	1	117	c.3G>T	c.(1-3)atG>atT	p.M1I	HCST_ENST00000437550.2_Start_Codon_SNP_p.M1I			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	1					regulation of immune response	integral to membrane|plasma membrane		p.M1I(2)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTCCACCATGATCCATCTGG	0.567000													76	612					2.22156e-40	4.24581e-40	0.003610	1	0
GDF5	8200	broad.mit.edu	37	20	34021748	34021748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:34021748G>T	ENST00000374372.1	-	4	1968	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K	GDF5_ENST00000374369.3_Missense_Mutation_p.Q489K|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	489					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.Q489K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCTCATACTGCTTATACACC	0.592000													18	115					6.94344e-10	1.01106e-09	0.006122	1	0
OR2T6	254879	broad.mit.edu	37	1	248551725	248551725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248551725G>T	ENST00000355728.2	+	1	816	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAAAGATAAGGTCTTCTCTG	0.473000													13	130					0.00010058	0.000122509	0.001368	1	0
TMEM47	83604	broad.mit.edu	37	X	34648523	34648523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:34648523C>A	ENST00000275954.3	-	3	711	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	151						integral to membrane		p.W151C(4)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCCATAACCCCAGTTGAACT	0.423000													12	70					3.07112e-06	3.91298e-06	0.000978	1	0
DSC3	1825	broad.mit.edu	37	18	28604459	28604459	+	Splice_Site	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:28604459A>G	ENST00000434452.1	-	6	785	c.630_splice	c.e6-1	p.L211_splice	DSC3_ENST00000360428.4_Splice_Site_p.L211_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	211	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L211L(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAGCAATCAACTGCAAAATA	0.408000													6	76					0	0	0.001984	0	0
NID2	22795	broad.mit.edu	37	14	52507529	52507529	+	Silent	SNP	C	C	G	rs146481572		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:52507529C>G	ENST00000216286.5	-	8	1865	c.1866G>C	c.(1864-1866)ccG>ccC	p.P622P	NID2_ENST00000541773.1_Silent_p.P569P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	622	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.P622P(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTCCTCTCCCGGGTAGAATG	0.478000													57	146					0	0	0.003610	0	0
IL9R	3581	broad.mit.edu	37	X	155234092	155234092	+	Silent	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:155234092G>C	ENST00000424344.3	+	6	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L	IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000244174.5_Silent_p.L147L			Q01113	IL9R_HUMAN	interleukin 9 receptor	147					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTTAAGCTGGACCCGCCCT	0.547000													6	88					0	0	0.001984	0	0
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248737350C>G	ENST00000328782.2	-	1	730	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562000													27	257					0	0	0.001786	0	0
RUFY2	55680	broad.mit.edu	37	10	70156631	70156631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:70156631G>T	ENST00000388768.2	-	4	735	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.L102M|RUFY2_ENST00000454950.2_Missense_Mutation_p.L44M|RUFY2_ENST00000342616.4_Missense_Mutation_p.L102M	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	151	RUN.					nucleus	metal ion binding	p.L137M(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCTCGACCCAGAGGGGTCCTA	0.433000													8	74					5.18039e-06	6.54306e-06	0.003080	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921566	178921566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:178921566G>A	ENST00000263967.3	+	5	1205	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	350					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D350N(4)|p.D350H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAATATTCGAGACATTGATAA	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	153					0	0	0.006122	0	0
GALNT7	51809	broad.mit.edu	37	4	174219404	174219404	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:174219404C>T	ENST00000265000.4	+	6	1187	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	368					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T368T(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGCCTCTGACCCCTCAAGAGA	0.443000													9	48					0	0	0.004482	0	0
CSNK1D	1453	broad.mit.edu	37	17	80223565	80223565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:80223565C>T	ENST00000314028.6	-	2	533	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CSNK1D_ENST00000392334.2_Missense_Mutation_p.G62R|CSNK1D_ENST00000398519.5_Missense_Mutation_p.G62R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	62	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G62R(6)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GACCTACCTCCTCCCTGCATC	0.458000													14	182					0	0	0.002450	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213681	1213681	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:1213681C>A	ENST00000304460.10	+	5	823	c.767C>A	c.(766-768)aCg>aAg	p.T256K		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	256					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T256K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCTCTTCACGCCCAACGTA	0.652000													12	39					3.27435e-08	4.47623e-08	0.002450	1	0
PLA2G6	8398	broad.mit.edu	37	22	38508177	38508177	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:38508177G>A	ENST00000332509.3	-	17	2595	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	PLA2G6_ENST00000335539.3_Silent_p.L750L|PLA2G6_ENST00000402064.1_Silent_p.L750L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	804					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		p.L804L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTCAGGGTGAGAGCAGCAGCT	0.637000													3	11					0	0	0.004672	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090685	238090685	+	RNA	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:238090685G>C	ENST00000450451.1	+	0	2191					NR_027247.2																						GGCTGGCAGGGACCTGACAGG	0.622000													4	22					0	0	0.000602	0	0
PKHD1	5314	broad.mit.edu	37	6	51768419	51768419	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:51768419G>C	ENST00000371117.3	-	43	7247	c.6972C>G	c.(6970-6972)atC>atG	p.I2324M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I2324M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2324					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I2324M(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGACTGCAGATATAGATGC	0.453000													29	176					0	0	0.007291	0	0
GPC6	10082	broad.mit.edu	37	13	94482465	94482465	+	Silent	SNP	G	G	T	rs149069159		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:94482465G>T	ENST00000377047.4	+	3	993	c.378G>T	c.(376-378)cgG>cgT	p.R126R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R126R(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTTTGTACGGACCTATGGCA	0.398000													11	91					0.000673444	0.000803431	0.008291	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111896616	111896616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:111896616G>T	ENST00000375741.2	+	9	1238	c.988G>T	c.(988-990)Gta>Tta	p.V330L	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V152L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V74L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V227L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V280L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V237L|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V309L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V152L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V152L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V152L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	330	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.V309L(2)|p.V152L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAATGCTCGTACAGTCTTT	0.313000													9	68					0.00448238	0.00523997	0.004482	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952637	119952637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:119952637C>T	ENST00000307142.4	+	4	2903	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P903S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P903S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	903						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.P903S(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTCAGTCTCCCACTCCATC	0.567000													10	118					0	0	0.006214	0	0
C1orf105	92346	broad.mit.edu	37	1	172437600	172437600	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:172437600T>A	ENST00000367727.4	+	7	616	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.Y130N	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	140								p.Y140N(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AAGCATTCACTACAGACTGCC	0.443000													41	383					0	0	0.002222	0	0
C1orf105	92346	broad.mit.edu	37	1	172437623	172437623	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:172437623C>A	ENST00000367727.4	+	7	639	c.441C>A	c.(439-441)ccC>ccA	p.P147P	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.P137P	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	147								p.P147P(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTCTGGGCCCCAGGACAGCTG	0.443000													52	437					2.31418e-15	3.89722e-15	0.003610	1	0
SLAIN2	57606	broad.mit.edu	37	4	48381849	48381849	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:48381849C>G	ENST00000264313.6	+	4	1264	c.846C>G	c.(844-846)gcC>gcG	p.A282A	SLAIN2_ENST00000512093.1_Silent_p.A89A	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	282						centrosome		p.A282A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGATTCTAGCCCGGATGCAGG	0.308000													24	181					0	0	0.005443	0	0
MGAM	8972	broad.mit.edu	37	7	141708386	141708386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:141708386G>A	ENST00000475668.2	+	3	262	c.208G>A	c.(208-210)Gct>Act	p.A70T	MGAM_ENST00000549489.2_Missense_Mutation_p.A70T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	70	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A70T(8)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCACACATGCTAGGACAAC	0.498000													7	51					0	0	0.003080	0	0
ZNF479	90827	broad.mit.edu	37	7	57188289	57188289	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:57188289A>T	ENST00000331162.4	-	5	1103	c.833T>A	c.(832-834)tTt>tAt	p.F278Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F278Y(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGAGCGCCTAAAGGCTTGGCC	0.458000													15	76					0	0	0.004007	0	0
NFATC2	4773	broad.mit.edu	37	20	50139740	50139740	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:50139740G>A	ENST00000371564.3	-	2	1259	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	NFATC2_ENST00000414705.1_Missense_Mutation_p.P327L|NFATC2_ENST00000396009.3_Missense_Mutation_p.P347L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	347					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCCACGGCCGGGTAGATGTG	0.677000													4	202					0	0	0.000248	0	0
REST	5978	broad.mit.edu	37	4	57796165	57796165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:57796165G>C	ENST00000309042.7	+	4	1455	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	381					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.E381Q(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAACATGTAGAGCTACATGT	0.428000													47	256					0	0	0.003610	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952305	95952305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:95952305G>C	ENST00000342697.4	-	3	663	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	TP53INP1_ENST00000378776.4_Missense_Mutation_p.Q86E|TP53INP1_ENST00000448464.2_Missense_Mutation_p.Q86E|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	86					apoptosis	PML body		p.Q86E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GACTCAAACTGGAGAAAGCAG	0.473000													9	89					0	0	0.006214	0	0
GRM7	2917	broad.mit.edu	37	3	7348280	7348280	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:7348280A>G	ENST00000486284.1	+	4	1248	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	GRM7_ENST00000403881.1_Missense_Mutation_p.Q325R|GRM7_ENST00000389336.4_Missense_Mutation_p.Q325R|GRM7_ENST00000402647.2_Missense_Mutation_p.Q325R|GRM7_ENST00000357716.4_Missense_Mutation_p.Q325R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	325					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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.Q325R(2)		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)	CCACTGCACCAGCATGAAGAT	0.517000													28	143					0	0	0.005443	0	0
CDH6	1004	broad.mit.edu	37	5	31322949	31322949	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:31322949T>A	ENST00000265071.2	+	12	2172	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L636Q(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTGCAGCTCTGAGGCGGCAG	0.448000													52	163					0	0	0.003610	0	0
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408000													71	255					0	0	0.003610	0	0
MAT1A	4143	broad.mit.edu	37	10	82043734	82043734	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:82043734A>T	ENST00000372213.3	-	3	490	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	77					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.V77E(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGGTAGTCCACCATGGCCAT	0.592000													11	99					0	0	0.000978	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862065	128862065	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:128862065G>C	ENST00000274487.4	+	4	1129	c.984G>C	c.(982-984)gaG>gaC	p.E328D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	328	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E328D(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAACATAGAGACTGTAGTGG	0.393000													19	115					0	0	0.008871	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179864	90179864	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:90179864C>T	ENST00000370454.4	+	3	1990	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	579						endoplasmic reticulum membrane|integral to membrane		p.L579L(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGCACCAAGCTGGTGATGCT	0.463000													11	105					0	0	0.008291	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005823	118005823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:118005823C>T	ENST00000310754.4	-	1	913	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	243	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D243N(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TACTTTTCATCACTAAAGTAA	0.388000													16	99					0	0	0.006122	0	0
YIPF1	54432	broad.mit.edu	37	1	54348884	54348884	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:54348884G>C	ENST00000371399.1	-	0	132				YIPF1_ENST00000539954.1_Missense_Mutation_p.P58A|YIPF1_ENST00000072644.1_Missense_Mutation_p.P33A|YIPF1_ENST00000469457.1_Intron			Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral to membrane|transport vesicle		p.P33A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTTCACCAGGATCCTCAATG	0.473000													10	173					0	0	0.006214	0	0
FLVCR2	55640	broad.mit.edu	37	14	76108196	76108196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:76108196G>C	ENST00000238667.4	+	9	1820	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000539311.1_Missense_Mutation_p.K283N|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.K203N	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	488					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.K488N(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATTCATTAAGGCAGATCTCC	0.433000													9	123					0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	30936620	30936620	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:30936620C>A	ENST00000355537.3	+	2	2298	c.2151C>A	c.(2149-2151)ccC>ccA	p.P717P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P717P(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCGCACCCCTCCTCGCCAT	0.682000													10	44					6.40141e-05	7.91323e-05	0.000978	1	0
FHOD3	80206	broad.mit.edu	37	18	34324149	34324149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:34324149C>A	ENST00000257209.4	+	20	3631	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S1345*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S1132*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S1153*|FHOD3_ENST00000592128.1_Nonsense_Mutation_p.S149*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1153	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S1170*(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCACCAGGTCAGCCAAGGTA	0.562000													14	128					1.49906e-05	1.87705e-05	0.002450	1	0
ATP11C	286410	broad.mit.edu	37	X	138825775	138825775	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:138825775T>C	ENST00000370557.1	-	26	3991	c.2964A>G	c.(2962-2964)ggA>ggG	p.G988G	ATP11C_ENST00000370543.1_Silent_p.G994G|ATP11C_ENST00000359686.2_Silent_p.G994G|ATP11C_ENST00000361648.2_Silent_p.G994G|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Silent_p.G994G			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	994					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G994G(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGTCCAGTTTCCGTATACCT	0.264000													8	12					0	0	0.006214	0	0
SCD5	79966	broad.mit.edu	37	4	83626448	83626448	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:83626448G>A	ENST00000319540.4	-	2	670	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCD5_ENST00000273908.4_Silent_p.S117S|SCD5_ENST00000282709.4_Silent_p.S117S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	117					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.S117S(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAAAGCCATGGAGTTGGCGA	0.607000													9	102					0	0	0.006214	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303752	46303752	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:46303752A>G	ENST00000221538.3	-	5	2010	c.1868T>C	c.(1867-1869)gTt>gCt	p.V623A	RSPH6A_ENST00000597055.1_Missense_Mutation_p.V623A|RSPH6A_ENST00000600188.1_Missense_Mutation_p.V359A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	623	Glu-rich.					intracellular		p.V623A(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGAGCGCACAACGGCCACTGA	0.637000													8	54					0	0	0.008291	0	0
LRRC6	23639	broad.mit.edu	37	8	133637568	133637568	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:133637568C>A	ENST00000519595.1	-	6	884	c.786G>T	c.(784-786)ttG>ttT	p.L262F	LRRC6_ENST00000518642.1_Missense_Mutation_p.L262F|LRRC6_ENST00000250173.1_Missense_Mutation_p.L262F|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	262						cytoplasm		p.L262F(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAAGAGTTTCCAATCTTGATT	0.383000													11	69					2.31682e-05	2.88239e-05	0.003163	1	0
TFDP3	51270	broad.mit.edu	37	X	132351141	132351141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:132351141G>T	ENST00000310125.4	-	1	1235	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P383T(2)|p.P323T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCGACTGCTGGGGTCTCCACC	0.562000													28	89					7.41945e-09	1.03623e-08	0.005443	1	0
PASD1	139135	broad.mit.edu	37	X	150841089	150841089	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:150841089C>G	ENST00000370357.4	+	14	2117	c.1872C>G	c.(1870-1872)ttC>ttG	p.F624L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	624						nucleus	signal transducer activity	p.F624L(4)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCTTCTATCAAGATG	0.473000													31	72					0	0	0.002836	0	0
DNAH9	1770	broad.mit.edu	37	17	11520764	11520764	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:11520764T>C	ENST00000262442.3	+	5	1009	c.941T>C	c.(940-942)aTa>aCa	p.I314T	DNAH9_ENST00000454412.2_Missense_Mutation_p.I314T|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	314	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I314T(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCACCTGATACCGCTCCAG	0.587000													14	71					0	0	0.003163	0	0
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:107973450A>C	ENST00000370068.1	+	6	2012	c.1166A>C	c.(1165-1167)cAc>cCc	p.H389P	NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.H389P|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.H389P			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453000													6	57					0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:10920118C>G	ENST00000298232.7	-	18	1449	c.1082G>C	c.(1081-1083)aGc>aCc	p.S361T	TPTE_ENST00000361285.4_Missense_Mutation_p.S379T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S341T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													6	136					0	0	0.001984	0	0
CCDC57	284001	broad.mit.edu	37	17	80151915	80151915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:80151915C>A	ENST00000389641.4	-	5	755	c.719G>T	c.(718-720)aGg>aTg	p.R240M	CCDC57_ENST00000392343.3_Missense_Mutation_p.R240M|CCDC57_ENST00000392347.1_Missense_Mutation_p.R240M			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	240								p.R240M(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGGAGCTTCCTCTCCAGCTC	0.652000													24	76					1.10923e-09	1.59127e-09	0.002780	1	0
DNAI2	64446	broad.mit.edu	37	17	72297289	72297289	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:72297289G>A	ENST00000579490.1	+	7	1275	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	DNAI2_ENST00000446837.2_Silent_p.L323L|DNAI2_ENST00000307504.5_Silent_p.L180L|DNAI2_ENST00000311014.6_Silent_p.L323L|DNAI2_ENST00000582036.1_Silent_p.L323L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	323					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.L323L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCATCTCCCTGGAGTTCGAAT	0.527000									Kartagener syndrome				89	268					0	0	0.003610	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111929984	111929984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:111929984G>C	ENST00000375741.2	+	14	1783	c.1533G>C	c.(1531-1533)ttG>ttC	p.L511F	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L333F|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L255F|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L408F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L461F|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L418F|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.L167F|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L490F|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L333F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L333F|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L333F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	511	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L333F(2)|p.L490F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTAATGTTGTCTGCCAGTC	0.294000													19	90					0	0	0.007413	0	0
MUC5B	727897	broad.mit.edu	37	11	1271072	1271072	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:1271072C>A	ENST00000447027.1	+	31	13029	c.12971C>A	c.(12970-12972)aCc>aAc	p.T4324N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4321N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4321	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4321N(2)|p.T4276N(2)		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)		TCCACAGCTACCAGCGTTACA	0.607000													25	177					9.93527e-08	1.34242e-07	0.002836	1	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:127727777T>A	ENST00000508053.1	-	17	2511	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_ENST00000262464.4_Missense_Mutation_p.T513S|FBN2_ENST00000508989.1_Missense_Mutation_p.T480S			P35556	FBN2_HUMAN	fibrillin 2	513	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T513S(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGAGACAGTTGGTATACAG	0.348000													38	86					0	0	0.006999	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239224	160239224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:160239224G>A	ENST00000392783.2	-	25	4346	c.3851C>T	c.(3850-3852)cCc>cTc	p.P1284L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1248L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1250L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1184L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P1284L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCTGGAGTGGGTGTGCCCAA	0.468000													10	67					0	0	0.006214	0	0
ITGAX	3687	broad.mit.edu	37	16	31391186	31391186	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31391186G>T	ENST00000268296.4	+	25	3097		c.e25+1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCAGGTACCCAAGGA	0.587000													10	55					7.48243e-07	9.7912e-07	0.006214	1	0
PPP6R3	55291	broad.mit.edu	37	11	68377095	68377095	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:68377095C>T	ENST00000393801.3	+	23	2682	c.2468_splice	c.e23+1	p.R823_splice	PPP6R3_ENST00000265637.4_Intron|PPP6R3_ENST00000393800.2_Intron|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000527403.2_Intron|PPP6R3_ENST00000265636.5_Intron|PPP6R3_ENST00000393799.2_Intron|PPP6R3_ENST00000524845.1_Intron|PPP6R3_ENST00000524904.1_Intron|PPP6R3_ENST00000529710.1_Intron	NM_001164160.1	NP_001157632.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	817					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.R823C(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAAATCCTATCGGTATGTACA	0.423000													3	11					0	0	0.004672	0	0
ANGEL1	23357	broad.mit.edu	37	14	77273815	77273815	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:77273815G>A	ENST00000251089.2	-	4	1019	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	303								p.H303Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCAGTAATGATCTTCCTGG	0.522000													22	46					0	0	0.003330	0	0
CCDC178	374864	broad.mit.edu	37	18	30791950	30791950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:30791950C>G	ENST00000383096.3	-	20	2330	c.2148G>C	c.(2146-2148)gaG>gaC	p.E716D	CCDC178_ENST00000300227.8_Missense_Mutation_p.E678D|CCDC178_ENST00000403303.1_Missense_Mutation_p.E716D|CCDC178_ENST00000579947.1_Missense_Mutation_p.E716D|CCDC178_ENST00000406524.2_Missense_Mutation_p.E716D|CCDC178_ENST00000583930.1_Missense_Mutation_p.E716D|CCDC178_ENST00000402325.1_Missense_Mutation_p.E716D|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178									p.E716D(2)|p.E678D(2)									AGTCTTTTTTCTCTTGCATAT	0.343000													13	77					0	0	0.001855	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554394	140554394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:140554394G>C	ENST00000231137.3	+	1	2152	c.1978G>C	c.(1978-1980)Gtg>Ctg	p.V660L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V660L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.711000													18	172					0	0	0.001786	0	0
ATR	545	broad.mit.edu	37	3	142188251	142188251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:142188251C>G	ENST00000350721.4	-	38	6601	c.6480G>C	c.(6478-6480)ttG>ttC	p.L2160F	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.L2096F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2160	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L2160F(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTATTTCCATCAAGACAACAA	0.348000								Other conserved DNA damage response genes					12	141					0	0	0.001368	0	0
PTPRD	5789	broad.mit.edu	37	9	8465591	8465591	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:8465591C>A	ENST00000381196.4	-	29	4132	c.3589G>T	c.(3589-3591)Gat>Tat	p.D1197Y	PTPRD_ENST00000397617.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1197Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D783Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D783Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1175Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D786Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1184Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.D786Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1197Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1197					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1197Y(4)|p.D668Y(2)|p.D786Y(2)		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)		GGAAGGACATCAAAGTGAGCG	0.423000										TSP Lung(15;0.13)			34	134					9.65021e-13	1.51945e-12	0.002096	1	0
OR4C3	256144	broad.mit.edu	37	11	48347153	48347153	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:48347153G>A	ENST00000319856.4	+	1	682	c.661G>A	c.(661-663)Ggt>Agt	p.G221S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G221S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTATGTCATTGGTCTGCTGGT	0.507000													20	95					0	0	0.007413	0	0
KNDC1	85442	broad.mit.edu	37	10	135024994	135024994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:135024994G>T	ENST00000304613.3	+	22	3998	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	KNDC1_ENST00000368572.2_Missense_Mutation_p.W1328L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1326	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.W1326L(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGCAGGCCTGGGTGGAGGAC	0.647000													24	104					6.32553e-13	1.0014e-12	0.004656	1	0
IFI16	3428	broad.mit.edu	37	1	158988299	158988299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158988299C>A	ENST00000295809.7	+	5	1085	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	IFI16_ENST00000359709.3_Missense_Mutation_p.S221Y|IFI16_ENST00000340979.6_Missense_Mutation_p.S277Y|IFI16_ENST00000448393.2_Missense_Mutation_p.S277Y|IFI16_ENST00000430894.2_Missense_Mutation_p.S225Y|IFI16_ENST00000368132.3_Missense_Mutation_p.S277Y|IFI16_ENST00000368131.4_Missense_Mutation_p.S277Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	277	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.S277Y(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AATGAAGAATCTACTGTATCT	0.343000													16	99					6.94344e-10	1.01106e-09	0.006122	1	0
SYDE2	84144	broad.mit.edu	37	1	85648858	85648858	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:85648858A>G	ENST00000341460.5	-	3	1516	c.1467T>C	c.(1465-1467)aaT>aaC	p.N489N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	489					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.N489N(2)|p.N411N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCAGTACTATTTGTAGCAG	0.318000													13	119					0	0	0.001368	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543774	54543774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:54543774C>G	ENST00000566473.2	+	14	1624	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.H542D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	542								p.H542D(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAAGATCGACATGGAAACAT	0.403000													17	170					0	0	0.006122	0	0
MACROD2	140733	broad.mit.edu	37	20	14066278	14066278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:14066278C>T	ENST00000217246.4	+	3	570	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.Q59*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	59	Macro.							p.Q59*(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAAATACTCAGGAAACATC	0.318000													8	30					0	0	0.003080	0	0
COL4A6	1288	broad.mit.edu	37	X	107447623	107447623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:107447623C>G	ENST00000334504.7	-	12	940	c.707G>C	c.(706-708)gGc>gCc	p.G236A	COL4A6_ENST00000372216.4_Missense_Mutation_p.G237A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G236A|COL4A6_ENST00000394872.2_Missense_Mutation_p.G234A|COL4A6_ENST00000545689.1_Missense_Mutation_p.G236A	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	237	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G236A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGCTGGGCCAGGGAGGCC	0.478000									Alport syndrome with Diffuse Leiomyomatosis				8	45					0	0	0.004482	0	0
CELSR2	1952	broad.mit.edu	37	1	109812142	109812142	+	Silent	SNP	G	G	A	rs150014940		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:109812142G>A	ENST00000271332.3	+	21	6970	c.6909G>A	c.(6907-6909)acG>acA	p.T2303T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2303					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.T2303T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCCGTCACGGTGCAGTTCC	0.607000													24	105					0	0	0.002299	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31384649G>T	ENST00000268296.4	+	20	2567	c.2446G>T	c.(2446-2448)Gga>Tga	p.G816*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.G816*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACTCCTACGGAACCACCAT	0.607000													31	178					2.2171e-23	4.06352e-23	0.001786	1	0
NAA16	79612	broad.mit.edu	37	13	41892955	41892955	+	Missense_Mutation	SNP	G	G	C	rs143056243	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:41892955G>C	ENST00000379406.3	+	3	477	c.153G>C	c.(151-153)atG>atC	p.M51I	NAA16_ENST00000379367.3_Missense_Mutation_p.M51I|NAA16_ENST00000403412.3_Missense_Mutation_p.M51I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	51					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.M51I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTTTGGCTATGAAAGGATTAA	0.294000													9	67					0	0	0.004482	0	0
CCL14	6358	broad.mit.edu	37	17	34310883	34310883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:34310883C>A	ENST00000480944.2	-	2	2708	c.302G>T	c.(301-303)aGt>aTt	p.S101I	CCL14_ENST00000394509.4_Missense_Mutation_p.S79I|CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000536149.1_Missense_Mutation_p.S95I|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000435911.2_Missense_Mutation_p.S95I|CCL15-CCL14_ENST00000481427.2_3'UTR			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	79					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.S79I(2)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTTGTCACTGGGGTTGGT	0.547000													20	103					9.86323e-18	1.71573e-17	0.003954	1	0
ATP8B2	57198	broad.mit.edu	37	1	154319215	154319215	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:154319215C>T	ENST00000368489.3	+	26	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1067					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1081P(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGTTTCCCAACCAGTTCC	0.517000													60	245					0	0	0.003610	0	0
TFDP3	51270	broad.mit.edu	37	X	132351139	132351139	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:132351139T>C	ENST00000310125.4	-	1	1237	c.1149A>G	c.(1147-1149)ccA>ccG	p.P383P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P323P(2)|p.P383P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCGACTGCTGGGGTCTCCA	0.562000													26	88					0	0	0.004656	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479746	12479746	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:12479746C>G	ENST00000409402.4	-	10	1623	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	SPIRE1_ENST00000410092.3_Missense_Mutation_p.K438N|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K318N|SPIRE1_ENST00000383356.2_Missense_Mutation_p.K279N|SPIRE1_ENST00000309836.5_Missense_Mutation_p.K241N|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	452						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.K279N(2)|p.K452N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTCTGAGGAGCTTCTTCCGCT	0.517000													13	73					0	0	0.002450	0	0
AAGAB	79719	broad.mit.edu	37	15	67500916	67500916	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:67500916C>G	ENST00000261880.5	-	7	803	c.699G>C	c.(697-699)caG>caC	p.Q233H	AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000542650.1_Missense_Mutation_p.Q124H|AAGAB_ENST00000561452.1_Missense_Mutation_p.Q124H	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	233					protein transport	cytoplasm		p.Q233H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGCTATCAACCTGGGCATCTG	0.473000													4	58					0	0	0.000602	0	0
SYPL2	284612	broad.mit.edu	37	1	110019410	110019410	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:110019410C>A	ENST00000369872.3	+	4	483	c.267C>A	c.(265-267)atC>atA	p.I89I	SYPL2_ENST00000401021.3_Silent_p.I89I|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	89	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.I89I(2)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCACCGGATCCAATATGAGA	0.592000													11	46					0.000673444	0.000803431	0.008291	1	0
STARD10	10809	broad.mit.edu	37	11	72492187	72492187	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:72492187G>A	ENST00000334805.6	-	2	959	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	STARD10_ENST00000538536.1_Missense_Mutation_p.R14W|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000543304.1_Missense_Mutation_p.R14W|STARD10_ENST00000545082.1_Missense_Mutation_p.R14W	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	14	START.							p.R14W(2)		endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGACCGGCCGAGGCCCTTGG	0.667000													14	100					0	0	0.002450	0	0
DHTKD1	55526	broad.mit.edu	37	10	12136268	12136268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:12136268C>G	ENST00000263035.4	+	7	1418	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	452					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I452M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACAAAATCATCAGGTACAATT	0.408000													9	88					0	0	0.004482	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121608168	121608168	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:121608168T>C	ENST00000393386.2	+	3	699	c.288T>C	c.(286-288)caT>caC	p.H96H	PTPRZ1_ENST00000449182.1_Silent_p.H96H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	96	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.H96H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATTCATTCATAACACTGGGA	0.303000													19	129					0	0	0.001882	0	0
SEMA3C	10512	broad.mit.edu	37	7	80380631	80380631	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:80380631C>G	ENST00000265361.3	-	16	2226	c.1665G>C	c.(1663-1665)gtG>gtC	p.V555V	SEMA3C_ENST00000419255.2_Silent_p.V555V|SEMA3C_ENST00000544525.1_Silent_p.V573V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	555					immune response|response to drug	membrane	receptor activity	p.V555V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCATGTCTCACATCTTGTC	0.393000													3	84					0	0	0.000248	0	0
GFI1	2672	broad.mit.edu	37	1	92948493	92948493	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:92948493C>T	ENST00000370332.1	-	3	544	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GFI1_ENST00000427103.1_Missense_Mutation_p.E76K|GFI1_ENST00000294702.5_Missense_Mutation_p.E76K	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	76				DSCEG -> RQLRS (in Ref. 1; AAB37272).	negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E76K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		ACGCTGCCTTCGCAGCTGTCT	0.662000													17	76					0	0	0.004007	0	0
DOCK2	1794	broad.mit.edu	37	5	169506137	169506137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:169506137C>A	ENST00000256935.8	+	49	5233	c.5153C>A	c.(5152-5154)tCg>tAg	p.S1718*	DOCK2_ENST00000540750.1_Nonsense_Mutation_p.S779*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.S1210*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1718					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1718*(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCAGAGTCGGACCTGAAG	0.567000													16	51					6.72482e-11	1.01484e-10	0.003163	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373000													9	73					0	0	0.006214	0	0
PDSS2	57107	broad.mit.edu	37	6	107531724	107531724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:107531724C>G	ENST00000369037.4	-	6	1204	c.927G>C	c.(925-927)atG>atC	p.M309I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.M309I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GATTAAAAGTCATGGAGTCAC	0.328000													16	96					0	0	0.004007	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667813	106667813	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:106667813G>T	ENST00000390606.2	-	0	180																											GGCTGCACAGGAGAGTCTCAG	0.572000													21	182					5.26018e-13	8.37305e-13	0.001882	1	0
SLC7A7	9056	broad.mit.edu	37	14	23242826	23242826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:23242826G>T	ENST00000397532.3	-	10	2054	c.1529C>A	c.(1528-1530)tCt>tAt	p.S510Y	SLC7A7_ENST00000555702.1_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S244Y|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S510Y|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S510Y			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	510					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.S510Y(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TGTTTAGTTAGATTTGGGATC	0.488000													20	82					8.10497e-08	1.09767e-07	0.001523	1	0
ITPR1	3708	broad.mit.edu	37	3	4748018	4748018	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:4748018A>C	ENST00000302640.8	+	36	5130	c.4780A>C	c.(4780-4782)Atc>Ctc	p.I1594L	ITPR1_ENST00000443694.2_Missense_Mutation_p.I1594L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I1600L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I1585L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I1609L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I1600L|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1609					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.I1585L(2)|p.I1600L(2)|p.I1594L(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTACCGGAATATCATTGAGAG	0.542000													7	29					0	0	0.003080	0	0
SYN3	8224	broad.mit.edu	37	22	32934062	32934062	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:32934062T>C	ENST00000358763.2	-	9	1194	c.952A>G	c.(952-954)Aca>Gca	p.T318A	SYN3_ENST00000332840.5_Missense_Mutation_p.T318A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	318	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T318A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGAGCCTGTGTTGGCCTTC	0.527000													17	182					0	0	0.008871	0	0
GFRA3	2676	broad.mit.edu	37	5	137593429	137593429	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:137593429C>A	ENST00000274721.3	-	4	930	c.684G>T	c.(682-684)ggG>ggT	p.G228G	GFRA3_ENST00000378362.3_Silent_p.G197G	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	228					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGCGCTCCCCGCAGCCCC	0.706000													10	35					9.70103e-10	1.40556e-09	0.008291	1	0
KRBA1	84626	broad.mit.edu	37	7	149419947	149419947	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:149419947G>T	ENST00000255992.10	+	7	1071	c.672G>T	c.(670-672)cgG>cgT	p.R224R	KRBA1_ENST00000485033.2_Silent_p.R224R|KRBA1_ENST00000319551.8_Silent_p.R224R|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	224								p.R224R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCCCCGGCACCCCGAGA	0.637000													22	100					9.95505e-16	1.69615e-15	0.002299	1	0
MMP16	4325	broad.mit.edu	37	8	89053922	89053922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:89053922C>A	ENST00000286614.6	-	10	1872	c.1591G>T	c.(1591-1593)Ggc>Tgc	p.G531C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	531	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G531C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATCACAGCCCATAAAATCC	0.428000													33	129					2.68265e-12	4.15632e-12	0.002836	1	0
CNGA4	1262	broad.mit.edu	37	11	6262724	6262724	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:6262724T>A	ENST00000379936.2	+	5	1096	c.981T>A	c.(979-981)ccT>ccA	p.P327P	CNGA4_ENST00000533426.1_Silent_p.P96P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	327					response to stimulus|sensory perception of smell		cAMP binding	p.P327P(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTTGCCTGAGCGGCTGC	0.562000													12	126					0	0	0.007413	0	0
AKAP1	8165	broad.mit.edu	37	17	55184111	55184111	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:55184111C>T	ENST00000337714.3	+	2	1519	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	AKAP1_ENST00000571629.1_Missense_Mutation_p.S429L|AKAP1_ENST00000314126.3_Missense_Mutation_p.S429L|AKAP1_ENST00000572557.1_Missense_Mutation_p.S429L|AKAP1_ENST00000539273.1_Missense_Mutation_p.S429L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	429					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.S429L(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCAGAGGGCTCACCACCACCA	0.622000													21	140					0	0	0.008871	0	0
USP32	84669	broad.mit.edu	37	17	58256678	58256678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:58256678C>A	ENST00000300896.4	-	34	4947	c.4753G>T	c.(4753-4755)Gac>Tac	p.D1585Y	USP32_ENST00000592339.1_Missense_Mutation_p.D1255Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1585					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D1585Y(2)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTTGTGTCTGCCATCTTT	0.448000													48	144					9.58827e-17	1.65305e-16	0.003610	1	0
COTL1	23406	broad.mit.edu	37	16	84623799	84623799	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:84623799G>A	ENST00000262428.4	-	3	392	c.230C>T	c.(229-231)gCc>gTc	p.A77V	COTL1_ENST00000564057.1_Missense_Mutation_p.A8V	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	77	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CGTGATGAGGGCAAACTTGGA	0.577000													4	153					0	0	0.000602	0	0
MAG	4099	broad.mit.edu	37	19	35790577	35790577	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:35790577G>A	ENST00000361922.4	+	5	686	c.536G>A	c.(535-537)gGg>gAg	p.G179E	MAG_ENST00000392213.3_Missense_Mutation_p.G179E|MAG_ENST00000597035.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.G154E	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	179	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.G179E(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCACGAGGGGCTGGGGGAG	0.716000													3	20					0	0	0.004672	0	0
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:101795440G>A	ENST00000251127.6	-	17	2190	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	703						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I703I(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468000													24	156					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9049935	9049935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9049935C>G	ENST00000397910.4	-	5	31899	c.31696G>C	c.(31696-31698)Gag>Cag	p.E10566Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10568	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10566Q(2)|p.E6199Q(2)		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						GCTGTGGTCTCTGATTCTCTA	0.488000													34	189					0	0	0.002445	0	0
MGAT4A	11320	broad.mit.edu	37	2	99261914	99261914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:99261914T>C	ENST00000393487.1	-	9	1179	c.866A>G	c.(865-867)gAg>gGg	p.E289G	MGAT4A_ENST00000414521.2_Missense_Mutation_p.E161G|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E289G|MGAT4A_ENST00000264968.2_Missense_Mutation_p.E289G	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	289					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.E289G(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTGGGAAAACTCTAGAATCAT	0.323000													9	143					0	0	0.006214	0	0
COL4A6	1288	broad.mit.edu	37	X	107418937	107418937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:107418937C>A	ENST00000334504.7	-	29	3010	c.2777G>T	c.(2776-2778)gGa>gTa	p.G926V	COL4A6_ENST00000372216.4_Missense_Mutation_p.G927V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G926V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G927V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G926V	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	927	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G926V(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCAGTTGATCCTGGAATTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				17	53					3.52763e-06	4.46526e-06	0.004990	1	0
MMP20	9313	broad.mit.edu	37	11	102464323	102464323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:102464323G>T	ENST00000260228.2	-	8	1106	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	365	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P365H(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGTAGTGGGGACCTGAAAA	0.418000													16	99					4.7546e-09	6.70491e-09	0.004007	1	0
WIPI1	55062	broad.mit.edu	37	17	66430737	66430737	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:66430737C>T	ENST00000262139.5	-	7	651	c.652G>A	c.(652-654)Gat>Aat	p.D218N	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.D136N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	218					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.D218N(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTGCCCATCAGGGACAGAG	0.498000													7	88					0	0	0.004482	0	0
PID1	55022	broad.mit.edu	37	2	230020666	230020666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:230020666C>A	ENST00000392054.3	-	3	477	c.138G>T	c.(136-138)atG>atT	p.M46I	PID1_ENST00000482518.2_5'UTR|PID1_ENST00000392055.3_Missense_Mutation_p.M15I|PID1_ENST00000409462.1_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.M48I	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	48						cytoplasm		p.M46I(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TAGACTTCAGCATGGTCTGAA	0.438000													26	168					3.08376e-08	4.24565e-08	0.003330	1	0
PPP1R7	5510	broad.mit.edu	37	2	242092932	242092932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:242092932G>T	ENST00000234038.6	+	2	568	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	PPP1R7_ENST00000407025.1_Missense_Mutation_p.G32W|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	32						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.G32W(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGATGAAGAAGGGAAGAAACA	0.547000													20	97					1.9806e-07	2.64535e-07	0.002299	1	0
COL22A1	169044	broad.mit.edu	37	8	139628254	139628254	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:139628254G>C	ENST00000303045.6	-	55	4360	c.3914C>G	c.(3913-3915)cCa>cGa	p.P1305R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1285R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1305	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1305R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATCTTTTCCTGGTAACCCTTC	0.567000										HNSCC(7;0.00092)			33	113					0	0	0.003271	0	0
RASSF8	11228	broad.mit.edu	37	12	26217434	26217434	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:26217434G>C	ENST00000405154.2	+	3	306	c.107G>C	c.(106-108)cGa>cCa	p.R36P	RASSF8_ENST00000541490.1_Missense_Mutation_p.R36P|RASSF8_ENST00000381352.3_Missense_Mutation_p.R36P|RASSF8_ENST00000282884.9_Missense_Mutation_p.R36P|RASSF8_ENST00000542865.1_Missense_Mutation_p.R36P	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	36	Ras-associating.				signal transduction			p.R36P(4)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TACATAGGTCGAACTGGAAGG	0.338000													53	164					0	0	0.003610	0	0
COG5	10466	broad.mit.edu	37	7	107013135	107013135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:107013135C>T	ENST00000393603.2	-	8	1104	c.833G>A	c.(832-834)aGt>aAt	p.S278N	COG5_ENST00000297135.3_Missense_Mutation_p.S278N|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.S278N	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	278					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.S278N(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCCACAACACTGGTAATAGT	0.398000													13	92					0	0	0.001368	0	0
LRRK2	120892	broad.mit.edu	37	12	40689416	40689416	+	Silent	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:40689416A>C	ENST00000298910.7	+	23	3124	c.3066A>C	c.(3064-3066)gcA>gcC	p.A1022A	LRRK2_ENST00000343742.2_Silent_p.A1022A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1022					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A1022A(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGAATGCACTCACGAGCT	0.348000													18	105					0	0	0.001523	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:63010527C>G	ENST00000439174.2	-	4	1227	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	GNA13_ENST00000541118.1_Missense_Mutation_p.E233Q	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	328					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000													14	155					0	0	0.003163	0	0
NOL6	65083	broad.mit.edu	37	9	33467207	33467207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:33467207C>A	ENST00000379471.2	-	14	1866	c.1779G>T	c.(1777-1779)caG>caT	p.Q593H	NOL6_ENST00000455041.2_Missense_Mutation_p.Q541H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	593					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.Q593H(2)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGCTCCGTCCTGGAAACGCC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	84					4.3838e-07	5.76242e-07	0.001855	1	0
OR11H4	390442	broad.mit.edu	37	14	20711267	20711267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:20711267G>T	ENST00000315409.2	+	1	370	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCATTTTCTGGGTGCTTCCTC	0.453000													50	174					1.81118e-26	3.38359e-26	0.003610	1	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185390	32185390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:32185390C>A	ENST00000329621.4	-	1	180	c.149G>T	c.(148-150)gGg>gTg	p.G50V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						GCCGAAAGCCCCACAGCCGTT	0.562000													14	97					1.3612e-06	1.75746e-06	0.003163	1	0
KPNB1	3837	broad.mit.edu	37	17	45755523	45755523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:45755523C>G	ENST00000290158.4	+	18	2622	c.2215C>G	c.(2215-2217)Ctt>Gtt	p.L739V	KPNB1_ENST00000537679.1_Missense_Mutation_p.L523V|KPNB1_ENST00000535458.2_Missense_Mutation_p.L594V|KPNB1_ENST00000540627.1_Missense_Mutation_p.L594V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	739					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.L739V(2)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTGAATACTCTTCAGCAGGC	0.438000													26	219					0	0	0.003954	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097635	38097635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:38097635G>T	ENST00000261439.4	+	14	2677	c.2322G>T	c.(2320-2322)tgG>tgT	p.W774C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.W868C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	774						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTACAGTGTGGGAAAAGATGC	0.408000													28	212					4.87955e-14	7.94124e-14	0.005443	1	0
USP9X	8239	broad.mit.edu	37	X	41064746	41064746	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:41064746G>T	ENST00000324545.7	+	32	5648	c.5015_splice	c.e32+1	p.R1672_splice	USP9X_ENST00000378308.2_Splice_Site_p.R1672_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1672					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.R1672M(2)|p.R1665M(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACAGTTCAGGTAAACTATG	0.373000													22	74					1.10513e-12	1.73068e-12	0.002299	1	0
TBC1D16	125058	broad.mit.edu	37	17	77925310	77925310	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:77925310T>A	ENST00000310924.2	-	5	1143	c.1028A>T	c.(1027-1029)gAc>gTc	p.D343V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	343						intracellular	Rab GTPase activator activity	p.D343V(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGACAGCTTGTCCAGGCCGCC	0.612000													26	140					0	0	0.004656	0	0
EPHA6	285220	broad.mit.edu	37	3	96706286	96706286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:96706286G>T	ENST00000389672.5	+	3	601	c.563G>T	c.(562-564)cGt>cTt	p.R188L	EPHA6_ENST00000542517.1_Missense_Mutation_p.R94L|EPHA6_ENST00000470610.2_Missense_Mutation_p.R188L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	93	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R94L(4)|p.R188L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGATCTCCCGTGATGCAGCT	0.403000													48	160					3.54909e-21	6.36426e-21	0.002852	1	0
OR6V1	346517	broad.mit.edu	37	7	142749605	142749605	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:142749605C>G	ENST00000418316.1	+	1	189	c.168C>G	c.(166-168)ccC>ccG	p.P56P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56P(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TACATACACCCATGTACTTCT	0.498000													62	364					0	0	0.003610	0	0
DPEP2	64174	broad.mit.edu	37	16	68021439	68021439	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:68021439G>T	ENST00000412757.2	-	12	2096	c.1431C>A	c.(1429-1431)gcC>gcA	p.A477A	DPEP2_ENST00000572888.1_Silent_p.A477A|DPEP2_ENST00000393847.1_Silent_p.A477A			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	477					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.A477A(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGGGAAGGTGGCCACAACTG	0.547000													71	293					1.15062e-32	2.17755e-32	0.003610	1	0
IARS2	55699	broad.mit.edu	37	1	220311269	220311269	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:220311269A>G	ENST00000366922.1	+	17	2174	c.1843A>G	c.(1843-1845)Aaa>Gaa	p.K615E	IARS2_ENST00000302637.5_Missense_Mutation_p.K687E			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	687					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.K687E(2)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGATCAAAGCAAAGAGCCTCC	0.418000													15	151					0	0	0.004990	0	0
DERL1	79139	broad.mit.edu	37	8	124033690	124033690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:124033690C>A	ENST00000259512.4	-	6	803	c.503G>T	c.(502-504)gGc>gTc	p.G168V	DERL1_ENST00000419562.2_Missense_Mutation_p.G68V|DERL1_ENST00000519018.1_Missense_Mutation_p.G68V|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.G168V|DERL1_ENST00000523036.1_Missense_Mutation_p.G68V	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	168					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	p.G168V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CACTTACGAGCCTCCGATGAT	0.353000													30	234					1.38854e-25	2.57745e-25	0.008361	1	0
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:98146809G>T	ENST00000357947.3	-	14	1978	c.1753C>A	c.(1753-1755)Cac>Aac	p.H585N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592000													11	113					1.56452e-12	2.44352e-12	0.007413	1	0
ANGPT4	51378	broad.mit.edu	37	20	869027	869027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:869027G>A	ENST00000381922.3	-	3	623	c.521C>T	c.(520-522)aCc>aTc	p.T174I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T174I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	174					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T174I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTTGTTGGTGGACAGAAA	0.582000													21	97					0	0	0.001523	0	0
MYOCD	93649	broad.mit.edu	37	17	12647645	12647645	+	Missense_Mutation	SNP	G	G	C	rs140013261	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:12647645G>C	ENST00000425538.1	+	8	1063	c.863G>C	c.(862-864)cGg>cCg	p.R288P	MYOCD_ENST00000395988.1_Missense_Mutation_p.R192P|MYOCD_ENST00000343344.4_Missense_Mutation_p.R288P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	288					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R288P(4)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTACGCTCGGCTGCTCCAG	0.557000													17	81					0	0	0.004990	0	0
OR5M3	219482	broad.mit.edu	37	11	56237426	56237426	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:56237426A>T	ENST00000312240.2	-	1	588	c.548T>A	c.(547-549)aTc>aAc	p.I183N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCATTTTGATGAGAGGTGG	0.408000													31	177					0	0	0.002096	0	0
EPG5	57724	broad.mit.edu	37	18	43497731	43497731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:43497731G>C	ENST00000282041.5	-	17	3186	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1051					autophagy			p.S1051*(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAAATGTCTTGACTGGACCAG	0.428000													6	172					0	0	0.001984	0	0
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:114284743G>T	ENST00000393500.3	+	14	1588	c.768G>T	c.(766-768)tcG>tcT	p.S256S	FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000350908.4_Silent_p.S331S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000393494.2_Silent_p.S331S|FOXP2_ENST00000403559.4_Silent_p.S348S|FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000360232.4_Silent_p.S331S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468000													11	80					7.03913e-09	9.87858e-09	0.001368	1	0
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692000													32	175					0	0	0.008361	0	0
GRID2	2895	broad.mit.edu	37	4	94159624	94159624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:94159624G>T	ENST00000282020.4	+	8	1486	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	GRID2_ENST00000510992.1_Missense_Mutation_p.G315C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	410					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G410C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGAGCTTGGCAGAGGTGT	0.408000													26	189					1.26454e-06	1.64362e-06	0.005443	1	0
KMT2D	8085	broad.mit.edu	37	12	49436374	49436374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:49436374C>G	ENST00000301067.7	-	27	5836	c.5837G>C	c.(5836-5838)gGc>gCc	p.G1946A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1946A(2)|p.G1676A(2)									CTGGCAGAGGCCTGGGTAGGA	0.557000													27	64					0	0	0.005443	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184741	32184741	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:32184741G>T	ENST00000375023.3	-	11	1980	c.1842C>A	c.(1840-1842)ctC>ctA	p.L614L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	614	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L614L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGAGGGGCAGAGGCAAAAGA	0.527000													23	118					1.85244e-09	2.63791e-09	0.003330	1	0
WDR89	112840	broad.mit.edu	37	14	64065848	64065848	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:64065848T>C	ENST00000394942.2	-	2	901	c.813A>G	c.(811-813)gaA>gaG	p.E271E	WDR89_ENST00000267522.3_Silent_p.E271E|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	271								p.E271E(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CCAAAGCATCTTCTTTCATGT	0.373000													64	240					0	0	0.003610	0	0
PCDH10	57575	broad.mit.edu	37	4	134073054	134073054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:134073054C>A	ENST00000264360.4	+	1	2585	c.1759C>A	c.(1759-1761)Cgt>Agt	p.R587S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R587S(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTCCAGCGCGTGAGGTGCT	0.662000													9	87					0.00829132	0.00963451	0.008291	1	0
POLE	5426	broad.mit.edu	37	12	133256133	133256133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:133256133C>G	ENST00000320574.5	-	6	571	c.528G>C	c.(526-528)aaG>aaC	p.K176N	POLE_ENST00000535270.1_Missense_Mutation_p.K149N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	176					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.K176N(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCCCTGTTCTTCTTCACGG	0.507000								DNA polymerases (catalytic subunits)					21	158					0	0	0.002780	0	0
EIF2D	1939	broad.mit.edu	37	1	206785640	206785640	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:206785640C>A	ENST00000271764.2	-	1	264	c.56_splice	c.e1+1	p.R19_splice	EIF2D_ENST00000367114.3_Splice_Site_p.R19_splice	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	19					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.R19M(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCCCTCACCTGTCCGACCC	0.617000													48	141					5.13769e-22	9.29905e-22	0.003610	1	0
FMN2	56776	broad.mit.edu	37	1	240370500	240370500	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:240370500C>A	ENST00000319653.9	+	5	2618	c.2388C>A	c.(2386-2388)gtC>gtA	p.V796V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	796	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.V939V(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAATATCAGTCCAGCTCGACA	0.577000													46	121					6.68952e-21	1.18857e-20	0.003214	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587734	40587734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:40587734C>A	ENST00000450241.2	-	5	433	c.122G>T	c.(121-123)cGg>cTg	p.R41L	ZNF780A_ENST00000414720.2_Missense_Mutation_p.R91L|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R75L|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R75L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R76L|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R76L			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCTGGATACCGTCTGCTTGT	0.443000													14	116					3.99206e-14	6.5705e-14	0.007413	1	0
NELL2	4753	broad.mit.edu	37	12	45000952	45000952	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:45000952C>A	ENST00000429094.2	-	15	2167	c.1663_splice	c.e15+1	p.D555_splice	NELL2_ENST00000549027.1_Splice_Site_p.D554_splice|NELL2_ENST00000437801.2_Splice_Site_p.D605_splice|NELL2_ENST00000395487.2_Splice_Site_p.D554_splice|NELL2_ENST00000452445.2_Splice_Site_p.D555_splice|NELL2_ENST00000333837.4_Splice_Site_p.D578_splice|NELL2_ENST00000551601.1_Splice_Site_p.D554_splice	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	555	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D555Y(1)|p.D605Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATATTCTTACCCGTTTCACAG	0.408000													29	82					3.17567e-06	4.03734e-06	0.008361	1	0
CDH10	1008	broad.mit.edu	37	5	24509715	24509715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:24509715C>A	ENST00000264463.4	-	7	1723	c.1216G>T	c.(1216-1218)Gta>Tta	p.V406L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V406L(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCCATTACAGTACCAATG	0.438000										HNSCC(23;0.051)			22	130					1.10923e-09	1.59127e-09	0.002780	1	0
VAC14	55697	broad.mit.edu	37	16	70765433	70765433	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:70765433C>T	ENST00000261776.5	-	14	1886	c.1626G>A	c.(1624-1626)cgG>cgA	p.R542R		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	542					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R542R(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGGAGCTTCCGTTCGCTGC	0.507000													8	189					0	0	0.006214	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394394	233394394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:233394394C>A	ENST00000258229.8	-	5	1448	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	405						integral to membrane		p.S405I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGACTTTACACTGGTCTTCTC	0.532000													28	224					7.01153e-11	1.05264e-10	0.007291	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69034445	69034445	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:69034445A>G	ENST00000295381.3	+	5	923	c.504A>G	c.(502-504)gaA>gaG	p.E168E	ARHGAP25_ENST00000409030.3_Silent_p.E161E|ARHGAP25_ENST00000497079.1_Silent_p.E162E|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Silent_p.E169E|ARHGAP25_ENST00000467265.1_Silent_p.E129E|ARHGAP25_ENST00000544262.1_Silent_p.E143E|ARHGAP25_ENST00000409220.1_Silent_p.E162E	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	168	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E162E(2)|p.E169E(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGCCTATGAACAGAAATTCG	0.542000													19	68					0	0	0.008871	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325952	15325952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:15325952T>A	ENST00000378116.4	-	2	256	c.250A>T	c.(250-252)Agt>Tgt	p.S84C		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	84						integral to membrane		p.S84C(4)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCAACTGACTGCCCAGCTTA	0.537000													17	136					0	0	0.006122	0	0
DDX11	1663	broad.mit.edu	37	12	31253967	31253967	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:31253967T>G	ENST00000407793.2	+	20	2206	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	DDX11_ENST00000542838.1_Missense_Mutation_p.V652G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.V626G|DDX11_ENST00000350437.4_Missense_Mutation_p.V652G|DDX11_ENST00000545668.1_Missense_Mutation_p.V652G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.V652G(4)|p.V652A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTCACGTGATCCCTCCA	0.577000										Multiple Myeloma(12;0.14)			62	252					0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21713354	21713354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:21713354T>A	ENST00000261195.2	-	8	1389	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	379					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.T379S(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTTCAGGGTTTCCACGTTG	0.378000													29	273					0	0	0.002445	0	0
DCT	1638	broad.mit.edu	37	13	95121061	95121061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:95121061G>T	ENST00000377028.5	-	2	947	c.534C>A	c.(532-534)aaC>aaA	p.N178K	DCT_ENST00000446125.1_Missense_Mutation_p.N178K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	178					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.N178K(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAACACTGCAGTTGGCAAACT	0.453000													55	227					1.27862e-28	2.41194e-28	0.003610	1	0
GPR61	83873	broad.mit.edu	37	1	110086511	110086511	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:110086511C>A	ENST00000527748.1	+	2	1550	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	289						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L289L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGTGGTTCTCCTGGCTGTGG	0.617000													24	122					3.99451e-17	6.92779e-17	0.001786	1	0
TUBA8	51807	broad.mit.edu	37	22	18613793	18613793	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:18613793G>A	ENST00000330423.3	+	5	1313	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E414K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AGAGGGGATGGAAGAAGGAGA	0.542000													20	92					0	0	0.007413	0	0
MYH13	8735	broad.mit.edu	37	17	10222113	10222113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10222113C>G	ENST00000418404.3	-	26	3895	c.3732G>C	c.(3730-3732)aaG>aaC	p.K1244N	MYH13_ENST00000570743.1_Missense_Mutation_p.K1244N|MYH13_ENST00000252172.4_Missense_Mutation_p.K1244N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1244N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTACCTTTGACTTGGAGAGAG	0.562000													14	106					0	0	0.004990	0	0
PAX4	5078	broad.mit.edu	37	7	127253901	127253901	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:127253901A>T	ENST00000341640.2	-	4	652	c.447T>A	c.(445-447)agT>agA	p.S149R	PAX4_ENST00000378740.2_Missense_Mutation_p.S149R|PAX4_ENST00000338516.3_Missense_Mutation_p.S157R|PAX4_ENST00000463946.1_Missense_Mutation_p.S147R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	157					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S149R(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCAGAGCCACTATGGGGAG	0.572000													16	98					0	0	0.004990	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858239	27858239	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:27858239C>G	ENST00000359303.2	-	1	331	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111S(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GTGAATAGCACAGAGGTTGGT	0.547000													15	124					0	0	0.003163	0	0
BRINP2	57795	broad.mit.edu	37	1	177250580	177250580	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:177250580G>T	ENST00000361539.4	+	8	2580	c.2268G>T	c.(2266-2268)gtG>gtT	p.V756V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		756						extracellular region		p.V756V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACAATGAGGTGGGCAGGATCC	0.552000													23	154					1.10923e-09	1.59127e-09	0.002780	1	0
PAX2	5076	broad.mit.edu	37	10	102584414	102584414	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:102584414T>A	ENST00000370296.2	+	9	1548	c.998T>A	c.(997-999)aTg>aAg	p.M333K	PAX2_ENST00000556085.1_Missense_Mutation_p.M309K|PAX2_ENST00000355243.3_Missense_Mutation_p.M310K|PAX2_ENST00000428433.1_Missense_Mutation_p.M333K|PAX2_ENST00000361791.3_Missense_Mutation_p.M310K			Q02962	PAX2_HUMAN	paired box 2	333					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.M333K(2)|p.M310K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTCGTGACATGGCGAGCACC	0.612000													33	196					0	0	0.003271	0	0
FBXO40	51725	broad.mit.edu	37	3	121341414	121341414	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:121341414A>T	ENST00000338040.4	+	3	1552	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	380					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.T380S(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGCAGTGGATACTTCAGATTT	0.483000													41	121					0	0	0.002522	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305908	9305908	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrY:9305908G>T	ENST00000451548.1	+	3	610		c.e3-1		AC006156.1_ENST00000450145.1_Intron|TSPY1_ENST00000423647.2_Splice_Site|TSPY3_ENST00000440483.1_Intron|AC006156.1_ENST00000423213.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1						cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	p.?(2)		lung(4)	4						TGTCCTGACAGGTGGGAGAAG	0.458000													37	413					6.70999e-13	1.05938e-12	0.004289	1	0
ROBO2	6092	broad.mit.edu	37	3	75986693	75986693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:75986693C>T	ENST00000487694.3	+	2	328	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P17S(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACATGGGCTCCGGGACTGTT	0.458000													4	33					0	0	0.000248	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634999	122634999	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:122634999G>A	ENST00000249284.2	-	1	755	c.690C>T	c.(688-690)gcC>gcT	p.A230A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A230A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAATAAGACGGCAAGGGACC	0.433000													25	133					0	0	0.002780	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:57896476G>T	ENST00000381227.1	+	25	3759	c.3346G>T	c.(3346-3348)Gtt>Ttt	p.V1116F	POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116F|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041F|POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(2)|p.V1116I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000													19	116					5.03518e-11	7.63823e-11	0.007413	1	0
CLRN2	645104	broad.mit.edu	37	4	17524543	17524543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:17524543C>A	ENST00000511148.2	+	2	412	c.310C>A	c.(310-312)Ctc>Atc	p.L104I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	104						integral to membrane		p.L121I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATTCTGCTGCTCCTCTTCCT	0.557000													40	258					5.04308e-16	8.64315e-16	0.006230	1	0
LAMA1	284217	broad.mit.edu	37	18	6943380	6943380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:6943380C>A	ENST00000389658.3	-	62	8959	c.8866G>T	c.(8866-8868)Ggt>Tgt	p.G2956C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2956	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2956C(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCAGCACCATTGTTGACA	0.408000													18	162					9.16793e-09	1.2743e-08	0.004990	1	0
SLC5A1	6523	broad.mit.edu	37	22	32482262	32482262	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:32482262T>A	ENST00000266088.4	+	10	1327	c.1077T>A	c.(1075-1077)gtT>gtA	p.V359V	SLC5A1_ENST00000543737.1_Silent_p.V232V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	359					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.V359V(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTACCAAGGTTGGCTGTACCA	0.493000													34	179					0	0	0.002836	0	0
GABBR2	9568	broad.mit.edu	37	9	101216375	101216375	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:101216375G>T	ENST00000259455.2	-	7	1583	c.1124C>A	c.(1123-1125)aCa>aAa	p.T375K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	375					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T375K(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCATGCAGTGTCTCCATGGC	0.592000													15	67					1.99824e-07	2.65063e-07	0.004990	1	0
DNAH2	146754	broad.mit.edu	37	17	7734558	7734558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:7734558C>G	ENST00000572933.1	+	80	13845	c.12385C>G	c.(12385-12387)Ctc>Gtc	p.L4129V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4129V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4129					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L4129V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCACAAACCCTCTTTGATAC	0.562000													25	339					0	0	0.003954	0	0
CDH20	28316	broad.mit.edu	37	18	59166451	59166451	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:59166451C>A	ENST00000262717.4	+	3	677	c.279C>A	c.(277-279)tcC>tcA	p.S93S	CDH20_ENST00000538374.1_Silent_p.S93S|CDH20_ENST00000536675.2_Silent_p.S93S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	93	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S93S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGACGGATCCATCAAATACA	0.483000													6	60					0.00198382	0.00234268	0.001984	1	0
FAM107A	11170	broad.mit.edu	37	3	58555486	58555486	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:58555486C>A	ENST00000394481.1	-	3	660	c.102G>T	c.(100-102)ctG>ctT	p.L34L	FAM107A_ENST00000360997.2_Silent_p.L34L|FAM107A_ENST00000464064.1_Silent_p.L34L|FAM107A_ENST00000447756.2_Silent_p.L62L|FAM107A_ENST00000474531.1_Silent_p.L65L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	34					regulation of cell growth	nucleus	protein binding	p.L34L(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CGGGGTTCAGCAGCTTCTTGG	0.622000													27	156					2.48779e-11	3.79372e-11	0.005443	1	0
OR2L3	391192	broad.mit.edu	37	1	248224602	248224602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248224602G>T	ENST00000359959.3	+	1	619	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207L(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CATCTTTCTCGTGTTTCCCTT	0.493000													19	283					7.87624e-14	1.27824e-13	0.002780	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851711	14851711	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:14851711A>T	ENST00000358984.4	+	36	3591	c.3411A>T	c.(3409-3411)gtA>gtT	p.V1137V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1222								p.V1137V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAACAGTAACAAAAAGGG	0.353000													6	47					0	0	0.001168	0	0
HOXD12	3238	broad.mit.edu	37	2	176965302	176965302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:176965302C>A	ENST00000406506.2	+	2	699	c.627C>A	c.(625-627)taC>taA	p.Y209*	HOXD12_ENST00000404162.2_Missense_Mutation_p.H219N			P35452	HXD12_HUMAN	homeobox D12	209						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y209*(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGAAACCCTACACGAAGCAGC	0.587000													6	21					0.00116845	0.00138262	0.001168	1	0
TMEM168	64418	broad.mit.edu	37	7	112424746	112424746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:112424746C>A	ENST00000312814.5	-	2	695	c.135G>T	c.(133-135)ttG>ttT	p.L45F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L45F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	45						integral to membrane|transport vesicle		p.L45F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATATAGCAACCAATAAATTGA	0.348000													15	74					6.31663e-08	8.57467e-08	0.003163	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896946	48896946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:48896946C>T	ENST00000394754.1	+	9	3290	c.3176C>T	c.(3175-3177)aCa>aTa	p.T1059I	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T321I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1012I|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T355I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1059I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1012					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T4I(4)|p.T1059I(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCGGTGATACATCTTCCAAT	0.378000													20	145					0	0	0.007413	0	0
LRRN2	10446	broad.mit.edu	37	1	204588984	204588984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:204588984G>T	ENST00000367175.1	-	1	2349	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	LRRN2_ENST00000367176.3_Missense_Mutation_p.S46Y|LRRN2_ENST00000367177.3_Missense_Mutation_p.S46Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	46	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.S46Y(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCGCGGTAGGACGAGCGGGG	0.667000													9	81					0.00448238	0.00523997	0.004482	1	0
GRK5	2869	broad.mit.edu	37	10	121212201	121212201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:121212201A>T	ENST00000392870.2	+	14	1752	c.1423A>T	c.(1423-1425)Aag>Tag	p.K475*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.K370*|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	475	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.K475*(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGTACTGTAAGGACGTGCT	0.622000													13	88					0	0	0.001855	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143691	142143691	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:142143691G>T	ENST00000390373.2	-	0	304																											AGTCTGAGAGGGAGCAGCTGA	0.527000													18	143					6.94344e-10	1.01106e-09	0.006122	1	0
EPHA4	2043	broad.mit.edu	37	2	222428583	222428583	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:222428583C>A	ENST00000281821.2	-	3	732	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	EPHA4_ENST00000392071.4_Missense_Mutation_p.G180C|EPHA4_ENST00000409854.1_Missense_Mutation_p.G231C|EPHA4_ENST00000409938.1_Missense_Mutation_p.G231C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G231C(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACACAGGAGCCTCGAACTTCC	0.512000													36	221					3.62531e-18	6.36345e-18	0.004289	1	0
KRT16P6	353194	broad.mit.edu	37	17	16723389	16723389	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:16723389G>T	ENST00000417510.1	-	0	730																											CCACACTCATGCGCAGGTTCA	0.562000													8	146					1.26484e-09	1.81004e-09	0.003080	1	0
AHI1	54806	broad.mit.edu	37	6	135611635	135611635	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:135611635C>T	ENST00000367800.4	-	26	3730	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	AHI1_ENST00000417892.2_3'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.E1172K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1172						adherens junction|cilium|microtubule basal body		p.E1172K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGGTCCTCATGGCTCTGT	0.428000													17	342					0	0	0.006122	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107242	249107242	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000411742.2_Silent_p.I187I|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652000													11	111					0	0	0.008291	0	0
CELSR2	1952	broad.mit.edu	37	1	109806746	109806746	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:109806746A>G	ENST00000271332.3	+	10	5109	c.5048A>G	c.(5047-5049)cAg>cGg	p.Q1683R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1683	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACAGGGCTTCAGGCCTCCTCT	0.632000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	97					0	0	0.000602	0	0
CTSC	1075	broad.mit.edu	37	11	88027474	88027474	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:88027474C>T	ENST00000227266.5	-	7	1206	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	364					immune response	lysosome	cysteine-type endopeptidase activity	p.L364L(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGATGGACCAACTCAAGCT	0.458000													38	174					0	0	0.004878	0	0
C1orf173	127254	broad.mit.edu	37	1	75055428	75055428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:75055428G>T	ENST00000326665.5	-	12	2281	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	C1orf173_ENST00000420661.2_Missense_Mutation_p.S491Y|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	688	Glu-rich.							p.S688Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGTTTCCCGGACTTCTCAGA	0.458000													45	264					7.05121e-23	1.28829e-22	0.002522	1	0
C1orf173	127254	broad.mit.edu	37	1	75055641	75055641	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:75055641C>G	ENST00000326665.5	-	12	2068	c.1850G>C	c.(1849-1851)aGg>aCg	p.R617T	C1orf173_ENST00000420661.2_Missense_Mutation_p.R420T|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.							p.R617T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAGATGACCTTCTGGCACT	0.438000													17	121					0	0	0.006122	0	0
GPR12	2835	broad.mit.edu	37	13	27333529	27333529	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:27333529G>A	ENST00000405846.3	-	2	657	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	GPR12_ENST00000381436.2_Silent_p.L146L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	146						integral to plasma membrane		p.L146L(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGTACGTCAGAGCGTAGTAC	0.577000													21	100					0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11514989	11514989	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:11514989T>C	ENST00000262442.3	+	4	864	c.796T>C	c.(796-798)Tat>Cat	p.Y266H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y266H|DNAH9_ENST00000579828.1_Missense_Mutation_p.Y266H|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	266	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y266H(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAATACATCTATAATCAACT	0.448000													25	118					0	0	0.003954	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558265	11558265	+	Silent	SNP	C	C	T	rs149732361		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:11558265C>T	ENST00000252455.2	+	11	1197	c.861C>T	c.(859-861)acC>acT	p.T287T	PRKCSH_ENST00000591462.1_Silent_p.T287T|PRKCSH_ENST00000589838.1_Silent_p.T287T|PRKCSH_ENST00000592741.1_Silent_p.T287T|PRKCSH_ENST00000587327.1_Silent_p.T287T|PRKCSH_ENST00000412601.1_Silent_p.T287T	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	287	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.T287T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CACTGCCCACCGACCTTCCAG	0.677000													5	37					0	0	0.000602	0	0
CD200R1	131450	broad.mit.edu	37	3	112648181	112648181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:112648181C>A	ENST00000471858.1	-	3	539	c.307G>T	c.(307-309)Gag>Tag	p.E103*	CD200R1_ENST00000490004.1_Nonsense_Mutation_p.E103*|CD200R1_ENST00000308611.3_Nonsense_Mutation_p.E126*|CD200R1_ENST00000440122.2_Nonsense_Mutation_p.E126*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.E81*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	103	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.E126*(4)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTATTCTCTCATCAGTACAG	0.443000													48	171					2.37804e-12	3.69422e-12	0.003610	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745860	138745860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:138745860G>T	ENST00000242351.5	-	9	2334	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S673Y|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S795Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	673	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.S673Y(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAGTTTTGGAAGCTATGTT	0.403000													34	194					3.93418e-24	7.25638e-24	0.004289	1	0
SBK1	388228	broad.mit.edu	37	16	28331646	28331646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:28331646G>T	ENST00000341901.4	+	4	1468	c.679G>T	c.(679-681)Ggg>Tgg	p.G227W		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	227	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.G227W(1)|p.G227V(1)		kidney(1)|lung(3)|ovary(1)	5						CCGCGCCGACGGGCTGGCGGT	0.731000													4	27					0.00621372	0.00723481	0.006214	1	0
RYR3	6263	broad.mit.edu	37	15	34115267	34115267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:34115267C>A	ENST00000389232.4	+	81	11136	c.11066C>A	c.(11065-11067)tCt>tAt	p.S3689Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3684Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3689					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3688Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTATGCAGTCTTGCAGGTAA	0.433000													12	70					4.3838e-07	5.76242e-07	0.001855	1	0
EMR1	2015	broad.mit.edu	37	19	6897298	6897298	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:6897298G>A	ENST00000312053.4	+	4	414	c.377G>A	c.(376-378)gGc>gAc	p.G126D	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.G126D|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.G126D	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	126	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G126D(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGAAAGCCGGGCAATTTCTCC	0.498000													6	104					0	0	0.001984	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468562	26468562	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:26468562G>A	ENST00000312541.5	+	8	1617	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E396K|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	457	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane		p.E457K(2)|p.E443K(2)		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						CCTGGACTATGAAGCTGGAGA	0.542000													23	152					0	0	0.001882	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594075	7594075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:7594075G>T	ENST00000342415.5	+	2	324	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	89					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	p.E89*(2)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TACCAAAGAAGAAGAGGTACC	0.333000													16	70					4.14922e-12	6.39442e-12	0.004007	1	0
IL7R	3575	broad.mit.edu	37	5	35876456	35876456	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:35876456C>G	ENST00000303115.3	+	8	1377	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	416					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P416P(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCACGCTGCCCCCTCCATTTT	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						28	102					0	0	0.005443	0	0
PCDH15	65217	broad.mit.edu	37	10	55721653	55721653	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:55721653C>T	ENST00000373965.2	-	23	3284		c.e23-1		PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.?(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGTAATCCCtaaaataaaa	0.308000										HNSCC(58;0.16)			17	98					0	0	0.004007	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252230	30252230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:30252230C>A	ENST00000303775.5	-	4	383	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	120					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.V120L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGATTAAACACCAGAAGATCA	0.289000													26	164					4.74835e-14	7.77125e-14	0.002096	1	0
WWTR1	25937	broad.mit.edu	37	3	149374727	149374727	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:149374727C>G	ENST00000465804.1	-	3	623	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	WWTR1_ENST00000360632.3_Missense_Mutation_p.E123Q|WWTR1_ENST00000467467.1_Missense_Mutation_p.E123Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	123					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.E123Q(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGTGGCAGCTCGTCGGTCACG	0.687000			T	CAMTA1	epitheliod hemangioendothelioma								18	37					0	0	0.008871	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973836	69973836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:69973836G>T	ENST00000305231.7	+	5	1152	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	369					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R369I(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAAAGACCAGAGCTTTTATA	0.418000													32	226					7.63505e-26	1.42178e-25	0.002445	1	0
PRR23C	389152	broad.mit.edu	37	3	138762887	138762887	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:138762887G>T	ENST00000413199.1	-	1	847	c.576C>A	c.(574-576)ggC>ggA	p.G192G	PRR23C_ENST00000502927.2_Silent_p.G192G|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	192	Pro-rich.							p.G192G(2)		breast(2)|lung(7)|skin(2)	11						CTCGGATGGGGCCCTCCCGGT	0.647000													16	36					1.15088e-07	1.55141e-07	0.004007	1	0
CDH6	1004	broad.mit.edu	37	5	31305452	31305452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:31305452C>A	ENST00000265071.2	+	7	1436	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q336K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q391K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACATCTTACAAATAAGAGA	0.468000													46	119					6.48837e-15	1.08015e-14	0.002522	1	0
COBL	23242	broad.mit.edu	37	7	51096323	51096323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:51096323C>T	ENST00000395542.2	-	12	2900	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	COBL_ENST00000265136.7_Missense_Mutation_p.E824K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	824								p.E824K(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCGGCCCTCATGGTGGGCA	0.627000													17	84					0	0	0.006122	0	0
ANKH	56172	broad.mit.edu	37	5	14746065	14746065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:14746065C>A	ENST00000284268.6	-	7	1159	c.829G>T	c.(829-831)Gcg>Tcg	p.A277S	ANKH_ENST00000535119.1_Missense_Mutation_p.A79S|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	277					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.A277S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCAAAATCGCCACTGCCTGC	0.567000													18	55					6.94344e-10	1.01106e-09	0.006122	1	0
OR8B8	26493	broad.mit.edu	37	11	124310713	124310713	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:124310713T>C	ENST00000328064.2	-	1	341	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGATGCTGTTCTTCTTTAA	0.423000													16	117					0	0	0.004007	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:15134401G>A	ENST00000266395.2	+	4	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(2)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000													30	97					0	0	0.004289	0	0
CASP4	837	broad.mit.edu	37	11	104825538	104825538	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:104825538A>G	ENST00000444739.2	-	2	1108	c.198T>C	c.(196-198)cgT>cgC	p.R66R	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Silent_p.R10R	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	66	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R66R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTCCTGCCATACGTTGCTTCT	0.358000													35	173					0	0	0.004878	0	0
FLG	2312	broad.mit.edu	37	1	152286758	152286758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:152286758C>A	ENST00000368799.1	-	3	639	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	202					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E202*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGTCTTTCACTTAGCCTC	0.328000									Ichthyosis				8	149					0.000157383	0.000190499	0.003080	1	0
FAM135B	51059	broad.mit.edu	37	8	139380193	139380193	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:139380193C>T	ENST00000395297.1	-	2	204	c.34G>A	c.(34-36)Gta>Ata	p.V12I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	12								p.V12I(2)|p.V12L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTAGCTCTACCGAAAACTCA	0.368000										HNSCC(54;0.14)			7	221					0	0	0.001984	0	0
WDR6	11180	broad.mit.edu	37	3	49050698	49050698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:49050698C>G	ENST00000395474.3	+	2	2101	c.1821C>G	c.(1819-1821)tgC>tgG	p.C607W	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.C526W	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	577					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.C577W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGTCACATGCCATGGTGGCT	0.577000													17	62					0	0	0.008871	0	0
MATN1	4146	broad.mit.edu	37	1	31194492	31194492	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:31194492G>T	ENST00000373765.4	-	2	236	c.201C>A	c.(199-201)gtC>gtA	p.V67V	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	67	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.V67V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACTCGATGACCTGGGACA	0.597000													35	170					1.30293e-26	2.44195e-26	0.003271	1	0
PDE10A	10846	broad.mit.edu	37	6	165827162	165827162	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:165827162A>T	ENST00000366882.1	-	14	1229	c.1075T>A	c.(1075-1077)Tac>Aac	p.Y359N	PDE10A_ENST00000539869.2_Missense_Mutation_p.Y369N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y359N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	359	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Y359N(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAGCCTGTGTACAAGTCTACT	0.483000													8	44					0	0	0.004482	0	0
STOX1	219736	broad.mit.edu	37	10	70645915	70645915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:70645915G>T	ENST00000298596.6	+	3	2446	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	STOX1_ENST00000421961.2_Missense_Mutation_p.R678M|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R788M	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	788						cytoplasm|nucleolus	DNA binding	p.R788M(2)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACAATGGAGAGGGTTGAGTCT	0.458000													14	101					3.27435e-08	4.47623e-08	0.002450	1	0
RALGPS1	9649	broad.mit.edu	37	9	129957388	129957388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:129957388G>T	ENST00000259351.5	+	12	1196	c.929G>T	c.(928-930)gGt>gTt	p.G310V	RALGPS1_ENST00000373434.1_Missense_Mutation_p.G310V|RALGPS1_ENST00000424082.2_Missense_Mutation_p.G310V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	310					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G310V(4)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTGGCTCCGGTTCTGCGAGG	0.622000													32	187					7.11191e-15	1.18058e-14	0.002836	1	0
PARD3B	117583	broad.mit.edu	37	2	205978257	205978257	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:205978257A>T	ENST00000406610.2	+	6	843	c.636A>T	c.(634-636)ccA>ccT	p.P212P	PARD3B_ENST00000462231.1_Silent_p.P212P|PARD3B_ENST00000358768.2_Silent_p.P212P|PARD3B_ENST00000349953.3_Silent_p.P212P|PARD3B_ENST00000351153.1_Silent_p.P212P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	212	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.P212P(4)|p.P213P(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGAGGCCCATTGGGAATAC	0.433000													15	70					0	0	0.003163	0	0
DDX49	54555	broad.mit.edu	37	19	19033223	19033223	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:19033223G>A	ENST00000438170.2	+	6	627	c.215G>A	c.(214-216)cGc>cAc	p.R72H	DDX49_ENST00000247003.4_Missense_Mutation_p.R179H|DDX49_ENST00000599156.1_3'UTR|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	179	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.R179H(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GTGCCGGCCCGCAGGCAGACA	0.667000													7	16					0	0	0.003080	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182108	2182108	+	Missense_Mutation	SNP	C	C	G	rs80356664		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:2182108C>G	ENST00000397270.1	-	2	152	c.94G>C	c.(94-96)Ggc>Cgc	p.G32R	INS_ENST00000381330.4_Missense_Mutation_p.G32R|INS_ENST00000397262.1_Missense_Mutation_p.G32R|INS_ENST00000250971.3_Missense_Mutation_p.G32R|INS_ENST00000512523.1_Missense_Mutation_p.G32R	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		32					glucose metabolic process	extracellular region	hormone activity	p.G32R(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AGGTGTGAGCCGCACAGGTGT	0.652000													13	64					0	0	0.001855	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758166	25758166	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:25758166C>G	ENST00000586223.1	+	0	2600					NR_033892.1																						ctgcactgagccacaatatgg	0.592000													5	13					0	0	0.000602	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497613	1497613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:1497613C>A	ENST00000421627.2	+	2	888	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	331					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.Q274K(2)|p.Q296K(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACGCGCTGCAGAGCCCCTT	0.667000													28	121					7.01153e-11	1.05264e-10	0.007291	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976742	47976742	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:47976742G>A	ENST00000543600.1	-	2	523	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	PTCHD4_ENST00000339488.4_Missense_Mutation_p.L179F			Q6ZW05	CF138_HUMAN	patched domain containing 4	179						integral to membrane	hedgehog receptor activity	p.L179F(3)									TAGGTCTGGAGGTAGTAGGTG	0.502000													10	52					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113988108	113988108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:113988108G>T	ENST00000297405.5	-	7	1544	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q434K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q394K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	434						integral to membrane|plasma membrane		p.Q434K(2)|p.Q394K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTCTATCTGTTCAGCATGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	292					1.06647e-15	1.81176e-15	0.003755	1	0
AOC3	8639	broad.mit.edu	37	17	41003966	41003966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:41003966G>T	ENST00000308423.2	+	1	766	c.606G>T	c.(604-606)aaG>aaT	p.K202N		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	202					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.K202N(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCTTCTACAAGCACCGGGGAC	0.592000													13	79					7.03913e-09	9.87858e-09	0.001368	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587735	40587735	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:40587735G>A	ENST00000450241.2	-	5	432	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	ZNF780A_ENST00000414720.2_Missense_Mutation_p.R91W|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R75W|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R75W|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R76W|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R76W			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R76W(1)|p.R41W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCTGGATACCGTCTGCTTGTT	0.438000													14	118					0	0	0.007413	0	0
KCNK9	51305	broad.mit.edu	37	8	140715079	140715079	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:140715079T>C	ENST00000520439.1	-	1	220	c.157A>G	c.(157-159)Aac>Gac	p.N53D	KCNK9_ENST00000303015.1_Missense_Mutation_p.N53D			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	53						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.N53D(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CTGCTGATGTTGTACTTCCCC	0.632000													8	62					0	0	0.008291	0	0
ERBB2	2064	broad.mit.edu	37	17	37864639	37864639	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:37864639G>A	ENST00000406381.2	+	5	711	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ERBB2_ENST00000578199.1_Silent_p.Q67Q|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000269571.5_Silent_p.Q97Q|ERBB2_ENST00000584601.1_Silent_p.Q67Q|ERBB2_ENST00000584450.1_Silent_p.Q97Q|ERBB2_ENST00000540042.1_Silent_p.Q67Q|ERBB2_ENST00000541774.1_Silent_p.Q82Q|ERBB2_ENST00000540147.1_Silent_p.Q67Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	97					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.Q97Q(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCCACTGCAGAGGCTGCGGA	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			22	157					0	0	0.001882	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967412	106967412	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:106967412C>G	ENST00000390622.2	-	0	350																											ATCCCTTCCTCAGCCCTGGAA	0.557000													4	175					0	0	0.000248	0	0
RALYL	138046	broad.mit.edu	37	8	85774568	85774568	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:85774568C>G	ENST00000521268.1	+	6	1556	c.451C>G	c.(451-453)Cgt>Ggt	p.R151G	RALYL_ENST00000521695.1_Missense_Mutation_p.R151G|RALYL_ENST00000521376.1_Missense_Mutation_p.R62G|RALYL_ENST00000523850.1_Missense_Mutation_p.R78G|RALYL_ENST00000517638.1_Missense_Mutation_p.R164G|RALYL_ENST00000518566.1_Missense_Mutation_p.R140G|RALYL_ENST00000522455.1_Missense_Mutation_p.R151G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							identical protein binding|nucleotide binding|RNA binding	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502000													11	36					0	0	0.000978	0	0
FAM27L	284123	broad.mit.edu	37	17	21825370	21825370	+	RNA	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:21825370C>T	ENST00000426869.3	+	0	74					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		aaaccactccctgaggcttcg	0.617000													8	12					0	0	0.006214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741088	146741088	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:146741088G>T	ENST00000361727.3	+	4	1008	c.492G>T	c.(490-492)ctG>ctT	p.L164L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	164	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L164L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGTGCCTCTGGATTGGAATG	0.443000										HNSCC(39;0.1)			21	197					5.45024e-15	9.09939e-15	0.003330	1	0
SLC6A5	9152	broad.mit.edu	37	11	20623178	20623178	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:20623178G>T	ENST00000525748.1	+	2	780	c.507G>T	c.(505-507)gtG>gtT	p.V169V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V169V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCACGTCCGTGCTCCCGGGCA	0.657000													6	52					8.12818e-05	9.98409e-05	0.001984	1	0
AGAP5	729092	broad.mit.edu	37	10	75435611	75435611	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:75435611C>T	ENST00000443782.2	-	7	863	c.738G>A	c.(736-738)ccG>ccA	p.P246P	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.P269P			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	269					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.P246P(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CATGATTCTCCGGGGCTTTCC	0.537000													46	248					0	0	0.003610	0	0
SGCA	6442	broad.mit.edu	37	17	48245036	48245036	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:48245036A>T	ENST00000262018.3	+	3	287	c.251A>T	c.(250-252)cAc>cTc	p.H84L	SGCA_ENST00000451235.2_Intron|SGCA_ENST00000543315.1_Missense_Mutation_p.H84L|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Missense_Mutation_p.H84L	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	84					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.H84L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGCAGCCCCCACCACCCTGGC	0.667000													15	69					0	0	0.004990	0	0
C1orf226	400793	broad.mit.edu	37	1	162353098	162353098	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:162353098G>A	ENST00000458626.2	+	2	616	c.444G>A	c.(442-444)ctG>ctA	p.L148L	C1orf226_ENST00000426197.2_Silent_p.L191L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	148								p.L191L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCAGCAGTCTGGAGTATGGGA	0.622000													8	33					0	0	0.004482	0	0
WDPCP	51057	broad.mit.edu	37	2	63349192	63349192	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:63349192C>A	ENST00000409120.1	-	12	5165		c.e12-1		WDPCP_ENST00000398544.3_Splice_Site|WDPCP_ENST00000272321.7_Splice_Site|WDPCP_ENST00000409199.1_Splice_Site			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector						cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCTGATTTCCTGCAAATAAA	0.269000													16	107					1.02788e-11	1.57573e-11	0.004990	1	0
MARCH3	115123	broad.mit.edu	37	5	126253786	126253786	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:126253786C>G	ENST00000308660.5	-	2	592	c.78G>C	c.(76-78)acG>acC	p.T26T	MARCH3_ENST00000515241.1_Silent_p.T26T|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	26					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	p.T26T(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AATCCTCCACCGTCTTCACCA	0.572000													5	45					0	0	0.001984	0	0
POT1	25913	broad.mit.edu	37	7	124475408	124475408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:124475408C>G	ENST00000357628.3	-	15	2028	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	POT1_ENST00000393329.1_Missense_Mutation_p.R346T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353000													26	169					0	0	0.007291	0	0
GLP2R	9340	broad.mit.edu	37	17	9792900	9792900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:9792900G>T	ENST00000262441.5	+	13	2053	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	GLP2R_ENST00000574745.1_Missense_Mutation_p.G334C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	514					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G514C(3)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGGGGAGCTGGGCGCCCAGCC	0.637000													14	47					4.3838e-07	5.76242e-07	0.001855	1	0
NRXN1	9378	broad.mit.edu	37	2	50765774	50765774	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:50765774C>A	ENST00000404971.1	-	11	3219	c.1879_splice	c.e11-1	p.G627_splice	NRXN1_ENST00000405472.3_Splice_Site_p.G579_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G587_splice|NRXN1_ENST00000402717.3_Splice_Site_p.G579_splice|NRXN1_ENST00000401669.2_Splice_Site_p.G587_splice|NRXN1_ENST00000406859.3_Splice_Site_p.G587_splice|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	587	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.?(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGAAATGGTACCTATTTCAAA	0.463000													11	81					0.000673444	0.000803431	0.008291	1	0
CCDC28A	25901	broad.mit.edu	37	6	139106400	139106400	+	Missense_Mutation	SNP	G	G	A	rs143442772		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:139106400G>A	ENST00000332797.6	+	4	784	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	210								p.R210Q(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAACATGTTCGGGGAATGCAG	0.403000													27	143					0	0	0.005443	0	0
PAX7	5081	broad.mit.edu	37	1	18960982	18960982	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:18960982C>G	ENST00000420770.2	+	2	354	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	PAX7_ENST00000375375.3_Missense_Mutation_p.Q91E|PAX7_ENST00000400661.3_Missense_Mutation_p.Q91E	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	91	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q91E(4)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TTGCCGCTACCAGGAGACCGG	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								9	67					0	0	0.001368	0	0
DYDC2	84332	broad.mit.edu	37	10	82122230	82122230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:82122230G>T	ENST00000372199.1	+	4	629	c.31G>T	c.(31-33)Gga>Tga	p.G11*	DYDC2_ENST00000372198.1_Nonsense_Mutation_p.G25*|DYDC2_ENST00000372197.1_Nonsense_Mutation_p.G11*|DYDC2_ENST00000444807.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000256039.2_Nonsense_Mutation_p.G11*			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	11							protein binding	p.G11*(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAGGTGCTTTGGAAATTGCCT	0.443000													23	95					7.41877e-09	1.03623e-08	0.001882	1	0
LTBP2	4053	broad.mit.edu	37	14	75052556	75052556	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:75052556C>A	ENST00000261978.4	-	3	1217		c.e3+1		LTBP2_ENST00000556690.1_Splice_Site|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGGGACTTACCCAGCTGGTG	0.647000													16	58					3.41278e-10	5.08417e-10	0.004990	1	0
CYP4F2	8529	broad.mit.edu	37	19	16003139	16003139	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:16003139C>G	ENST00000221700.5	-	5	600	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E20Q|CYP4F2_ENST00000592328.1_Missense_Mutation_p.E169Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	169				E -> D (in Ref. 7; AAH67440).	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.E169Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACACTCTCATTGAAAATC	0.507000													25	171					0	0	0.005443	0	0
CSMD3	114788	broad.mit.edu	37	8	113304844	113304844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:113304844C>G	ENST00000297405.5	-	55	8954	c.8710G>C	c.(8710-8712)Ggg>Cgg	p.G2904R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2834R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2735R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2864R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2904	Sushi 19.					integral to membrane|plasma membrane		p.G2904R(2)|p.G2864R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAGATACCCAATATTGCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	242					0	0	0.002299	0	0
FAT3	120114	broad.mit.edu	37	11	92531802	92531802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:92531802G>A	ENST00000298047.6	+	9	5640	c.5623G>A	c.(5623-5625)Gat>Aat	p.D1875N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1875N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1725N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1875	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D1875N(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGTGACAGATGTGAATGA	0.453000										TCGA Ovarian(4;0.039)			8	60					0	0	0.003080	0	0
PRMT1	3276	broad.mit.edu	37	19	50188237	50188237	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:50188237G>A	ENST00000532489.1	+	8	1070	c.564G>A	c.(562-564)gaG>gaA	p.E188E	PRMT1_ENST00000454376.2_Silent_p.E234E|PRMT1_ENST00000391851.4_Silent_p.E216E			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	215						cytoplasm	protein methyltransferase activity	p.E210E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCATTAAGGAGCCCCTAGTGG	0.612000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	68					0	0	0.004990	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504896	95504896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:95504896T>C	ENST00000297591.5	-	21	4867	c.4792A>G	c.(4792-4794)Acc>Gcc	p.T1598A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1598					mRNA processing|RNA splicing	nucleus		p.T1598A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTATAAAGGTCTCATGCTTG	0.368000													29	206					0	0	0.008361	0	0
PACSIN3	29763	broad.mit.edu	37	11	47204070	47204070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:47204070C>A	ENST00000539589.1	-	4	437	c.95G>T	c.(94-96)gGg>gTg	p.G32V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G32V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	32	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.G32V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAGCCGGTGCCCGTCCTCCAC	0.652000													16	121					2.48551e-13	3.97818e-13	0.004990	1	0
POTEA	340441	broad.mit.edu	37	8	43157198	43157198	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:43157198C>G	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.Q260E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTATTTTCTCAAGATGTATT	0.318000													11	98					0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10428361	10428361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10428361C>A	ENST00000245503.5	-	34	5068	c.4684G>T	c.(4684-4686)Gga>Tga	p.G1562*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.G1562*|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1562					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1562*(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGATCTTTCCCTCTTCATGT	0.403000													27	160					2.09667e-21	3.7714e-21	0.003755	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735071	37735071	+	Splice_Site	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:37735071T>G	ENST00000330843.4	-	2	384		c.e2-2		RAB11FIP1_ENST00000522727.1_Splice_Site|RAB11FIP1_ENST00000287263.4_Splice_Site|RAB11FIP1_ENST00000524118.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)						protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTATACCACCTGAAAGGAGAA	0.463000													14	76					0	0	0.003163	0	0
ERCC5	2073	broad.mit.edu	37	13	103520504	103520504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:103520504G>T	ENST00000355739.4	+	12	3998	c.2575G>T	c.(2575-2577)Gga>Tga	p.G859*	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.W1284L|ERCC5_ENST00000375954.1_Nonsense_Mutation_p.G92*	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTATTTGCTTGGAAGTGATTA	0.343000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	152					0.00448238	0.00523997	0.004482	1	0
ANO6	196527	broad.mit.edu	37	12	45782068	45782068	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:45782068G>A	ENST00000320560.8	+	11	1492	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	ANO6_ENST00000423947.3_Silent_p.V451V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.V430V|ANO6_ENST00000441606.2_Silent_p.V412V|ANO6_ENST00000425752.2_Silent_p.V430V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	430					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.V430V(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCACGTAGTGATAAATGAGA	0.463000													46	165					0	0	0.003610	0	0
TMEM86A	144110	broad.mit.edu	37	11	18722551	18722551	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:18722551C>A	ENST00000280734.2	+	2	189	c.93C>A	c.(91-93)ccC>ccA	p.P31P	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	31						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTGGCTGCCCTCATCTAGCC	0.587000													6	448					2.0095e-06	2.5773e-06	0.001984	1	0
TDRD5	163589	broad.mit.edu	37	1	179621246	179621246	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:179621246G>A	ENST00000444136.1	+	13	2324	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E692K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E692K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	692					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E692K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTCTTGACAGAACTGGGTTA	0.413000													20	121					0	0	0.001882	0	0
C4orf17	84103	broad.mit.edu	37	4	100451036	100451036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:100451036C>A	ENST00000514652.1	+	5	821	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	C4orf17_ENST00000326581.4_Missense_Mutation_p.S156Y|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	156								p.S156Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GGCTCCTGTTCTTCAGGGATG	0.368000													11	104					9.70103e-10	1.40556e-09	0.008291	1	0
RSBN1	54665	broad.mit.edu	37	1	114310969	114310969	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:114310969G>A	ENST00000261441.5	-	5	1764	c.1701C>T	c.(1699-1701)acC>acT	p.T567T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	567						nucleus		p.T567T(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTCACTGGTCCGAGGTA	0.433000													11	92					0	0	0.008291	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384244	236384244	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:236384244G>A	ENST00000354619.5	-	15	1432	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	411					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.L411L(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AATATCTTCAGGGCAGTTCCT	0.323000													8	79					0	0	0.003080	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:140562928C>G	ENST00000361016.2	+	1	1949	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000													23	150					0	0	0.002299	0	0
P2RY8	286530	broad.mit.edu	37	X	1584949	1584949	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:1584949T>C	ENST00000381297.4	-	2	713	c.503A>G	c.(502-504)cAc>cGc	p.H168R		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	168						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.H168R(1)		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)				GCCCAGGGCGTGCACCGGGTA	0.672000			T	CRLF2	"""B-ALL, Downs associated ALL"""								6	62					0	0	0.001168	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324130	61324130	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:61324130G>A	ENST00000283752.5	-	7	846	c.703C>T	c.(703-705)Cca>Tca	p.P235S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	235					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P235S(2)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTTTGTATGGTATTTCCAGG	0.408000													11	179					0	0	0.001368	0	0
CHD9	80205	broad.mit.edu	37	16	53330938	53330938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:53330938A>T	ENST00000566029.1	+	30	5790	c.5581A>T	c.(5581-5583)Aga>Tga	p.R1861*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1861*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1861*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R1861*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACCCTGACAGAGGCCAATT	0.358000													39	122					0	0	0.002522	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165312	161165312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:161165312C>A	ENST00000367996.4	-	4	1632	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	402	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.E402*(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCAGGGCTCCTCAGGATCC	0.547000													36	291					9.8876e-21	1.75143e-20	0.004878	1	0
MARK1	4139	broad.mit.edu	37	1	220825386	220825386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:220825386G>T	ENST00000402574.1	+	15	2227	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	MARK1_ENST00000366917.4_Missense_Mutation_p.V544F|MARK1_ENST00000366918.4_Missense_Mutation_p.V522F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	544					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V544F(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCCTCTGCTGTCCCCTCAGC	0.498000													17	147					1.67942e-08	2.31767e-08	0.006122	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587733	40587733	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:40587733C>A	ENST00000450241.2	-	5	434	c.123G>T	c.(121-123)cgG>cgT	p.R41R	ZNF780A_ENST00000414720.2_Silent_p.R91R|ZNF780A_ENST00000340963.5_Silent_p.R75R|ZNF780A_ENST00000595687.2_Silent_p.R75R|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.R76R|ZNF780A_ENST00000594395.1_Silent_p.R76R			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACCTGGATACCGTCTGCTTG	0.448000													15	115					2.39187e-15	4.01641e-15	0.008871	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156695	55156695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:55156695G>T	ENST00000257290.5	+	22	3427	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E792D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1032					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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	p.E1032D(2)		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)	CTGAGGAGGAGGACCTGGGCA	0.587000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	168					1.42536e-11	2.17929e-11	0.004656	1	0
SLC6A15	55117	broad.mit.edu	37	12	85279239	85279239	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:85279239A>T	ENST00000450363.3	-	4	1007	c.549T>A	c.(547-549)ccT>ccA	p.P183P	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Silent_p.P183P|SLC6A15_ENST00000552192.1_Silent_p.P76P	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	183					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P183P(4)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCACCAAAGGACACTGAT	0.368000													32	87					0	0	0.001786	0	0
NRXN1	9378	broad.mit.edu	37	2	50765775	50765775	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:50765775C>A	ENST00000404971.1	-	11	3219		c.e11-1		NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.?(6)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAATGGTACCTATTTCAAAG	0.468000													11	79					0.000673444	0.000803431	0.008291	1	0
ARGLU1	55082	broad.mit.edu	37	13	107211830	107211830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:107211830C>T	ENST00000400198.3	-	2	767	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ARGLU1_ENST00000375926.1_Silent_p.K24K	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	175	Glu-rich.							p.E175K(2)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGCTCGAGTTCTTCGAGCAAC	0.488000													24	139					0	0	0.003330	0	0
TICRR	90381	broad.mit.edu	37	15	90128938	90128938	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:90128938G>T	ENST00000268138.7	+	4	1281		c.e4-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator									p.?(2)									TTCTCACGTAGGTTGCTGATG	0.448000													9	64					7.48243e-07	9.7912e-07	0.006214	1	0
APMAP	57136	broad.mit.edu	37	20	24964571	24964571	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:24964571C>A	ENST00000217456.2	-	2	470	c.180G>T	c.(178-180)ctG>ctT	p.L60L	APMAP_ENST00000447138.1_Silent_p.L60L	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein									p.L60L(2)									GAGATTCCAGCAGCATCATGG	0.502000													33	151					5.09552e-08	6.94952e-08	0.002096	1	0
OMD	4958	broad.mit.edu	37	9	95179363	95179363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:95179363G>T	ENST00000375550.4	-	2	753	c.478C>A	c.(478-480)Ctt>Att	p.L160I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	160					cell adhesion	proteinaceous extracellular matrix		p.L160I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GATTTAGGAAGAGGAAATGGA	0.348000			T	USP6	aneurysmal bone cysts								28	147					1.77063e-15	2.99923e-15	0.005443	1	0
RGPD3	653489	broad.mit.edu	37	2	107041047	107041047	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:107041047A>T	ENST00000409886.3	-	20	3463	c.3376T>A	c.(3376-3378)Tca>Aca	p.S1126T	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1126	RanBD1 1.				intracellular transport		binding	p.S1126T(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTCTATCTGATCCAGAGAGG	0.433000													38	480					0	0	0.002852	0	0
CD1E	913	broad.mit.edu	37	1	158325684	158325684	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158325684T>C	ENST00000444681.2	+	3	689	c.396T>C	c.(394-396)caT>caC	p.H132H	CD1E_ENST00000452291.2_Silent_p.H42H|CD1E_ENST00000368154.1_Silent_p.H42H|CD1E_ENST00000368163.3_Silent_p.H231H|CD1E_ENST00000368165.3_Silent_p.H141H|CD1E_ENST00000368156.1_Silent_p.H141H|CD1E_ENST00000368160.3_Silent_p.H231H|CD1E_ENST00000368164.3_Silent_p.H42H|CD1E_ENST00000368166.3_Silent_p.H42H|CD1E_ENST00000434258.1_Silent_p.H229H|CD1E_ENST00000368155.3_Silent_p.H141H|CD1E_ENST00000368157.1_Silent_p.H42H|CD1E_ENST00000368161.3_Silent_p.H231H|CD1E_ENST00000368167.3_Silent_p.H231H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	231					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.H231H(2)		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)					TTGTGTGCCATGTCTCAGGAT	0.582000													48	112					0	0	0.003610	0	0
MS4A6E	245802	broad.mit.edu	37	11	60102398	60102398	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:60102398C>G	ENST00000300182.4	+	1	95	c.30C>G	c.(28-30)acC>acG	p.T10T		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	10			T -> A (in dbSNP:rs2304934).			integral to membrane	receptor activity	p.T10T(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CCAATGAGACCATCATAATGC	0.443000													26	158					0	0	0.004656	0	0
CHD4	1108	broad.mit.edu	37	12	6697022	6697022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:6697022C>G	ENST00000309577.6	-	24	3722	c.3559G>C	c.(3559-3561)Gtg>Ctg	p.V1187L	CHD4_ENST00000544484.1_Missense_Mutation_p.V1184L|CHD4_ENST00000544040.1_Missense_Mutation_p.V1180L|CHD4_ENST00000357008.2_Missense_Mutation_p.V1187L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1187	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V1187L(4)		central_nervous_system(2)	2						TTCTTTGCCACCTGCGTGATG	0.517000													12	193					0	0	0.000978	0	0
OR4P4	81300	broad.mit.edu	37	11	55405957	55405957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:55405957C>G	ENST00000314612.2	+	1	124	c.124C>G	c.(124-126)Ctc>Gtc	p.L42V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L42V(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGGAAACTTACTCATAATGAT	0.383000													39	88					0	0	0.004878	0	0
THADA	63892	broad.mit.edu	37	2	43801863	43801863	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:43801863C>T	ENST00000403856.1	-	12	1488	c.1341G>A	c.(1339-1341)ttG>ttA	p.L447L	THADA_ENST00000415080.2_Silent_p.L157L|THADA_ENST00000405006.4_Silent_p.L447L|THADA_ENST00000405975.2_Silent_p.L447L|THADA_ENST00000330266.7_Silent_p.L157L|THADA_ENST00000404790.1_Silent_p.L447L|THADA_ENST00000402360.2_Silent_p.L447L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	447							binding	p.L447L(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATGCCATTCCAATCGTAAAA	0.403000													23	123					0	0	0.002780	0	0
OVCH1	341350	broad.mit.edu	37	12	29598250	29598250	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:29598250C>T	ENST00000318184.5	-	23	2841	c.2842G>A	c.(2842-2844)Ggt>Agt	p.G948S	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	948	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G948S(3)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAAATGCACCTCGTACAAGG	0.373000													32	101					0	0	0.002836	0	0
FAM124B	79843	broad.mit.edu	37	2	225266018	225266018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:225266018G>T	ENST00000389874.3	-	1	693	c.468C>A	c.(466-468)taC>taA	p.Y156*	FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Y156*|FAM124B_ENST00000409685.3_Nonsense_Mutation_p.Y156*	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	156							protein binding	p.Y156*(4)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGATCATCTCGTAGAGTCTGA	0.522000													16	132					6.94344e-10	1.01106e-09	0.006122	1	0
GLI2	2736	broad.mit.edu	37	2	121726405	121726405	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:121726405C>G	ENST00000452319.1	+	6	819	c.759C>G	c.(757-759)ccC>ccG	p.P253P	GLI2_ENST00000361492.4_Silent_p.P253P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	253					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P253P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCTCACCCAACTCGCTAG	0.687000													19	135					0	0	0.007413	0	0
BCHE	590	broad.mit.edu	37	3	165548428	165548428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:165548428G>T	ENST00000264381.3	-	2	560	c.394C>A	c.(394-396)Cca>Aca	p.P132T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	132					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.P132T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GCATTTTTTGGTTTAGGTGCT	0.398000													38	141					1.36161e-19	2.39727e-19	0.004289	1	0
C9orf64	84267	broad.mit.edu	37	9	86559772	86559772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:86559772G>A	ENST00000376344.3	-	3	946	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.Q103*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	244								p.Q244*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAAGAACCTGAGGTAATCTA	0.403000													27	109					0	0	0.006320	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784480	27784480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:27784480G>T	ENST00000261588.4	+	23	4278	c.4259G>T	c.(4258-4260)gGc>gTc	p.G1420V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1420								p.G1420V(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCCTCACCGGCCTGGAGCTG	0.498000													14	36					1.3612e-06	1.75746e-06	0.003163	1	0
C10orf90	118611	broad.mit.edu	37	10	128118409	128118409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:128118409G>C	ENST00000284694.7	-	7	2028	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	C10orf90_ENST00000480379.1_Missense_Mutation_p.F40L|C10orf90_ENST00000544758.1_Missense_Mutation_p.F733L|C10orf90_ENST00000356858.3_Missense_Mutation_p.F589L|C10orf90_ENST00000454341.1_Missense_Mutation_p.F539L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	636								p.F636L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTTGGGTTTGAACAAGTTAT	0.378000													18	106					0	0	0.001523	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667825	60667825	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:60667825C>A	ENST00000400324.4	-	4	652	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000377908.2_Silent_p.R133R|DIAPH3_ENST00000400330.1_Silent_p.R144R|DIAPH3_ENST00000400319.1_Silent_p.R74R|DIAPH3_ENST00000267215.4_Silent_p.R144R	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTCCTTTTCCCGCAATGGTG	0.333000													6	73					8.12818e-05	9.98409e-05	0.001984	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597000													28	123					0	0	0.005443	0	0
GFRAL	389400	broad.mit.edu	37	6	55223728	55223728	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:55223728G>A	ENST00000340465.2	+	6	830	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	248						integral to membrane	receptor activity	p.V248V(2)		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)			GGCAGCGTGTGACTAGAAAGT	0.373000													21	182					0	0	0.002780	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825920	146825920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:146825920T>G	ENST00000361727.3	+	7	1591	c.1075T>G	c.(1075-1077)Tca>Gca	p.S359A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	359	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S359A(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTAGAGCCCTCAAATGTGGT	0.358000										HNSCC(39;0.1)			24	195					0	0	0.003954	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123471	108123471	+	Splice_Site	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:108123471G>C	ENST00000374720.3	+	8	1007		c.e8-1		SLC44A1_ENST00000374724.1_Splice_Site|SLC44A1_ENST00000343170.7_Splice_Site|SLC44A1_ENST00000374723.1_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1							integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.?(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGTCTCCAGGAGGCACAGG	0.408000													17	124					0	0	0.004007	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013262	183013262	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:183013262T>A	ENST00000328913.3	-	13	1798	c.1501A>T	c.(1501-1503)Aaa>Taa	p.K501*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.K501*|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K501*(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCTGGGCTTTGGCCTACAGT	0.488000													35	101					0	0	0.006999	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													5	20					0	0	0.001168	0	0
KCNT2	343450	broad.mit.edu	37	1	196395118	196395118	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:196395118C>A	ENST00000367433.5	-	11	1086	c.984_splice	c.e11-1	p.D329_splice	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Splice_Site_p.D329_splice|KCNT2_ENST00000294725.8_Splice_Site_p.D329_splice|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	329						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D329Y(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATAATAATCCTATTCAAAA	0.318000													35	80					4.11147e-13	6.56254e-13	0.003755	1	0
OSBPL10	114884	broad.mit.edu	37	3	31871586	31871586	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:31871586T>A	ENST00000396556.2	-	4	797	c.675A>T	c.(673-675)gcA>gcT	p.A225A	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	225					lipid transport		lipid binding	p.A225A(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTCGGGCGGCTGCAGGCGACT	0.587000													11	66					0	0	0.000978	0	0
MYOM3	127294	broad.mit.edu	37	1	24433662	24433662	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:24433662C>T	ENST00000330966.7	-	4	468	c.306G>A	c.(304-306)cgG>cgA	p.R102R	MYOM3_ENST00000374434.3_Silent_p.R101R|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.R101R			Q5VTT5	MYOM3_HUMAN	myomesin 3	101								p.R101R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGAAGCCCACCCGCTTCTGCC	0.687000													3	17					0	0	0.000602	0	0
GHDC	84514	broad.mit.edu	37	17	40344425	40344425	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:40344425C>T	ENST00000301671.8	-	4	1164	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GHDC_ENST00000593209.1_Silent_p.R241R|GHDC_ENST00000587427.1_Silent_p.R241R|GHDC_ENST00000414034.3_Silent_p.R241R|GHDC_ENST00000436923.2_Silent_p.R241R|GHDC_ENST00000428494.2_Silent_p.R202R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	241						endoplasmic reticulum|nuclear envelope		p.R241R(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTAGGGCCTCCCGGAGCTCAG	0.657000													19	164					0	0	0.007413	0	0
NLRP2	55655	broad.mit.edu	37	19	55508760	55508760	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:55508760C>T	ENST00000543010.1	+	12	3098	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	NLRP2_ENST00000448584.2_Silent_p.V985V|NLRP2_ENST00000427260.2_Silent_p.V962V|NLRP2_ENST00000263437.6_Silent_p.V982V|NLRP2_ENST00000538819.1_Silent_p.V961V|NLRP2_ENST00000537859.1_Silent_p.V963V|NLRP2_ENST00000339757.7_Silent_p.V963V|NLRP2_ENST00000391721.4_Silent_p.V961V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	985					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V985V(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGCCTCGTCACTCTGGACC	0.542000													46	184					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	66					3.52763e-06	4.46526e-06	0.004990	1	0
TBC1D1	23216	broad.mit.edu	37	4	38097636	38097636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:38097636G>T	ENST00000261439.4	+	14	2678	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.E869*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	775						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TACAGTGTGGGAAAAGATGCT	0.413000													27	213					6.32553e-13	1.0014e-12	0.004656	1	0
IL1F10	84639	broad.mit.edu	37	2	113832364	113832364	+	Silent	SNP	C	C	T	rs34320972	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:113832364C>T	ENST00000393197.2	+	3	604	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_ENST00000341010.2_Silent_p.I61I|IL1F10_ENST00000337569.3_Silent_p.I61I	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	61						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I61I(2)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582000													10	180					0	0	0.000978	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:150840204C>G	ENST00000370357.4	+	13	1635	c.1390C>G	c.(1390-1392)Ctc>Gtc	p.L464V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	464						nucleus	signal transducer activity	p.L464V(4)|p.L464F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000													22	50					0	0	0.001882	0	0
CGNL1	84952	broad.mit.edu	37	15	57731244	57731244	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:57731244A>G	ENST00000281282.5	+	2	1125	c.1047A>G	c.(1045-1047)tcA>tcG	p.S349S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	349	Head.					myosin complex|tight junction	motor activity	p.S349S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATACAGGATCAATTCCTGGTG	0.428000													14	68					0	0	0.002450	0	0
TLN2	83660	broad.mit.edu	37	15	62993362	62993362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:62993362C>G	ENST00000561311.1	+	16	1875	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q549E			Q9Y4G6	TLN2_HUMAN	talin 2	549					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.Q549E(2)		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						AATCCATTCTCAAGTTGATGC	0.473000													23	80					0	0	0.002780	0	0
AMOT	154796	broad.mit.edu	37	X	112024171	112024171	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:112024171T>A	ENST00000371959.3	-	9	2415	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S	AMOT_ENST00000304758.1_Missense_Mutation_p.T397S|AMOT_ENST00000371958.1_Missense_Mutation_p.T574S|AMOT_ENST00000524145.1_Missense_Mutation_p.T806S|AMOT_ENST00000371962.1_Missense_Mutation_p.T574S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	806					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T806S(2)|p.T397S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGGGAGCCAGTCAGGGTGGAT	0.522000													64	142					0	0	0.003610	0	0
GFPT1	2673	broad.mit.edu	37	2	69556903	69556903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:69556903C>A	ENST00000357308.4	-	16	1688	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	GFPT1_ENST00000361060.4_Missense_Mutation_p.V486L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	504	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.V486L(2)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCAAACATCACAAGGGATACA	0.398000													20	126					2.27731e-05	2.84541e-05	0.001882	1	0
ASXL3	80816	broad.mit.edu	37	18	31319721	31319721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:31319721G>T	ENST00000269197.5	+	11	2353	c.2353G>T	c.(2353-2355)Gag>Tag	p.E785*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	785	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.E785*(1)|p.E492*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGAAAGATGAGTCTTCCGC	0.458000													8	49					7.93312e-07	1.03344e-06	0.002450	1	0
SLC12A2	6558	broad.mit.edu	37	5	127516628	127516628	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:127516628T>A	ENST00000262461.2	+	23	3343	c.3154T>A	c.(3154-3156)Tgt>Agt	p.C1052S	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.C1036S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1052					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.C1052S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAAAGACTGTAAGATCAG	0.328000													60	148					0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124345614	124345614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:124345614G>C	ENST00000409039.3	+	38	6476	c.6451G>C	c.(6451-6453)Gaa>Caa	p.E2151Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2151	AAA 2 (By similarity).				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)		GAGTGTCATAGAACTCTACGG	0.493000													4	117					0	0	0.001168	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814500	106814500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:106814500G>C	ENST00000407775.2	+	8	2440	c.2190G>C	c.(2188-2190)caG>caC	p.Q730H	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q461H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	730					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	p.Q730H(2)		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)			CTGCCATGCAGAGAACCATGC	0.522000													12	70					0	0	0.000978	0	0
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:135438316C>A	ENST00000394143.1	+	9	7210	c.6919C>A	c.(6919-6921)Cga>Aga	p.R2307R	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.R2102R|GPR112_ENST00000370652.1_Silent_p.R2307R|GPR112_ENST00000412101.1_Silent_p.R2102R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2307R(3)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTCATGGATCGAGCTATTGT	0.343000													15	41					9.16793e-09	1.2743e-08	0.004990	1	0
FOPNL	123811	broad.mit.edu	37	16	15967411	15967411	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:15967411C>A	ENST00000255759.6	-	4	414	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	FOPNL_ENST00000573429.1_Missense_Mutation_p.G153W|FOPNL_ENST00000573396.1_Intron|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000575744.1_Missense_Mutation_p.G63W|FOPNL_ENST00000575073.1_Intron	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	129					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	p.G129W(2)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AGTGAAGGCCCTTTCAGAAAT	0.418000													26	123					4.87955e-14	7.94124e-14	0.005443	1	0
FANK1	92565	broad.mit.edu	37	10	127685120	127685120	+	Splice_Site	SNP	C	C	T	rs141545587		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:127685120C>T	ENST00000368695.1	+	5	504	c.380_splice	c.e5-1	p.R128_splice	FANK1_ENST00000368693.1_Splice_Site_p.R134_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	134						cytoplasm|nucleus		p.R134C(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TTTCCCAAGCCGTGTTAAGGT	0.448000													44	271					0	0	0.003610	0	0
GDAP1	54332	broad.mit.edu	37	8	75275211	75275211	+	Missense_Mutation	SNP	A	A	G	rs146768052		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:75275211A>G	ENST00000220822.7	+	5	697	c.617A>G	c.(616-618)aAg>aGg	p.K206R	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.K138R	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	206	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			AAGTATTTGAAGAAAATTCTT	0.308000													6	182					0	0	0.001984	0	0
FRZB	2487	broad.mit.edu	37	2	183723563	183723563	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:183723563T>A	ENST00000295113.4	-	2	1088		c.e2-2			NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein						brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TAGGAAAATCTGAAAGGAGGT	0.348000													35	118					0	0	0.003271	0	0
VPS13B	157680	broad.mit.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:100205158C>G	ENST00000395996.1	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000358544.2_Silent_p.L796L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Silent_p.L796L|VPS13B_ENST00000357162.2_Silent_p.L796L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373000													5	172					0	0	0.000602	0	0
OR5L1	219437	broad.mit.edu	37	11	55579766	55579766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:55579766C>A	ENST00000333973.2	+	1	913	c.824C>A	c.(823-825)aCc>aAc	p.T275N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGTGGCCACCGTGTTCTAC	0.468000													24	79					2.98393e-07	3.94912e-07	0.002780	1	0
OR51L1	119682	broad.mit.edu	37	11	5020771	5020771	+	Missense_Mutation	SNP	C	C	A	rs150980273	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:5020771C>A	ENST00000321543.1	+	1	559	c.559C>A	c.(559-561)Cta>Ata	p.L187I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187I(2)		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)		CCAGGATGTTCTAAGATTATC	0.448000													33	172					5.91797e-21	1.05795e-20	0.002445	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:138764850G>C	ENST00000242351.5	-	4	1153	c.837C>G	c.(835-837)atC>atG	p.I279M	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I279M|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I279M	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582000													17	270					0	0	0.006122	0	0
NPAP1	23742	broad.mit.edu	37	15	24923924	24923924	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:24923924T>G	ENST00000329468.2	+	1	3384	c.2910T>G	c.(2908-2910)agT>agG	p.S970R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S970R(2)									ACAATGCAAGTGCTTTCCCCA	0.478000													16	94					0	0	0.004007	0	0
FAM83B	222584	broad.mit.edu	37	6	54805781	54805781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:54805781C>A	ENST00000306858.7	+	5	2128	c.2012C>A	c.(2011-2013)tCa>tAa	p.S671*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	671								p.S671*(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTGACAACTCAAAAGCCAAC	0.353000													12	98					6.40141e-05	7.91323e-05	0.000978	1	0
DROSHA	29102	broad.mit.edu	37	5	31526186	31526186	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:31526186C>A	ENST00000511367.2	-	4	1098	c.854_splice	c.e4+1	p.R285_splice	DROSHA_ENST00000344624.3_Splice_Site_p.R285_splice|DROSHA_ENST00000442743.1_Splice_Site_p.R285_splice|DROSHA_ENST00000513349.1_Splice_Site_p.R285_splice	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	285	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R285I(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCGGTTTACCTGCTCCGTTC	0.527000													34	110					3.11337e-16	5.35169e-16	0.002836	1	0
CDH7	1005	broad.mit.edu	37	18	63547963	63547963	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:63547963C>A	ENST00000397968.2	+	12	2617	c.2191C>A	c.(2191-2193)Cag>Aag	p.Q731K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q731K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	731					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q731K(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACTCCCTGCAGACATATGC	0.398000													32	145					1.39806e-14	2.30759e-14	0.008361	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:140346519G>A	ENST00000289269.5	+	1	700	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		56	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCGGCGCGCTCGTGGGCA	0.692000													5	10					0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	216251604	216251604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216251604C>G	ENST00000366943.2	-	27	5785	c.5399G>C	c.(5398-5400)tGg>tCg	p.W1800S	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W1800S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1800	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W1800S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTTTATTCCACTTTCCATT	0.433000										HNSCC(13;0.011)			160	517					0	0	0.003610	0	0
PTPN9	5780	broad.mit.edu	37	15	75766070	75766070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:75766070C>A	ENST00000306726.2	-	10	1680	c.1168G>T	c.(1168-1170)Gta>Tta	p.V390L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	390	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.V390L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCCATACCATGAGCCAG	0.443000													35	213					1.90571e-15	3.21865e-15	0.004289	1	0
MYO1C	4641	broad.mit.edu	37	17	1385813	1385813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:1385813T>A	ENST00000359786.5	-	5	910	c.586A>T	c.(586-588)Agc>Tgc	p.S196C	MYO1C_ENST00000575158.1_Missense_Mutation_p.S161C|MYO1C_ENST00000361007.2_Missense_Mutation_p.S161C|MYO1C_ENST00000438665.2_Missense_Mutation_p.S177C|MYO1C_ENST00000545534.2_Missense_Mutation_p.S172C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	196	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.S161C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAACCTGCTGGAGTTATCG	0.562000													16	61					0	0	0.007413	0	0
ITGA8	8516	broad.mit.edu	37	10	15688991	15688991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:15688991G>T	ENST00000378076.3	-	12	1414	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	354					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P354H(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACTTCTCTGGGGTTGCTCTC	0.507000													22	112					3.62473e-10	5.38611e-10	0.001882	1	0
SLC6A5	9152	broad.mit.edu	37	11	20668466	20668466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:20668466C>G	ENST00000525748.1	+	14	2329	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	686					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P686A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTTGTAACCCCAACCATTTT	0.408000													12	118					0	0	0.002450	0	0
ACER2	340485	broad.mit.edu	37	9	19424744	19424744	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:19424744G>T	ENST00000340967.2	+	3	296	c.270G>T	c.(268-270)caG>caT	p.Q90H	ACER2_ENST00000380376.1_Missense_Mutation_p.Q41H	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	90					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.Q90H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTGGGTCAGATGCTTGATG	0.433000													30	172					1.7881e-09	2.55255e-09	0.008361	1	0
FATE1	89885	broad.mit.edu	37	X	150889897	150889897	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:150889897A>T	ENST00000370350.3	+	3	350	c.265A>T	c.(265-267)Aga>Tga	p.R89*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	89						endoplasmic reticulum|integral to membrane		p.R89*(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAATGCTGAGAGAATCAGG	0.542000													24	77					0	0	0.003954	0	0
CYYR1	116159	broad.mit.edu	37	21	27945230	27945230	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:27945230T>A	ENST00000299340.4	-	1	373	c.30A>T	c.(28-30)ccA>ccT	p.P10P	CYYR1_ENST00000400043.3_Silent_p.P10P|CYYR1_ENST00000435845.2_Silent_p.P118P	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	10						integral to membrane		p.P10P(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAAGACCCCTGGACGCACGG	0.667000													17	98					0	0	0.001523	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508135	65508135	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:65508135C>T	ENST00000355045.2	-	2	276		c.e2+1			NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.?(2)									CAGAGCCTTACCTCTCAGACT	0.542000													47	498					0	0	0.003610	0	0
FNDC1	84624	broad.mit.edu	37	6	159654335	159654335	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:159654335T>A	ENST00000297267.9	+	11	2991	c.2791T>A	c.(2791-2793)Tcc>Acc	p.S931T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S868T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	931						extracellular region		p.S931T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAACCCCAAATCCACAGGGGC	0.612000													8	45					0	0	0.003080	0	0
DNAH1	25981	broad.mit.edu	37	3	52430796	52430796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:52430796G>A	ENST00000420323.2	+	72	11854	c.11593G>A	c.(11593-11595)Gat>Aat	p.D3865N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3930	AAA 6 (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	p.D3929N(2)|p.D3865N(2)		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)		GGACGAATATGATGACATCCC	0.582000													55	251					0	0	0.003610	0	0
C17orf66	256957	broad.mit.edu	37	17	34192287	34192287	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:34192287G>T	ENST00000311880.2	-	3	400	c.252C>A	c.(250-252)caC>caA	p.H84Q	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.H84Q	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	84							binding	p.H84Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CATACAGGTCGTGCCAGTGCG	0.507000													7	75					0.000157383	0.000190499	0.003080	1	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:32631037G>T	ENST00000266086.4	-	8	719	c.708C>A	c.(706-708)taC>taA	p.Y236*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000													50	307					4.86159e-25	8.9955e-25	0.003610	1	0
ITGAD	3681	broad.mit.edu	37	16	31424230	31424230	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31424230C>A	ENST00000389202.2	+	15	1828	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	593					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L593L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCAGGACCTCACCCAGGATG	0.652000													34	123					1.45844e-13	2.34075e-13	0.002836	1	0
OR1N1	138883	broad.mit.edu	37	9	125289132	125289132	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:125289132C>A	ENST00000304880.2	-	1	440	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147C(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGAGGACCCAGCACAATG	0.537000													13	82					3.27435e-08	4.47623e-08	0.002450	1	0
F13A1	2162	broad.mit.edu	37	6	6224933	6224933	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:6224933C>A	ENST00000264870.3	-	7	1224	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	320					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G320V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTAAAGACACCAGCAAAAAC	0.418000													29	224					1.39806e-14	2.30759e-14	0.008361	1	0
GRID2	2895	broad.mit.edu	37	4	94436452	94436452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:94436452G>T	ENST00000282020.4	+	13	2341	c.2083G>T	c.(2083-2085)Gga>Tga	p.G695*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.G600*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	695					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G695*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCGCATGAAAGGACTGAATCC	0.488000													15	110					7.93312e-07	1.03344e-06	0.002450	1	0
COL24A1	255631	broad.mit.edu	37	1	86488678	86488678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:86488678G>A	ENST00000370571.2	-	15	2428	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P688S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	688	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent	p.P688S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTCCCACAGGGCCAACACTG	0.368000													6	47					0	0	0.001984	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250954	142250954	+	RNA	SNP	G	G	T	rs361438		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:142250954G>T	ENST00000390360.3	-	0	113																											CTGCTGCCAGGATCTGAGATG	0.522000													23	126					1.10923e-09	1.59127e-09	0.002780	1	0
PTPRC	5788	broad.mit.edu	37	1	198668802	198668802	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:198668802C>T	ENST00000367376.2	+	5	573	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Silent_p.L136L|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Silent_p.L134L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	134					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L134L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGCAAAACTCAACCCTACCC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	360					0	0	0.008740	0	0
COL16A1	1307	broad.mit.edu	37	1	32163594	32163594	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:32163594G>T	ENST00000373672.3	-	6	1086	c.570C>A	c.(568-570)tcC>tcA	p.S190S	COL16A1_ENST00000373668.3_Silent_p.S190S|COL16A1_ENST00000271069.6_Silent_p.S190S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	190	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.S190S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GAGGCTGGGAGGAGGCTGAGC	0.617000													6	68					2.0095e-06	2.5773e-06	0.001984	1	0
GPRASP2	114928	broad.mit.edu	37	X	101972152	101972152	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:101972152G>A	ENST00000543253.1	+	5	3274	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q	GPRASP2_ENST00000535209.1_Silent_p.Q785Q|GPRASP2_ENST00000332262.5_Silent_p.Q785Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.Q785Q(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGTTTCAGAATATCAGTA	0.303000													26	130					0	0	0.003330	0	0
ITGA11	22801	broad.mit.edu	37	15	68631901	68631901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:68631901G>A	ENST00000423218.2	-	11	1308	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P405S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCGCGGAGAGGAATGACCTTC	0.607000													9	62					0	0	0.006214	0	0
HPS4	89781	broad.mit.edu	37	22	26860726	26860726	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:26860726T>A	ENST00000398145.2	-	11	1486	c.870A>T	c.(868-870)acA>acT	p.T290T	HPS4_ENST00000336873.5_Silent_p.T290T|HPS4_ENST00000402105.3_Silent_p.T285T|HPS4_ENST00000398141.1_Silent_p.T303T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	290					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.T290T(2)|p.T303T(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGGGCAGATGTGCTCCCAC	0.572000									Hermansky-Pudlak syndrome				16	113					0	0	0.003163	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139092	126139092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:126139092A>T	ENST00000299308.3	+	9	3081	c.3073A>T	c.(3073-3075)Aag>Tag	p.K1025*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.K537*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1025						integral to membrane		p.K1025*(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAGAGAGTCAAGTTCACTTC	0.458000													32	86					0	0	0.002096	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885024	50885024	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:50885024C>T	ENST00000404795.3	-	3	1334	c.942G>A	c.(940-942)cgG>cgA	p.R314R	DMRTA2_ENST00000418121.1_Silent_p.R314R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R314R(2)		endometrium(1)|lung(4)|pancreas(1)	6						CCAGCGGCGTCCGCTGCCGTG	0.697000													9	36					0	0	0.004482	0	0
NYAP2	57624	broad.mit.edu	37	2	226447291	226447291	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:226447291C>T	ENST00000272907.6	+	4	1571	c.1158C>T	c.(1156-1158)caC>caT	p.H386H	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	386	Pro-rich.							p.H386H(1)									TGCCGTCCCACGTCCCCGGCC	0.682000													3	11					0	0	0.004672	0	0
GMIP	51291	broad.mit.edu	37	19	19749278	19749278	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:19749278T>A	ENST00000203556.4	-	8	688	c.551A>T	c.(550-552)aAa>aTa	p.K184I	GMIP_ENST00000445806.2_Missense_Mutation_p.K184I|GMIP_ENST00000587238.1_Missense_Mutation_p.K184I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	184					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.K184I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAGTCCGTTTGGCGGCGAG	0.592000													8	35					0	0	0.001368	0	0
DHX32	55760	broad.mit.edu	37	10	127569217	127569217	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:127569217T>A	ENST00000284690.3	-	1	667	c.177A>T	c.(175-177)agA>agT	p.R59S	DHX32_ENST00000284688.6_Missense_Mutation_p.R59S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	59						mitochondrion|nucleus	ATP binding|helicase activity	p.R59S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAGATCTTCTCTTTCTTTCA	0.383000													21	128					0	0	0.001523	0	0
OR51D1	390038	broad.mit.edu	37	11	4661252	4661252	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:4661252A>G	ENST00000357605.2	+	1	308	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M78V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCCTGGCCATGCTTTCCAC	0.512000													13	102					0	0	0.003163	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197502	95197502	+	Silent	SNP	G	G	T	rs111425618		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:95197502G>T	ENST00000354268.4	+	15	1894	c.1821G>T	c.(1819-1821)gcG>gcT	p.A607A	SMARCAD1_ENST00000509418.1_Silent_p.A177A|SMARCAD1_ENST00000457823.2_Silent_p.A607A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	607	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.A607A(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATAACTGTGCGATCAGCAGTT	0.368000													11	54					1.5842e-08	2.19671e-08	0.001855	1	0
TPX2	22974	broad.mit.edu	37	20	30388777	30388777	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:30388777A>G	ENST00000340513.4	+	19	2774	c.2246A>G	c.(2245-2247)cAt>cGt	p.H749R	TPX2_ENST00000300403.6_Missense_Mutation_p.H713R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	713					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.H713R(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTGCAGGTGCATAAGGCAAAT	0.413000													141	298					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28483346	28483346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:28483346C>A	ENST00000261609.7	-	25	3874	c.3766G>T	c.(3766-3768)Gac>Tac	p.D1256Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1256	Cytochrome b5 heme-binding.				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	p.D1256Y(2)		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)		ACCACTGGGTCTTCCCCTGCA	0.458000													11	80					0.00010058	0.000122509	0.001368	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43796717	43796717	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:43796717T>C	ENST00000291532.3	-	11	2082	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.Y373C|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.Y375C|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.Y460C	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	376	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	p.Y376C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GATGCCACCGTACACGTCCCT	0.647000													21	242					0	0	0.002780	0	0
ASIC4	55515	broad.mit.edu	37	2	220397143	220397143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:220397143G>T	ENST00000358078.4	+	4	1357	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ASIC4_ENST00000347842.3_Missense_Mutation_p.R448L|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	448						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.R448L(2)									TGCCGGCTGCGCTGTGAAAAG	0.672000													11	61					0.000978159	0.00116219	0.000978	1	0
SSX3	10214	broad.mit.edu	37	X	48209509	48209509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:48209509G>T	ENST00000298396.2	-	6	431	c.379C>A	c.(379-381)Cca>Aca	p.P127T	SSX3_ENST00000376893.3_Missense_Mutation_p.P127T|SSX3_ENST00000376895.1_Missense_Mutation_p.P39T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P127T(4)		endometrium(3)|large_intestine(1)|lung(9)	13						GATGCTTCTGGCACTTCCTTC	0.438000													84	214					2.16136e-38	4.1172e-38	0.003610	1	0
DUSP6	1848	broad.mit.edu	37	12	89743161	89743161	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:89743161T>A	ENST00000279488.7	-	3	2247	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	DUSP6_ENST00000547291.1_Missense_Mutation_p.Q214L|DUSP6_ENST00000308385.6_Missense_Mutation_p.Q193L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	339	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Q339L(2)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTCCAGCAGCTGACCCATGAA	0.478000													64	181					0	0	0.003610	0	0
BEST4	266675	broad.mit.edu	37	1	45253101	45253101	+	Nonsense_Mutation	SNP	G	G	A	rs138830699		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:45253101G>A	ENST00000372207.3	-	2	189	c.190C>T	c.(190-192)Cag>Tag	p.Q64*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	64						chloride channel complex|plasma membrane	chloride channel activity	p.Q64*(2)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGGGCCACCTGAGCATACACG	0.587000													55	363					0	0	0.003610	0	0
OR2M5	127059	broad.mit.edu	37	1	248308701	248308701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:248308701C>A	ENST00000366476.1	+	1	252	c.252C>A	c.(250-252)aaC>aaA	p.N84K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N84K(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGGCCTTCAACTACTTGTCTG	0.493000													182	486					3.77185e-81	7.25644e-81	0.003610	1	0
MRC2	9902	broad.mit.edu	37	17	60754829	60754829	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:60754829A>T	ENST00000303375.5	+	12	2436	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	678	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K678N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACACCAAACTCCGGTATT	0.662000													5	18					0	0	0.001984	0	0
BLOC1S1	2647	broad.mit.edu	37	12	56109844	56109844	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:56109844G>A	ENST00000550412.1	+	1	25	c.9G>A	c.(7-9)ccG>ccA	p.P3P	BLOC1S1_ENST00000548925.1_Silent_p.P3P|BLOC1S1_ENST00000257899.2_5'UTR|BLOC1S1_ENST00000549147.1_Silent_p.P3P														p.P3P(2)		endometrium(1)|lung(1)	2						ACATGGCCCCGGGGAGCCGAG	0.657000													4	9					0	0	0.000248	0	0
LPL	4023	broad.mit.edu	37	8	19818481	19818481	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:19818481C>G	ENST00000311322.8	+	8	1679	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	403	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.L403L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GAGAACTACTCATGTTGAAGC	0.408000													18	94					0	0	0.007413	0	0
KCNA6	3742	broad.mit.edu	37	12	4920245	4920245	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:4920245G>T	ENST00000433855.1	+	1	1904	c.1038G>T	c.(1036-1038)ctG>ctT	p.L346L	KCNA6_ENST00000280684.3_Silent_p.L346L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	346						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L346L(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCATCCGCCTGGTCCGGGTGT	0.652000										HNSCC(72;0.22)			17	37					1.28384e-07	1.72266e-07	0.001882	1	0
LRP1B	53353	broad.mit.edu	37	2	141130585	141130585	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:141130585C>A	ENST00000389484.3	-	69	11731	c.10760G>T	c.(10759-10761)tGt>tTt	p.C3587F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3587	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3587F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGGCTCACAGCTTTTCTC	0.363000										TSP Lung(27;0.18)			23	216					9.39395e-14	1.5203e-13	0.006320	1	0
MYH2	4620	broad.mit.edu	37	17	10426485	10426485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:10426485C>A	ENST00000245503.5	-	39	5979	c.5595G>T	c.(5593-5595)aaG>aaT	p.K1865N	MYH2_ENST00000397183.2_Missense_Mutation_p.K1865N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1865					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1865N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGAATATTCTTTCTATCTT	0.333000													6	78					0.00307968	0.00362205	0.003080	1	0
C11orf45	219833	broad.mit.edu	37	11	128772478	128772478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:128772478G>A	ENST00000310799.3	-	4	605	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Nonsense_Mutation_p.Q138*|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000530168.1_5'UTR	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	138						extracellular region		p.Q138*(1)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		GAACCAGGCTGATGGGCACTG	0.617000													11	50					0	0	0.000978	0	0
COL6A3	1293	broad.mit.edu	37	2	238289824	238289824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:238289824C>A	ENST00000295550.4	-	5	2083	c.1631G>T	c.(1630-1632)cGg>cTg	p.R544L	COL6A3_ENST00000346358.4_Missense_Mutation_p.R544L|COL6A3_ENST00000392003.2_Missense_Mutation_p.R137L|COL6A3_ENST00000347401.3_Missense_Mutation_p.R343L|COL6A3_ENST00000353578.4_Missense_Mutation_p.R338L|COL6A3_ENST00000472056.1_Missense_Mutation_p.R137L|COL6A3_ENST00000392004.3_Missense_Mutation_p.R338L|COL6A3_ENST00000409809.1_Missense_Mutation_p.R338L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	544	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R338L(2)|p.R544L(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGGCAGCCCGGTAGCCGGC	0.557000													33	195					6.00712e-18	1.04809e-17	0.002445	1	0
IMMT	10989	broad.mit.edu	37	2	86371798	86371798	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:86371798C>T	ENST00000410111.3	-	15	2257	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	IMMT_ENST00000254636.5_Missense_Mutation_p.G525R|IMMT_ENST00000442664.2_Missense_Mutation_p.G623R|IMMT_ENST00000449247.2_Missense_Mutation_p.G613R|IMMT_ENST00000409051.2_Missense_Mutation_p.G577R	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	624						integral to mitochondrial inner membrane	protein binding	p.G624R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTACACCCCACGGGTCAGG	0.498000													30	213					0	0	0.007291	0	0
ADCY2	108	broad.mit.edu	37	5	7698359	7698359	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:7698359G>T	ENST00000338316.4	+	7	1070		c.e7-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTCTTCCAGGAGAATGAAT	0.388000													72	254					4.29146e-36	8.14816e-36	0.003610	1	0
UGDH	7358	broad.mit.edu	37	4	39511522	39511522	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:39511522T>C	ENST00000316423.6	-	6	1011	c.669A>G	c.(667-669)gcA>gcG	p.A223A	UGDH_ENST00000501493.2_Silent_p.A156A|UGDH_ENST00000507089.1_Silent_p.A126A|UGDH_ENST00000506179.1_Silent_p.A223A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	223	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.A223A(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAAAAGCATTTGCTGCCTTAA	0.363000													10	76					0	0	0.006214	0	0
UNC5C	8633	broad.mit.edu	37	4	96140295	96140295	+	Silent	SNP	G	G	T	rs145160489		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:96140295G>T	ENST00000453304.1	-	9	1818	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	UNC5C_ENST00000506749.1_Silent_p.P509P	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	490					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.P490P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGTCATCTTGGGGGGTGACAG	0.498000													67	310					5.52965e-18	9.67688e-18	0.003610	1	0
NUFIP2	57532	broad.mit.edu	37	17	27614038	27614038	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:27614038G>A	ENST00000225388.4	-	2	1032	c.974C>T	c.(973-975)tCa>tTa	p.S325L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	325						nucleus|polysomal ribosome	protein binding|RNA binding	p.S325L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GGCAACAGCTGAAGCATGCTT	0.443000													31	235					0	0	0.007291	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265006	32265006	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:32265006C>A	ENST00000398664.3	+	1	967	c.332C>A	c.(331-333)cCt>cAt	p.P111H	RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000569631.1_Intron|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.P111H	NM_001243722.1	NP_001230651.1			TP53 target 3D									p.P111H(4)									GGTCGGTGGCCTCTCACTGCC	0.587000													16	212					1.99824e-07	2.65063e-07	0.004990	1	0
ANK2	287	broad.mit.edu	37	4	114279402	114279402	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:114279402A>G	ENST00000357077.4	+	38	9681	c.9628A>G	c.(9628-9630)Act>Gct	p.T3210A	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T3177A|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3177					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3210A(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCAGCCTCCACTGAAACACC	0.483000													21	116					0	0	0.008871	0	0
HYDIN	54768	broad.mit.edu	37	16	70841870	70841870	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:70841870G>T	ENST00000393567.2	-	86	15129	c.14979C>A	c.(14977-14979)ccC>ccA	p.P4993P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4993								p.P4992P(2)|p.P4944P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGCTGGGCTCGAATA	0.557000													15	129					1.96292e-10	2.93177e-10	0.001523	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992633	43992633	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:43992633C>T	ENST00000282406.4	+	30	4488	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1460						cytoplasm|cytoskeleton|integral to membrane	binding	p.P1460S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCTCTGCTCCAGCACTGCT	0.502000													23	102					0	0	0.001882	0	0
FAT4	79633	broad.mit.edu	37	4	126328260	126328260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:126328260G>T	ENST00000394329.3	+	3	5546	c.5533G>T	c.(5533-5535)Gtg>Ttg	p.V1845L	FAT4_ENST00000335110.5_Missense_Mutation_p.V143L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1845L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCAGACCCGTGTACTCTTT	0.408000													43	237					1.30916e-28	2.46157e-28	0.003610	1	0
SERPINB8	5271	broad.mit.edu	37	18	61654176	61654176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr18:61654176G>T	ENST00000397985.2	+	7	1045	c.789G>T	c.(787-789)aaG>aaT	p.K263N	SERPINB8_ENST00000542677.1_Missense_Mutation_p.K81N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K263N|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	263					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.K263N(2)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAAAAGTAAGGTTCAAGTTT	0.378000													25	136					2.21704e-12	3.45334e-12	0.002780	1	0
SLC8A1	6546	broad.mit.edu	37	2	40657385	40657385	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:40657385G>T	ENST00000406785.1	-	2	225	c.36C>A	c.(34-36)acC>acA	p.T12T	SLC8A1_ENST00000402441.1_Silent_p.T12T|SLC8A1_ENST00000332839.4_Silent_p.T12T|SLC8A1_ENST00000406391.2_Silent_p.T12T|SLC8A1_ENST00000542756.1_Silent_p.T12T|SLC8A1_ENST00000542024.1_Silent_p.T12T|SLC8A1_ENST00000405901.3_Silent_p.T12T|SLC8A1_ENST00000405269.1_Silent_p.T12T|SLC8A1_ENST00000408028.2_Silent_p.T12T|SLC8A1_ENST00000403092.1_Silent_p.T12T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T12T(3)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGAAAAGGTGGGTGAAA	0.408000													21	86					2.89027e-11	4.39593e-11	0.002299	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063015	48063015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:48063015G>A	ENST00000316364.5	+	19	2694	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G752E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G709E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G690E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G677E|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G696E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G733E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	752					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.G690E(2)|p.G752E(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCACCCAATGGAGATACTAAA	0.483000													29	98					0	0	0.007291	0	0
LSP1	4046	broad.mit.edu	37	11	1905755	1905755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:1905755G>T	ENST00000406638.2	+	7	1777	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	LSP1_ENST00000405957.2_Missense_Mutation_p.D159Y|LSP1_ENST00000381775.1_Missense_Mutation_p.D349Y|LSP1_ENST00000311604.3_Missense_Mutation_p.D221Y|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	221					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.D159Y(2)|p.D221Y(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATCCCAGCCAGACTTGCCCAT	0.562000													10	89					6.31663e-08	8.57467e-08	0.003163	1	0
FAM163A	148753	broad.mit.edu	37	1	179782940	179782940	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:179782940C>A	ENST00000341785.4	+	5	516	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	40						integral to membrane		p.T40T(2)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGAGCGGAACCGAGGTTGCAG	0.627000													18	109					2.4624e-09	3.4894e-09	0.008871	1	0
SERPINA6	866	broad.mit.edu	37	14	94776131	94776131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:94776131C>A	ENST00000341584.3	-	3	972	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	276					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGCGATGACTGTGTTCATC	0.557000													23	182					1.9806e-07	2.64535e-07	0.002299	1	0
MYH6	4624	broad.mit.edu	37	14	23853903	23853903	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:23853903C>T	ENST00000405093.3	-	36	5383	c.5313G>A	c.(5311-5313)ctG>ctA	p.L1771L	MYH6_ENST00000356287.3_Silent_p.L1771L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1771					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1771L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCCTTCTTCAGCTCCTCTG	0.622000													23	199					0	0	0.003954	0	0
CHRM3	1131	broad.mit.edu	37	1	240072343	240072343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:240072343G>C	ENST00000255380.4	+	5	2371	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGGGCTACTGGCTGTGCTAC	0.488000													47	130					0	0	0.003610	0	0
MYT1	4661	broad.mit.edu	37	20	62839147	62839147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:62839147G>T	ENST00000536311.1	+	7	962	c.598G>T	c.(598-600)Gag>Tag	p.E200*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Nonsense_Mutation_p.E200*			Q01538	MYT1_HUMAN	myelin transcription factor 1	200	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E200*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTGCTTCAGGAGGCTGCAGA	0.607000													12	87					0.000978159	0.00116219	0.000978	1	0
MUC16	94025	broad.mit.edu	37	19	9075971	9075971	+	Silent	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9075971T>G	ENST00000397910.4	-	3	11678	c.11475A>C	c.(11473-11475)ccA>ccC	p.P3825P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3826	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3825P(4)		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						GCACCTGCCCTGGATGTGCAG	0.507000													57	295					0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154684104	154684104	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:154684104T>A	ENST00000404039.1	+	26	2907	c.2320T>A	c.(2320-2322)Tcc>Acc	p.S774T	DPP6_ENST00000427557.1_Missense_Mutation_p.S731T|DPP6_ENST00000377770.3_Missense_Mutation_p.S838T|DPP6_ENST00000332007.3_Missense_Mutation_p.S776T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	838					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S838T(2)|p.S774T(2)|p.S776T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTACCGGTCCATCATCAA	0.507000													18	167					0	0	0.007413	0	0
RGS20	8601	broad.mit.edu	37	8	54859271	54859271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:54859271C>A	ENST00000297313.3	+	4	798	c.706C>A	c.(706-708)Cac>Aac	p.H236N	RGS20_ENST00000276500.4_Missense_Mutation_p.H89N|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.H121N|RGS20_ENST00000522225.1_5'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	236					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H236N(2)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AATAGCTTCCCACGAACTCAG	0.408000													6	96					0.00116845	0.00138262	0.001168	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110477365G>T	ENST00000378402.5	+	49	8408	c.8304G>T	c.(8302-8304)ggG>ggT	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			21	183					7.88262e-20	1.39204e-19	0.003330	1	0
MMP16	4325	broad.mit.edu	37	8	89131071	89131071	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:89131071T>A	ENST00000286614.6	-	5	1010	c.729A>T	c.(727-729)gtA>gtT	p.V243V	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	243					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.V243V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATGGACTGCTACAAGAAATA	0.378000													8	96					0	0	0.003080	0	0
CHRM3	1131	broad.mit.edu	37	1	240072344	240072344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:240072344G>T	ENST00000255380.4	+	5	2372	c.1593G>T	c.(1591-1593)tgG>tgT	p.W531C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGGCTACTGGCTGTGCTACA	0.483000													49	129					8.04919e-23	1.46143e-22	0.003610	1	0
DHRSX	207063	broad.mit.edu	37	X	2209645	2209645	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:2209645C>A	ENST00000334651.5	-	4	339		c.e4-1			NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked								binding|oxidoreductase activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAAAATTCCACTGGAAAAGGA	0.378000													23	182					6.44725e-10	9.50724e-10	0.002299	1	0
TRIM69	140691	broad.mit.edu	37	15	45059966	45059966	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:45059966A>T	ENST00000558173.1	+	5	5632	c.887A>T	c.(886-888)cAg>cTg	p.Q296L	TRIM69_ENST00000338264.4_Missense_Mutation_p.Q341L|TRIM69_ENST00000561043.1_Missense_Mutation_p.Q263L|TRIM69_ENST00000558329.1_Missense_Mutation_p.Q279L|TRIM69_ENST00000329464.4_Missense_Mutation_p.Q500L|TRIM69_ENST00000560442.1_Missense_Mutation_p.Q296L|TRIM69_ENST00000559390.1_Missense_Mutation_p.Q500L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	500					apoptosis	nuclear speck	zinc ion binding	p.Q500L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTACATCCACAGTAATGAGTC	0.358000													26	77					0	0	0.003954	0	0
ESD	2098	broad.mit.edu	37	13	47354087	47354087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:47354087C>A	ENST00000378720.3	-	8	765	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	ESD_ENST00000378697.1_Missense_Mutation_p.D166Y	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	195						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	p.D195Y(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTACTTTGATCTGTTCCCAAA	0.373000													27	112					4.74835e-14	7.77125e-14	0.002096	1	0
SPTA1	6708	broad.mit.edu	37	1	158583603	158583603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158583603G>T	ENST00000368148.3	-	50	7077	c.6897C>A	c.(6895-6897)tgC>tgA	p.C2299*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.C2296*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2299	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.C2299*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCTCTCAGGCAGGACCGGA	0.438000													13	121					1.36491e-13	2.19671e-13	0.001855	1	0
SPOCK3	50859	broad.mit.edu	37	4	167713350	167713350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:167713350G>T	ENST00000357154.3	-	8	826	c.689C>A	c.(688-690)aCa>aAa	p.T230K	SPOCK3_ENST00000504953.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T227K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T110K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T179K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T134K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000510741.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.T227K(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAATGTTTTTGTCTTCTTGTT	0.403000													18	77					1.67942e-08	2.31767e-08	0.006122	1	0
TAF1L	138474	broad.mit.edu	37	9	32632534	32632534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:32632534C>T	ENST00000242310.4	-	1	3133	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1015					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1015H(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAGGCGACGAAGGTCTGC	0.448000													87	410					0	0	0.003610	0	0
CNTN3	5067	broad.mit.edu	37	3	74315674	74315674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:74315674C>G	ENST00000263665.6	-	21	2971	c.2944G>C	c.(2944-2946)Gat>Cat	p.D982H	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	982	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D982H(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTCCCATCCCCTCCATCT	0.408000													58	352					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168102029	168102029	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:168102029A>T	ENST00000409195.1	+	9	4216	c.4127A>T	c.(4126-4128)cAa>cTa	p.Q1376L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1376L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1154L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1201					actin cytoskeleton organization	cell junction	actin binding	p.Q1376L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGTCACACAAGAAGACATT	0.363000													19	107					0	0	0.006122	0	0
USH2A	7399	broad.mit.edu	37	1	216372980	216372980	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216372980G>A	ENST00000366943.2	-	17	4186	c.3800C>T	c.(3799-3801)gCg>gTg	p.A1267V	USH2A_ENST00000366942.3_Missense_Mutation_p.A1267V|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.A1267V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1267	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1267V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTAGTTCCGCTGGTGGAGA	0.428000										HNSCC(13;0.011)			25	154					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9057909	9057909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9057909G>C	ENST00000397910.4	-	3	29740	c.29537C>G	c.(29536-29538)aCc>aGc	p.T9846S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T9846S(2)|p.T5479S(2)		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						CACAGCGGAGGTGATACCCAT	0.483000													20	166					0	0	0.004656	0	0
LOC150776	150776	broad.mit.edu	37	2	132273932	132273932	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:132273932G>T	ENST00000438378.2	+	0	1426					NR_026922.1																						ACCTCTTCTTGGAGCATTGCT	0.612000													5	35					1.23904e-05	1.55482e-05	0.000602	1	0
LCE3E	353145	broad.mit.edu	37	1	152538599	152538599	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:152538599C>A	ENST00000368789.1	-	2	141	c.86G>T	c.(85-87)tGt>tTt	p.C29F		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	29					keratinization			p.C29F(2)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGAGGCAGACACTGTACTGG	0.632000													46	157					6.68952e-21	1.18857e-20	0.003214	1	0
AQP10	89872	broad.mit.edu	37	1	154296762	154296762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:154296762G>A	ENST00000324978.3	+	6	752	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	238					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.G238S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGCAGTGCTGGTAATGGCTG	0.602000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	57					0	0	0.002096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439382	110439382	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110439382A>G	ENST00000378402.5	+	25	3101	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	999					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1001L(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAATCTTCTACAGGTTCCCT	0.458000										HNSCC(38;0.096)			18	75					0	0	0.006122	0	0
PTK2	5747	broad.mit.edu	37	8	141712746	141712746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:141712746G>A	ENST00000522684.1	-	25	2519	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q764*|PTK2_ENST00000519465.1_Nonsense_Mutation_p.Q392*|PTK2_ENST00000538769.1_Nonsense_Mutation_p.Q432*|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000430260.2_Nonsense_Mutation_p.Q74*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q764*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q764*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q808*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	764	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.Q716*(2)|p.Q786*(2)|p.Q764*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGAGATGCCTGACCTGGATAG	0.478000													21	151					0	0	0.002780	0	0
FGF5	2250	broad.mit.edu	37	4	81207742	81207742	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:81207742C>G	ENST00000312465.7	+	3	949	c.723C>G	c.(721-723)agC>agG	p.S241R	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	241					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.S241R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCCACCTAGCCCTATCAAGC	0.443000													15	120					0	0	0.002450	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605176	142605176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:142605176C>G	ENST00000370503.2	-	1	127	c.44G>C	c.(43-45)aGc>aCc	p.S15T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	15								p.S15T(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCACAGGGGCTCTTCGTCTT	0.468000													50	139					0	0	0.003610	0	0
HBD	3045	broad.mit.edu	37	11	5254211	5254211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:5254211C>A	ENST00000380299.3	-	3	641	c.427G>T	c.(427-429)Gct>Tct	p.A143S	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	143			A -> D (in Fitzroy).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A143S(2)|p.A143P(1)		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)		TACTTGTGAGCCAGGGCATTA	0.493000													14	141					1.3612e-06	1.75746e-06	0.003163	1	0
ITGAD	3681	broad.mit.edu	37	16	31429491	31429491	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:31429491C>A	ENST00000389202.2	+	21	2644	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	865					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P865P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAACCACCCCATCTTCCATG	0.572000													34	204					1.54707e-10	2.31661e-10	0.003610	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110396316	110396316	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110396316C>T	ENST00000378402.5	+	5	539	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	145					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T145T(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTTAGAACCCCAACAATAA	0.284000										HNSCC(38;0.096)			17	179					0	0	0.001523	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441505	44441505	+	Silent	SNP	G	G	T	rs148642401		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:44441505G>T	ENST00000291547.5	+	8	1024	c.813G>T	c.(811-813)acG>acT	p.T271T	PKNOX1_ENST00000432907.2_Silent_p.T154T	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	271							sequence-specific DNA binding	p.T271T(2)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGCATGCCACGAACGTGATGC	0.527000													19	112					1.28384e-07	1.72266e-07	0.001882	1	0
NUDCD1	84955	broad.mit.edu	37	8	110334668	110334668	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:110334668T>C	ENST00000239690.4	-	2	517	c.143A>G	c.(142-144)gAt>gGt	p.D48G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D19G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	48								p.D48G(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATATTGATCATCTCGAAGTTT	0.368000													9	100					0	0	0.008291	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	41					2.32078e-09	3.29676e-09	0.003163	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267765	103267765	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:103267765G>A	ENST00000217926.5	-	1	494	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	156					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.S156S(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCGTGCCTTCGGACTCGGCGA	0.662000													30	49					0	0	0.001786	0	0
SYNE3	161176	broad.mit.edu	37	14	95910860	95910860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:95910860C>A	ENST00000334258.5	-	9	1752	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	SYNE3_ENST00000553340.1_Missense_Mutation_p.D580Y|SYNE3_ENST00000557275.1_Missense_Mutation_p.D580Y|SYNE3_ENST00000554873.1_Missense_Mutation_p.D337Y	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.D580Y(6)		breast(1)|endometrium(2)|lung(25)	28						CCAGGAAGGTCCCGCTGAAGC	0.602000													14	78					2.31682e-05	2.88239e-05	0.003163	1	0
USH2A	7399	broad.mit.edu	37	1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216251649G>C	ENST00000366943.2	-	27	5740	c.5354C>G	c.(5353-5355)aCa>aGa	p.T1785R	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1785R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1785	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353000										HNSCC(13;0.011)			85	720					0	0	0.003610	0	0
ABCG1	9619	broad.mit.edu	37	21	43706025	43706025	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:43706025G>T	ENST00000398437.1	+	9	1480	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	ABCG1_ENST00000340588.4_Silent_p.R406R|ABCG1_ENST00000343687.3_Silent_p.R309R|ABCG1_ENST00000398457.2_Silent_p.R300R|ABCG1_ENST00000347800.2_Silent_p.R295R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.R298R|ABCG1_ENST00000361802.2_Silent_p.R298R			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	298	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R298R(2)|p.R300R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTGTACCGGGGAAAAGTCT	0.517000													48	320					7.77372e-23	1.41584e-22	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	114111142	114111142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:114111142T>A	ENST00000297405.5	-	5	1004	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S254C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S254C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S214C|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	254	CUB 2.					integral to membrane|plasma membrane		p.S214C(2)|p.S254C(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACTAGGGCTGGATATGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	125					0	0	0.001855	0	0
CASP4	837	broad.mit.edu	37	11	104819384	104819384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:104819384C>A	ENST00000444739.2	-	6	1711	c.801G>T	c.(799-801)tgG>tgT	p.W267C	CASP4_ENST00000393150.3_Missense_Mutation_p.W211C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	267					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.W267C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGTCTCTGACCCACAGTTCCC	0.498000													11	75					4.36969e-10	6.47651e-10	0.001855	1	0
USPL1	10208	broad.mit.edu	37	13	31205085	31205085	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:31205085G>T	ENST00000255304.4	+	4	684	c.342G>T	c.(340-342)aaG>aaT	p.K114N	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	114					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K114N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCAGCTATAAGGATTCACTTC	0.353000													18	85					1.99824e-07	2.65063e-07	0.004990	1	0
CYYR1	116159	broad.mit.edu	37	21	27945230	27945230	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:27945230T>A	ENST00000299340.4	-	1	373	c.30A>T	c.(28-30)ccA>ccT	p.P10P	CYYR1_ENST00000435845.2_Silent_p.P118P|CYYR1_ENST00000400043.3_Silent_p.P10P	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	10						integral to membrane		p.P10P(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAAGACCCCTGGACGCACGG	0.667000													30	133					0	0	0.760397	0	0
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:168106863G>A	ENST00000409195.1	+	9	9050	c.8961G>A	c.(8959-8961)ctG>ctA	p.L2987L	XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343000													31	296					0	0	0.779181	0	0
AFF2	2334	broad.mit.edu	37	X	147744265	147744265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:147744265G>T	ENST00000370460.2	+	3	1496	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	AFF2_ENST00000370457.5_Missense_Mutation_p.K335N|AFF2_ENST00000370458.1_Missense_Mutation_p.K335N|AFF2_ENST00000342251.3_Missense_Mutation_p.K335N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	339					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.K339N(4)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGCCAAAGTTCACCATCC	0.363000													27	55					1.75199e-13	2.24271e-13	0.717897	1	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:120008510C>A	ENST00000341846.5	-	1	651	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000													58	162					3.36121e-32	5.37174e-32	0.870114	1	0
VWA7	80737	broad.mit.edu	37	6	31740879	31740879	+	Silent	SNP	G	G	A	rs146780305	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:31740879G>A	ENST00000375686.3	-	7	1176	c.939C>T	c.(937-939)gcC>gcT	p.A313A	VWA7_ENST00000375688.4_Silent_p.A313A|VWA7_ENST00000447450.1_Silent_p.A313A|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	313						extracellular region		p.A313A(2)									TCAGGCTGGAGGCTGGGGTGA	0.632000													5	15					0	0	0.217242	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513959	1513959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:1513959C>A	ENST00000421627.2	+	3	1235	c.1101C>A	c.(1099-1101)agC>agA	p.S367R	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	446					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S411R(1)|p.S389R(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGAGGAGAGCGGAGAGTCAG	0.567000													3	22					0.004672	0.00487798	0.115264	1	0
OR4M2	390538	broad.mit.edu	37	15	22368980	22368980	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:22368980C>A	ENST00000332663.2	+	1	503	c.405C>A	c.(403-405)atC>atA	p.I135I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCTACCATCATGAATCAAC	0.502000													49	929					8.86878e-18	1.23546e-17	0.870114	1	0
PEG3	5178	broad.mit.edu	37	19	57327996	57327996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:57327996C>A	ENST00000326441.9	-	10	2177	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	PEG3_ENST00000423103.2_Missense_Mutation_p.G605V|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G479V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G481V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGTTTCCCCGCGCtcacg	0.453000													17	62					2.94398e-08	3.42369e-08	0.557998	1	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:93015490G>T	ENST00000333334.2	+	1	607	c.112G>T	c.(112-114)Gga>Tga	p.G38*	C15orf32_ENST00000556865.1_Nonsense_Mutation_p.G38*	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38								p.G38*(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAAC	0.542000													33	157					5.48756e-27	8.50899e-27	0.859065	1	0
MMD	23531	broad.mit.edu	37	17	53491543	53491543	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:53491543T>C	ENST00000262065.3	-	2	373	c.77A>G	c.(76-78)tAt>tGt	p.Y26C		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	26					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	p.Y26C(2)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGCATGTTCATAGCAAGTTGG	0.453000													21	206					0	0	0.706142	0	0
GLI1	2735	broad.mit.edu	37	12	57864243	57864243	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:57864243G>A	ENST00000228682.2	+	12	1811	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	GLI1_ENST00000543426.1_Missense_Mutation_p.G446R|GLI1_ENST00000546141.1_Missense_Mutation_p.G533R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	574					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.G574R(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCAGAGAATGGAGCATCCTC	0.632000													10	60					0	0	0.411799	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480376	37480376	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:37480376A>T	ENST00000381792.2	-	10	1295	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.D394E|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.D385E|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.D385E|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.D394E			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	394	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.D394E(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGCACGGCAAATCATACTTCT	0.617000													9	50					0	0	0.335167	0	0
MMRN1	22915	broad.mit.edu	37	4	90857222	90857222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:90857222C>G	ENST00000394980.1	+	7	2710	c.2391C>G	c.(2389-2391)aaC>aaG	p.N797K	MMRN1_ENST00000508372.1_Missense_Mutation_p.N539K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.N797K			Q13201	MMRN1_HUMAN	multimerin 1	797					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.N797K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAGATATAACTTTGTTTTGC	0.373000													11	50					0	0	0.387290	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57970609	57970609	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:57970609G>A	ENST00000225577.4	+	1	85	c.64G>A	c.(64-66)Gag>Aag	p.E22K	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E22K|RPS6KB1_ENST00000393021.3_5'UTR|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E22K	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	22					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	p.E22K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CAGGGAAGCTGAGGACATGGC	0.692000													4	18					0	0	0.184627	0	0
SALL2	6297	broad.mit.edu	37	14	21992890	21992890	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:21992890G>A	ENST00000327430.3	-	2	1266	c.972C>T	c.(970-972)acC>acT	p.T324T	SALL2_ENST00000450879.2_Silent_p.T187T|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	324							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T324T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTAGTCCCGTGGTGCTTGGGA	0.627000													18	33					0	0	0.592651	0	0
MYH13	8735	broad.mit.edu	37	17	10204269	10204269	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10204269C>T	ENST00000418404.3	-	40	5979	c.5816G>A	c.(5815-5817)tGa>tAa	p.*1939*	MYH13_ENST00000252172.4_Silent_p.*1939*|MYH13_ENST00000570743.1_Silent_p.*1939*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	0					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.*1939*(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTGAGCCTCATTCTTCCAT	0.438000													20	190					0	0	0.667858	0	0
NPHS2	7827	broad.mit.edu	37	1	179520370	179520370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:179520370G>T	ENST00000367615.4	-	8	1158	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.P296T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding	p.P364T(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGGACTTGGGAAGGGGAGG	0.488000													18	183					4.47668e-21	6.51494e-21	0.667858	1	0
FAM129C	199786	broad.mit.edu	37	19	17664237	17664237	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:17664237T>C	ENST00000335393.4	+	16	2097	c.1959T>C	c.(1957-1959)tcT>tcC	p.S653S	FAM129C_ENST00000449408.2_Silent_p.S379S|FAM129C_ENST00000601861.1_Silent_p.S622S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	653								p.S653S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTCTGCTGTCTTGCAGCTGCT	0.527000													25	99					0	0	0.681144	0	0
USH2A	7399	broad.mit.edu	37	1	216062334	216062334	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216062334A>T	ENST00000366943.2	-	41	8043	c.7657T>A	c.(7657-7659)Tgg>Agg	p.W2553R	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2553R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2553	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W2553R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGCTGCCAGGTGACCAAC	0.408000										HNSCC(13;0.011)			22	185					0	0	0.667858	0	0
LOC645752	645752	broad.mit.edu	37	15	78214375	78214375	+	RNA	SNP	T	T	C	rs4886974	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:78214375T>C	ENST00000567226.1	-	0	345																											AATCACGTTATTTCTTCCAGC	0.512000													4	81					0	0	0.184627	0	0
FAM194A	131831	broad.mit.edu	37	3	150377865	150377865	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:150377865C>G	ENST00000295910.6	-	14	1858	c.1806G>C	c.(1804-1806)aaG>aaC	p.K602N	FAM194A_ENST00000491361.1_Missense_Mutation_p.K456N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	602								p.K602N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGACGGATCTTTATTAAAC	0.423000													43	177					0	0	0.870114	0	0
ANKRD26	22852	broad.mit.edu	37	10	27355419	27355419	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:27355419A>G	ENST00000376087.4	-	11	1431	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S	ANKRD26_ENST00000436985.2_Silent_p.S471S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	422						centrosome		p.S422S(2)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAAGTACCTCAGAATCCCAAG	0.318000													4	42					0	0	0.150653	0	0
C19orf40	91442	broad.mit.edu	37	19	33464996	33464996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:33464996G>C	ENST00000588258.1	+	4	384	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_5'UTR|C19orf40_ENST00000590281.1_Missense_Mutation_p.E92Q	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	92					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	p.E92Q(2)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418000								Direct reversal of damage					6	86					0	0	0.248553	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871586	31871586	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:31871586T>A	ENST00000396556.2	-	4	797	c.675A>T	c.(673-675)gcA>gcT	p.A225A	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	225					lipid transport		lipid binding	p.A225A(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTCGGGCGGCTGCAGGCGACT	0.587000													12	60					0	0	0.435327	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219383918	219383918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:219383918A>T	ENST00000366928.5	+	4	453	c.406A>T	c.(406-408)Aga>Tga	p.R136*	LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.R120*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	136						cytoplasm	lysophospholipase activity	p.R136*(2)		large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTTAGCATATAGAAATCATCA	0.303000													21	164					0	0	0.827153	0	0
C12orf36	283422	broad.mit.edu	37	12	13529158	13529158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:13529158C>A	ENST00000532841.1	-	2	305	c.182G>T	c.(181-183)aGg>aTg	p.R61M	C12orf36_ENST00000527705.2_Splice_Site_p.S61_splice|C12orf36_ENST00000318426.2_Splice_Site_p.S61_splice|C12orf36_ENST00000539026.1_Splice_Site_p.R61_splice					chromosome 12 open reading frame 36									p.S61I(2)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcccactcacctccacagcct	0.488000													24	266					1.45844e-13	1.87616e-13	0.769981	1	0
LRRC15	131578	broad.mit.edu	37	3	194081543	194081543	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:194081543G>A	ENST00000347624.3	-	2	315	c.230C>T	c.(229-231)tCa>tTa	p.S77L	LRRC15_ENST00000439944.2_Missense_Mutation_p.S83L|LRRC15_ENST00000428839.1_Missense_Mutation_p.S83L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	77						integral to membrane		p.S77L(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GATGAGGGCTGAGATATTGAG	0.587000													24	86					0	0	0.654019	0	0
OR6F1	343169	broad.mit.edu	37	1	247875336	247875336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:247875336C>A	ENST00000302084.2	-	1	769	c.722G>T	c.(721-723)tGc>tTc	p.C241F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGCGAGGAGCACGTGGAGAA	0.527000													47	325					7.36392e-32	1.17327e-31	0.870114	1	0
PEX12	5193	broad.mit.edu	37	17	33904575	33904575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:33904575G>T	ENST00000225873.4	-	2	769	c.162C>A	c.(160-162)ttC>ttA	p.F54L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	54					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.F54L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCCACAAGAAGCCATAGT	0.373000													54	176					1.31726e-23	1.99504e-23	0.870114	1	0
DUSP27	92235	broad.mit.edu	37	1	167088532	167088532	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:167088532C>A	ENST00000361200.2	+	5	650	c.484C>A	c.(484-486)Cac>Aac	p.H162N	DUSP27_ENST00000271385.5_Missense_Mutation_p.H162N|DUSP27_ENST00000443333.1_Missense_Mutation_p.H162N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	162					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.H162N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAATCACCCACATTCTGAA	0.562000													6	65					0.248553	0.250476	0.248553	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863748	64863748	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:64863748G>A	ENST00000313349.3	-	2	555	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	86					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.F86F(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGAGGGGGTGAACATGGGCC	0.632000													16	61					0	0	0.500413	0	0
GHDC	84514	broad.mit.edu	37	17	40344425	40344425	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:40344425C>T	ENST00000301671.8	-	4	1164	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GHDC_ENST00000436923.2_Silent_p.R241R|GHDC_ENST00000587427.1_Silent_p.R241R|GHDC_ENST00000428494.2_Silent_p.R202R|GHDC_ENST00000414034.3_Silent_p.R241R|GHDC_ENST00000593209.1_Silent_p.R241R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	241						endoplasmic reticulum|nuclear envelope		p.R241R(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTAGGGCCTCCCGGAGCTCAG	0.657000													7	33					0	0	0.361761	0	0
TTN	7273	broad.mit.edu	37	2	179584084	179584084	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:179584084T>C	ENST00000589042.1	-	83	24257	c.24033A>G	c.(24031-24033)tcA>tcG	p.S8011S	TTN_ENST00000342992.6_Silent_p.S6767S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.S7694S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7694	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6767S(2)		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)			AAATCGGGGCTGAGCCAGAGA	0.498000													9	194					0	0	0.539581	0	0
BAI3	577	broad.mit.edu	37	6	69349249	69349249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:69349249G>T	ENST00000370598.1	+	3	1503	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	228					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G228C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGACAGAGGGCTGCCTGAC	0.537000													20	74					1.55795e-14	2.06013e-14	0.608945	1	0
HCST	10870	broad.mit.edu	37	19	36393498	36393498	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:36393498G>T	ENST00000246551.4	+	1	117	c.3G>T	c.(1-3)atG>atT	p.M1I	HCST_ENST00000437550.2_Start_Codon_SNP_p.M1I			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	1					regulation of immune response	integral to membrane|plasma membrane		p.M1I(2)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTCCACCATGATCCATCTGG	0.567000													56	321					3.95532e-38	6.41969e-38	0.870114	1	0
GDF5	8200	broad.mit.edu	37	20	34021748	34021748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:34021748G>T	ENST00000374372.1	-	4	1968	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K	GDF5_ENST00000374369.3_Missense_Mutation_p.Q489K|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	489					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.Q489K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCTCATACTGCTTATACACC	0.592000													15	104					1.33986e-20	1.92837e-20	0.681144	1	0
OR2T6	254879	broad.mit.edu	37	1	248551725	248551725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248551725G>T	ENST00000355728.2	+	1	816	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAAAGATAAGGTCTTCTCTG	0.473000													14	117					2.32078e-09	2.76689e-09	0.479597	1	0
TMEM47	83604	broad.mit.edu	37	X	34648523	34648523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:34648523C>A	ENST00000275954.3	-	3	711	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	151						integral to membrane		p.W151C(4)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCCATAACCCCAGTTGAACT	0.423000													12	79					0.0202918	0.0211019	0.457914	1	0
DUSP6	1848	broad.mit.edu	37	12	89743161	89743161	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:89743161T>A	ENST00000279488.7	-	3	2247	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	DUSP6_ENST00000547291.1_Missense_Mutation_p.Q214L|DUSP6_ENST00000308385.6_Missense_Mutation_p.Q193L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	339	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Q339L(2)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTCCAGCAGCTGACCCATGAA	0.478000													52	160					0	0	0.870114	0	0
DSC3	1825	broad.mit.edu	37	18	28604459	28604459	+	Splice_Site	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:28604459A>G	ENST00000434452.1	-	6	785	c.630_splice	c.e6-1	p.L211_splice	DSC3_ENST00000360428.4_Splice_Site_p.L211_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	211	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L211L(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAGCAATCAACTGCAAAATA	0.408000													9	67					0	0	0.307466	0	0
NID2	22795	broad.mit.edu	37	14	52507529	52507529	+	Silent	SNP	C	C	G	rs146481572		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:52507529C>G	ENST00000216286.5	-	8	1865	c.1866G>C	c.(1864-1866)ccG>ccC	p.P622P	NID2_ENST00000541773.1_Silent_p.P569P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	622	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.P622P(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTCCTCTCCCGGGTAGAATG	0.478000													60	180					0	0	0.870114	0	0
IL9R	3581	broad.mit.edu	37	X	155234092	155234092	+	Silent	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:155234092G>C	ENST00000424344.3	+	6	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L	IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000244174.5_Silent_p.L147L			Q01113	IL9R_HUMAN	interleukin 9 receptor	147					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTTAAGCTGGACCCGCCCT	0.547000													15	78					0	0	0.575678	0	0
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248737350C>G	ENST00000328782.2	-	1	730	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562000													57	447					0	0	0.870114	0	0
RUFY2	55680	broad.mit.edu	37	10	70156631	70156631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:70156631G>T	ENST00000388768.2	-	4	735	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Missense_Mutation_p.L102M|RUFY2_ENST00000454950.2_Missense_Mutation_p.L44M|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.L102M	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	151	RUN.					nucleus	metal ion binding	p.L137M(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCTCGACCCAGAGGGGTCCTA	0.433000													16	66					3.99206e-14	5.22578e-14	0.557998	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921566	178921566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:178921566G>A	ENST00000263967.3	+	5	1205	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	350					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D350N(4)|p.D350H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAATATTCGAGACATTGATAA	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	56					0	0	0.307466	0	0
GALNT7	51809	broad.mit.edu	37	4	174219404	174219404	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:174219404C>T	ENST00000265000.4	+	6	1187	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	368					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T368T(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGCCTCTGACCCCTCAAGAGA	0.443000													9	70					0	0	0.387290	0	0
CSNK1D	1453	broad.mit.edu	37	17	80223565	80223565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:80223565C>T	ENST00000314028.6	-	2	533	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CSNK1D_ENST00000398519.5_Missense_Mutation_p.G62R|CSNK1D_ENST00000392334.2_Missense_Mutation_p.G62R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	62	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G62R(6)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GACCTACCTCCTCCCTGCATC	0.458000													17	172					0	0	0.539581	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555733	125555733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:125555733C>A	ENST00000431078.1	+	19	3414	c.3050C>A	c.(3049-3051)cCt>cAt	p.P1017H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1017	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P1017H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAACCCTATCCTGTGACCAAG	0.443000													7	58					0.27861	0.280224	0.278610	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090685	238090685	+	RNA	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:238090685G>C	ENST00000450451.1	+	0	2191					NR_027247.2																						GGCTGGCAGGGACCTGACAGG	0.622000													8	32					0	0	0.387290	0	0
PKHD1	5314	broad.mit.edu	37	6	51768419	51768419	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:51768419G>C	ENST00000371117.3	-	43	7247	c.6972C>G	c.(6970-6972)atC>atG	p.I2324M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I2324M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2324					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I2324M(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGACTGCAGATATAGATGC	0.453000													97	614					0	0	0.870114	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111896616	111896616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:111896616G>T	ENST00000375741.2	+	9	1238	c.988G>T	c.(988-990)Gta>Tta	p.V330L	ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V74L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V237L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V152L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V152L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V227L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V280L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V152L|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V152L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V309L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	330	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.V309L(2)|p.V152L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAATGCTCGTACAGTCTTT	0.313000													13	129					1.45105e-14	1.92366e-14	0.539581	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952637	119952637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:119952637C>T	ENST00000307142.4	+	4	2903	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P903S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P903S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	903						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.P903S(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTCAGTCTCCCACTCCATC	0.567000													6	98					0	0	0.217242	0	0
TRPM3	80036	broad.mit.edu	37	9	73426112	73426112	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:73426112C>A	ENST00000377106.1	-	7	917	c.563G>T	c.(562-564)tGg>tTg	p.W188L	TRPM3_ENST00000358082.3_Missense_Mutation_p.W188L|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.W188L|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.W343L|TRPM3_ENST00000360823.2_Missense_Mutation_p.W188L|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.W188L|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Intron	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	341						integral to membrane	calcium channel activity	p.W188L(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAACTACCCCAAAATGAATA	0.358000													4	26					0.00024832	0.000266203	0.150653	1	0
RALYL	138046	broad.mit.edu	37	8	85774568	85774568	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:85774568C>G	ENST00000521268.1	+	6	1556	c.451C>G	c.(451-453)Cgt>Ggt	p.R151G	RALYL_ENST00000521376.1_Missense_Mutation_p.R62G|RALYL_ENST00000523850.1_Missense_Mutation_p.R78G|RALYL_ENST00000522455.1_Missense_Mutation_p.R151G|RALYL_ENST00000518566.1_Missense_Mutation_p.R140G|RALYL_ENST00000517638.1_Missense_Mutation_p.R164G|RALYL_ENST00000521695.1_Missense_Mutation_p.R151G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							identical protein binding|nucleotide binding|RNA binding	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502000													11	22					0	0	0.435327	0	0
C1orf105	92346	broad.mit.edu	37	1	172437600	172437600	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:172437600T>A	ENST00000367727.4	+	7	616	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.Y130N	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	140								p.Y140N(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AAGCATTCACTACAGACTGCC	0.443000													55	368					0	0	0.870114	0	0
C1orf105	92346	broad.mit.edu	37	1	172437623	172437623	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:172437623C>A	ENST00000367727.4	+	7	639	c.441C>A	c.(439-441)ccC>ccA	p.P147P	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.P137P	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	147								p.P147P(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTCTGGGCCCCAGGACAGCTG	0.443000													54	449					5.62145e-24	8.56366e-24	0.870114	1	0
SLAIN2	57606	broad.mit.edu	37	4	48381849	48381849	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:48381849C>G	ENST00000264313.6	+	4	1264	c.846C>G	c.(844-846)gcC>gcG	p.A282A	SLAIN2_ENST00000512093.1_Silent_p.A89A	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	282						centrosome		p.A282A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGATTCTAGCCCGGATGCAGG	0.308000													44	252					0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141708386	141708386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:141708386G>A	ENST00000475668.2	+	3	262	c.208G>A	c.(208-210)Gct>Act	p.A70T	MGAM_ENST00000549489.2_Missense_Mutation_p.A70T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	70	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A70T(8)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCACACATGCTAGGACAAC	0.498000													26	116					0	0	0.740014	0	0
ZNF479	90827	broad.mit.edu	37	7	57188289	57188289	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:57188289A>T	ENST00000331162.4	-	5	1103	c.833T>A	c.(832-834)tTt>tAt	p.F278Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F278Y(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGAGCGCCTAAAGGCTTGGCC	0.458000													6	73					0	0	0.248553	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542719	26542719	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:26542719G>T	ENST00000381655.2	+	35	3421	c.3279G>T	c.(3277-3279)aaG>aaT	p.K1093N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.K1028N	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1053					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K1093N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACAGAGCCAAGCACACCTGCA	0.527000													8	48					0.000442599	0.000471563	0.335167	1	0
TSIX	9383	broad.mit.edu	37	X	73042079	73042079	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:73042079G>T	ENST00000604411.1	+	0	30040				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTATTATAAGGAGAGTTCCTG	0.453000													20	50					1.00905e-13	1.3045e-13	0.575678	1	0
REST	5978	broad.mit.edu	37	4	57796165	57796165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:57796165G>C	ENST00000309042.7	+	4	1455	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	381					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.E381Q(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAACATGTAGAGCTACATGT	0.428000													48	218					0	0	0.870114	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952305	95952305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:95952305G>C	ENST00000342697.4	-	3	663	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	TP53INP1_ENST00000448464.2_Missense_Mutation_p.Q86E|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Missense_Mutation_p.Q86E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	86					apoptosis	PML body		p.Q86E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GACTCAAACTGGAGAAAGCAG	0.473000													16	95					0	0	0.539581	0	0
GRM7	2917	broad.mit.edu	37	3	7348280	7348280	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:7348280A>G	ENST00000486284.1	+	4	1248	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	GRM7_ENST00000402647.2_Missense_Mutation_p.Q325R|GRM7_ENST00000357716.4_Missense_Mutation_p.Q325R|GRM7_ENST00000403881.1_Missense_Mutation_p.Q325R|GRM7_ENST00000389336.4_Missense_Mutation_p.Q325R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	325					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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.Q325R(2)		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)	CCACTGCACCAGCATGAAGAT	0.517000													24	102					0	0	0.639603	0	0
CDH6	1004	broad.mit.edu	37	5	31322949	31322949	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:31322949T>A	ENST00000265071.2	+	12	2172	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L636Q(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTGCAGCTCTGAGGCGGCAG	0.448000													42	170					0	0	0.870114	0	0
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408000													38	231					0	0	0.834066	0	0
MAT1A	4143	broad.mit.edu	37	10	82043734	82043734	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:82043734A>T	ENST00000372213.3	-	3	490	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	77					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.V77E(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGGTAGTCCACCATGGCCAT	0.592000													18	80					0	0	0.575678	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862065	128862065	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:128862065G>C	ENST00000274487.4	+	4	1129	c.984G>C	c.(982-984)gaG>gaC	p.E328D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	328	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E328D(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAACATAGAGACTGTAGTGG	0.393000													12	138					0	0	0.457914	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10408756G>T	ENST00000226207.5	-	20	2341	c.2247C>A	c.(2245-2247)ctC>ctA	p.L749L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACCCCAGGAGCTTCTCTG	0.403000													17	182					2.94398e-08	3.42369e-08	0.557998	1	0
LRRC8C	84230	broad.mit.edu	37	1	90179864	90179864	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:90179864C>T	ENST00000370454.4	+	3	1990	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	579						endoplasmic reticulum membrane|integral to membrane		p.L579L(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGCACCAAGCTGGTGATGCT	0.463000													30	220					0	0	0.750413	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005823	118005823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:118005823C>T	ENST00000310754.4	-	1	913	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	243	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D243N(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TACTTTTCATCACTAAAGTAA	0.388000													12	69					0	0	0.411799	0	0
PTGER3	5733	broad.mit.edu	37	1	71512437	71512437	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:71512437C>T	ENST00000370924.4	-	1	1054	c.824G>A	c.(823-825)cGc>cAc	p.R275H	PTGER3_ENST00000351052.5_Missense_Mutation_p.R275H|PTGER3_ENST00000306666.5_Missense_Mutation_p.R275H|PTGER3_ENST00000370932.2_Missense_Mutation_p.R275H|PTGER3_ENST00000354608.5_Missense_Mutation_p.R275H|PTGER3_ENST00000460330.1_Missense_Mutation_p.R275H|PTGER3_ENST00000356595.4_Missense_Mutation_p.R275H|PTGER3_ENST00000414819.1_Missense_Mutation_p.R275H|PTGER3_ENST00000370931.3_Missense_Mutation_p.R275H	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	275					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.R275H(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGTCGTGATGCGGCCCCACTG	0.622000													3	53					0	0	0.150653	0	0
ENPP7	339221	broad.mit.edu	37	17	77710992	77710992	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:77710992G>A	ENST00000328313.5	+	4	1400	c.1179G>A	c.(1177-1179)cgG>cgA	p.R393R		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	393					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATGTGCCGGCTGCTGGGCA	0.647000													3	29					0	0	0.115264	0	0
FLVCR2	55640	broad.mit.edu	37	14	76108196	76108196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:76108196G>C	ENST00000238667.4	+	9	1820	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000539311.1_Missense_Mutation_p.K283N|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.K203N|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	488					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.K488N(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATTCATTAAGGCAGATCTCC	0.433000													29	227					0	0	0.796494	0	0
ZNF536	9745	broad.mit.edu	37	19	30936620	30936620	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:30936620C>A	ENST00000355537.3	+	2	2298	c.2151C>A	c.(2149-2151)ccC>ccA	p.P717P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P717P(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCGCACCCCTCCTCGCCAT	0.682000													8	31					0.00448238	0.00469883	0.307466	1	0
FHOD3	80206	broad.mit.edu	37	18	34324149	34324149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:34324149C>A	ENST00000257209.4	+	20	3631	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S1345*|FHOD3_ENST00000592128.1_Nonsense_Mutation_p.S149*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S1153*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S1132*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1153	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S1170*(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCACCAGGTCAGCCAAGGTA	0.562000													37	278					1.6237e-14	2.14164e-14	0.864702	1	0
ATP11C	286410	broad.mit.edu	37	X	138825775	138825775	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:138825775T>C	ENST00000370557.1	-	26	3991	c.2964A>G	c.(2962-2964)ggA>ggG	p.G988G	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.G994G|ATP11C_ENST00000361648.2_Silent_p.G994G|ATP11C_ENST00000370543.1_Silent_p.G994G|ATP11C_ENST00000327569.3_Silent_p.G994G			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	994					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G994G(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGTCCAGTTTCCGTATACCT	0.264000													5	16					0	0	0.248553	0	0
SCD5	79966	broad.mit.edu	37	4	83626448	83626448	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:83626448G>A	ENST00000319540.4	-	2	670	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCD5_ENST00000273908.4_Silent_p.S117S|SCD5_ENST00000282709.4_Silent_p.S117S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	117					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.S117S(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAAAGCCATGGAGTTGGCGA	0.607000													13	89					0	0	0.520397	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303752	46303752	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:46303752A>G	ENST00000221538.3	-	5	2010	c.1868T>C	c.(1867-1869)gTt>gCt	p.V623A	RSPH6A_ENST00000600188.1_Missense_Mutation_p.V359A|RSPH6A_ENST00000597055.1_Missense_Mutation_p.V623A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	623	Glu-rich.					intracellular		p.V623A(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGAGCGCACAACGGCCACTGA	0.637000													4	22					0	0	0.184627	0	0
LRRC6	23639	broad.mit.edu	37	8	133637568	133637568	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:133637568C>A	ENST00000519595.1	-	6	884	c.786G>T	c.(784-786)ttG>ttT	p.L262F	LRRC6_ENST00000518642.1_Missense_Mutation_p.L262F|LRRC6_ENST00000250173.1_Missense_Mutation_p.L262F|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	262						cytoplasm		p.L262F(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAAGAGTTTCCAATCTTGATT	0.383000													61	243					3.6896e-23	5.55573e-23	0.870114	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143																											CATCTCTGTACGATGATGTGA	0.358000													8	106					0	0	0.411799	0	0
TFDP3	51270	broad.mit.edu	37	X	132351141	132351141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:132351141G>T	ENST00000310125.4	-	1	1235	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P383T(2)|p.P323T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCGACTGCTGGGGTCTCCACC	0.562000													63	152					3.36522e-66	5.65573e-66	0.870114	1	0
PASD1	139135	broad.mit.edu	37	X	150841089	150841089	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:150841089C>G	ENST00000370357.4	+	14	2117	c.1872C>G	c.(1870-1872)ttC>ttG	p.F624L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	624						nucleus	signal transducer activity	p.F624L(4)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCTTCTATCAAGATG	0.473000													45	111					0	0	0.870114	0	0
DNAH9	1770	broad.mit.edu	37	17	11520764	11520764	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:11520764T>C	ENST00000262442.3	+	5	1009	c.941T>C	c.(940-942)aTa>aCa	p.I314T	DNAH9_ENST00000454412.2_Missense_Mutation_p.I314T|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	314	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I314T(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCACCTGATACCGCTCCAG	0.587000													7	38					0	0	0.278610	0	0
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:107973450A>C	ENST00000370068.1	+	6	2012	c.1166A>C	c.(1165-1167)cAc>cCc	p.H389P	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.H389P|NTNG1_ENST00000370072.3_Missense_Mutation_p.H389P|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453000													6	66					0	0	0.217242	0	0
CCDC57	284001	broad.mit.edu	37	17	80151915	80151915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:80151915C>A	ENST00000389641.4	-	5	755	c.719G>T	c.(718-720)aGg>aTg	p.R240M	CCDC57_ENST00000392347.1_Missense_Mutation_p.R240M|CCDC57_ENST00000392343.3_Missense_Mutation_p.R240M			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	240								p.R240M(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGGAGCTTCCTCTCCAGCTC	0.652000													12	29					3.27435e-08	3.78257e-08	0.457914	1	0
DNAI2	64446	broad.mit.edu	37	17	72297289	72297289	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:72297289G>A	ENST00000579490.1	+	7	1275	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	DNAI2_ENST00000446837.2_Silent_p.L323L|DNAI2_ENST00000582036.1_Silent_p.L323L|DNAI2_ENST00000307504.5_Silent_p.L180L|DNAI2_ENST00000311014.6_Silent_p.L323L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	323					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.L323L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCATCTCCCTGGAGTTCGAAT	0.527000									Kartagener syndrome				50	192					0	0	0.870114	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111929984	111929984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:111929984G>C	ENST00000375741.2	+	14	1783	c.1533G>C	c.(1531-1533)ttG>ttC	p.L511F	ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L255F|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L418F|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L333F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L333F|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L408F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L461F|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L333F|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.L167F|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L333F|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L490F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	511	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L333F(2)|p.L490F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTAATGTTGTCTGCCAGTC	0.294000													10	82					0	0	0.500413	0	0
MUC5B	727897	broad.mit.edu	37	11	1271072	1271072	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:1271072C>A	ENST00000447027.1	+	31	13029	c.12971C>A	c.(12970-12972)aCc>aAc	p.T4324N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4321N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4321	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4321N(2)|p.T4276N(2)		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)		TCCACAGCTACCAGCGTTACA	0.607000													4	47					0.00024832	0.000266203	0.150653	1	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:127727777T>A	ENST00000508053.1	-	17	2511	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_ENST00000262464.4_Missense_Mutation_p.T513S|FBN2_ENST00000508989.1_Missense_Mutation_p.T480S			P35556	FBN2_HUMAN	fibrillin 2	513	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T513S(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGAGACAGTTGGTATACAG	0.348000													55	121					0	0	0.870114	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239224	160239224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:160239224G>A	ENST00000392783.2	-	25	4346	c.3851C>T	c.(3850-3852)cCc>cTc	p.P1284L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1248L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1250L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1184L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P1284L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCTGGAGTGGGTGTGCCCAA	0.468000													9	66					0	0	0.361761	0	0
SEH1L	81929	broad.mit.edu	37	18	12971215	12971215	+	Silent	SNP	C	C	T	rs142041554	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:12971215C>T	ENST00000262124.11	+	5	712	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SEH1L_ENST00000399892.2_Silent_p.A195A	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	195					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		p.A195A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						ACGCAATGGCCAAGGTTCAGA	0.373000													4	72					0	0	0.184627	0	0
ITGAX	3687	broad.mit.edu	37	16	31391186	31391186	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31391186G>T	ENST00000268296.4	+	25	3097		c.e25+1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCAGGTACCCAAGGA	0.587000													7	25					2.17888e-05	2.37986e-05	0.335167	1	0
ANGEL1	23357	broad.mit.edu	37	14	77273815	77273815	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:77273815G>A	ENST00000251089.2	-	4	1019	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	303								p.H303Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCAGTAATGATCTTCCTGG	0.522000													15	74					0	0	0.608945	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632830	28632830	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:28632830G>A	ENST00000526619.2	+	14	1771	c.756G>A	c.(754-756)agG>agA	p.R252R	GOLGA8F_ENST00000532622.2_Silent_p.R466R|GOLGA8F_ENST00000450328.2_Silent_p.R248R|GOLGA8F_ENST00000337838.7_Intron														p.R466R(2)		lung(4)	4						TGGAGAGCAGGGAGGCCATGG	0.602000													17	241					0	0	0.760397	0	0
NSRP1	84081	broad.mit.edu	37	17	28511912	28511912	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:28511912T>G	ENST00000247026.5	+	7	960	c.897T>G	c.(895-897)agT>agG	p.S299R	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	299	His-rich.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	p.S299R(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAGGGCACAGTACCAGGCACC	0.498000													30	147					0	0	0.779181	0	0
CCDC178	374864	broad.mit.edu	37	18	30791950	30791950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:30791950C>G	ENST00000383096.3	-	20	2330	c.2148G>C	c.(2146-2148)gaG>gaC	p.E716D	CCDC178_ENST00000402325.1_Missense_Mutation_p.E716D|CCDC178_ENST00000300227.8_Missense_Mutation_p.E678D|CCDC178_ENST00000403303.1_Missense_Mutation_p.E716D|CCDC178_ENST00000406524.2_Missense_Mutation_p.E716D|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.E716D|CCDC178_ENST00000579947.1_Missense_Mutation_p.E716D					coiled-coil domain containing 178									p.E716D(2)|p.E678D(2)									AGTCTTTTTTCTCTTGCATAT	0.343000													11	53					0	0	0.435327	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554394	140554394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:140554394G>C	ENST00000231137.3	+	1	2152	c.1978G>C	c.(1978-1980)Gtg>Ctg	p.V660L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V660L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.711000													5	60					0	0	0.435327	0	0
CSDE1	7812	broad.mit.edu	37	1	115267878	115267878	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:115267878T>C	ENST00000438362.2	-	15	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	CSDE1_ENST00000358528.4_Missense_Mutation_p.K573E|CSDE1_ENST00000534699.1_Missense_Mutation_p.K573E|CSDE1_ENST00000339438.6_Missense_Mutation_p.K542E|CSDE1_ENST00000530886.1_Missense_Mutation_p.K443E|CSDE1_ENST00000261443.5_Missense_Mutation_p.K542E|CSDE1_ENST00000369530.1_Missense_Mutation_p.K588E	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	573	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.K573E(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GCACTGACTTTGTTGCCTTTG	0.413000													27	426					0	0	0.729181	0	0
ATR	545	broad.mit.edu	37	3	142188251	142188251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:142188251C>G	ENST00000350721.4	-	38	6601	c.6480G>C	c.(6478-6480)ttG>ttC	p.L2160F	ATR_ENST00000383101.3_Missense_Mutation_p.L2096F|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2160	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L2160F(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTATTTCCATCAAGACAACAA	0.348000								Other conserved DNA damage response genes					38	298					0	0	0.870114	0	0
PTPRD	5789	broad.mit.edu	37	9	8465591	8465591	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:8465591C>A	ENST00000381196.4	-	29	4132	c.3589G>T	c.(3589-3591)Gat>Tat	p.D1197Y	PTPRD_ENST00000397606.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D786Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D783Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D783Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1197Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.D786Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1184Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1175Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1197Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1197					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1197Y(4)|p.D668Y(2)|p.D786Y(2)		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)		GGAAGGACATCAAAGTGAGCG	0.423000										TSP Lung(15;0.13)			63	300					3.8128e-34	6.15006e-34	0.870114	1	0
OR4C3	256144	broad.mit.edu	37	11	48347153	48347153	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:48347153G>A	ENST00000319856.4	+	1	682	c.661G>A	c.(661-663)Ggt>Agt	p.G221S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G221S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTATGTCATTGGTCTGCTGGT	0.507000													49	245					0	0	0.870114	0	0
KNDC1	85442	broad.mit.edu	37	10	135024994	135024994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:135024994G>T	ENST00000304613.3	+	22	3998	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	KNDC1_ENST00000368572.2_Missense_Mutation_p.W1328L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1326	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.W1326L(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGCAGGCCTGGGTGGAGGAC	0.647000													13	46					1.49906e-05	1.65118e-05	0.457914	1	0
IFI16	3428	broad.mit.edu	37	1	158988299	158988299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158988299C>A	ENST00000295809.7	+	5	1085	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	IFI16_ENST00000430894.2_Missense_Mutation_p.S225Y|IFI16_ENST00000368131.4_Missense_Mutation_p.S277Y|IFI16_ENST00000368132.3_Missense_Mutation_p.S277Y|IFI16_ENST00000359709.3_Missense_Mutation_p.S221Y|IFI16_ENST00000340979.6_Missense_Mutation_p.S277Y|IFI16_ENST00000448393.2_Missense_Mutation_p.S277Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	277	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.S277Y(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AATGAAGAATCTACTGTATCT	0.343000													16	115					1.67942e-08	1.96624e-08	0.539581	1	0
SYDE2	84144	broad.mit.edu	37	1	85648858	85648858	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:85648858A>G	ENST00000341460.5	-	3	1516	c.1467T>C	c.(1465-1467)aaT>aaC	p.N489N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	489					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.N489N(2)|p.N411N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCAGTACTATTTGTAGCAG	0.318000													14	131					0	0	0.557998	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543774	54543774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:54543774C>G	ENST00000566473.2	+	14	1624	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.H542D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	542								p.H542D(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAAGATCGACATGGAAACAT	0.403000													28	199					0	0	0.788014	0	0
MACROD2	140733	broad.mit.edu	37	20	14066278	14066278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:14066278C>T	ENST00000217246.4	+	3	570	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.Q59*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	59	Macro.							p.Q59*(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAAATACTCAGGAAACATC	0.318000													11	33					0	0	0.411799	0	0
CELSR2	1952	broad.mit.edu	37	1	109812142	109812142	+	Silent	SNP	G	G	A	rs150014940		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:109812142G>A	ENST00000271332.3	+	21	6970	c.6909G>A	c.(6907-6909)acG>acA	p.T2303T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2303					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.T2303T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCCGTCACGGTGCAGTTCC	0.607000													14	52					0	0	0.457914	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31384649G>T	ENST00000268296.4	+	20	2567	c.2446G>T	c.(2446-2448)Gga>Tga	p.G816*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.G816*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACTCCTACGGAACCACCAT	0.607000													21	136					2.79863e-10	3.3909e-10	0.681144	1	0
NAA16	79612	broad.mit.edu	37	13	41892955	41892955	+	Missense_Mutation	SNP	G	G	C	rs143056243	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:41892955G>C	ENST00000379406.3	+	3	477	c.153G>C	c.(151-153)atG>atC	p.M51I	NAA16_ENST00000379367.3_Missense_Mutation_p.M51I|NAA16_ENST00000403412.3_Missense_Mutation_p.M51I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	51					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.M51I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTTTGGCTATGAAAGGATTAA	0.294000													14	71					0	0	0.457914	0	0
CCL14	6358	broad.mit.edu	37	17	34310883	34310883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:34310883C>A	ENST00000480944.2	-	2	2708	c.302G>T	c.(301-303)aGt>aTt	p.S101I	CCL14_ENST00000536149.1_Missense_Mutation_p.S95I|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000394509.4_Missense_Mutation_p.S79I|CCL14_ENST00000435911.2_Missense_Mutation_p.S95I|CCL14_ENST00000586216.1_3'UTR			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	79					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.S79I(2)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTTGTCACTGGGGTTGGT	0.547000													16	207					1.15919e-05	1.28771e-05	0.575678	1	0
COL4A6	1288	broad.mit.edu	37	X	107447623	107447623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:107447623C>G	ENST00000394872.2	-	13	932	c.701G>C	c.(700-702)gGc>gCc	p.G234A	COL4A6_ENST00000545689.1_Missense_Mutation_p.G236A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G236A|COL4A6_ENST00000372216.4_Missense_Mutation_p.G237A|COL4A6_ENST00000334504.7_Missense_Mutation_p.G236A			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	237	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G236A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGCTGGGCCAGGGAGGCC	0.478000									Alport syndrome with Diffuse Leiomyomatosis				16	44					0	0	0.608945	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319215	154319215	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:154319215C>T	ENST00000368489.3	+	26	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1067					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1081P(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGTTTCCCAACCAGTTCC	0.517000													61	300					0	0	0.870114	0	0
TFDP3	51270	broad.mit.edu	37	X	132351139	132351139	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:132351139T>C	ENST00000310125.4	-	1	1237	c.1149A>G	c.(1147-1149)ccA>ccG	p.P383P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P323P(2)|p.P383P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCGACTGCTGGGGTCTCCA	0.562000													63	153					0	0	0.870114	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479746	12479746	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:12479746C>G	ENST00000409402.4	-	10	1623	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	SPIRE1_ENST00000383356.2_Missense_Mutation_p.K279N|SPIRE1_ENST00000309836.5_Missense_Mutation_p.K241N|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K318N|SPIRE1_ENST00000410092.3_Missense_Mutation_p.K438N	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	452						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.K279N(2)|p.K452N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTCTGAGGAGCTTCTTCCGCT	0.517000													21	122					0	0	0.575678	0	0
SYPL2	284612	broad.mit.edu	37	1	110019410	110019410	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:110019410C>A	ENST00000369872.3	+	4	483	c.267C>A	c.(265-267)atC>atA	p.I89I	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.I89I	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	89	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.I89I(2)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCACCGGATCCAATATGAGA	0.592000													14	68					1.49906e-05	1.65118e-05	0.457914	1	0
STARD10	10809	broad.mit.edu	37	11	72492187	72492187	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:72492187G>A	ENST00000334805.6	-	2	959	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	STARD10_ENST00000545082.1_Missense_Mutation_p.R14W|STARD10_ENST00000543304.1_Missense_Mutation_p.R14W|STARD10_ENST00000538536.1_Missense_Mutation_p.R14W|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	14	START.							p.R14W(2)		endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGACCGGCCGAGGCCCTTGG	0.667000													7	25					0	0	0.248553	0	0
DHTKD1	55526	broad.mit.edu	37	10	12136268	12136268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:12136268C>G	ENST00000263035.4	+	7	1418	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	452					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I452M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACAAAATCATCAGGTACAATT	0.408000													6	76					0	0	0.335167	0	0
NCKAP5	344148	broad.mit.edu	37	2	133887593	133887593	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:133887593G>T	ENST00000409261.1	-	6	671	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R100S|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R100S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R100S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	100							protein binding	p.R100S(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATTCTGTTGCGTTCAGACTCT	0.478000													4	78					0.150653	0.153602	0.150653	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121608168	121608168	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:121608168T>C	ENST00000393386.2	+	3	699	c.288T>C	c.(286-288)caT>caC	p.H96H	PTPRZ1_ENST00000449182.1_Silent_p.H96H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	96	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.H96H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATTCATTCATAACACTGGGA	0.303000													29	109					0	0	0.788014	0	0
USP9X	8239	broad.mit.edu	37	X	41064746	41064746	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:41064746G>T	ENST00000324545.7	+	32	5648	c.5015_splice	c.e32+1	p.R1672_splice	USP9X_ENST00000378308.2_Splice_Site_p.R1672_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1672					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.R1672M(2)|p.R1665M(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACAGTTCAGGTAAACTATG	0.373000													86	189					7.30829e-53	1.22039e-52	0.870114	1	0
GFI1	2672	broad.mit.edu	37	1	92948493	92948493	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:92948493C>T	ENST00000370332.1	-	3	544	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GFI1_ENST00000427103.1_Missense_Mutation_p.E76K|GFI1_ENST00000294702.5_Missense_Mutation_p.E76K	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	76				DSCEG -> RQLRS (in Ref. 1; AAB37272).	negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E76K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		ACGCTGCCTTCGCAGCTGTCT	0.662000													11	19					0	0	0.387290	0	0
DOCK2	1794	broad.mit.edu	37	5	169506137	169506137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:169506137C>A	ENST00000256935.8	+	49	5233	c.5153C>A	c.(5152-5154)tCg>tAg	p.S1718*	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.S1210*|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.S779*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1718					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1718*(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCAGAGTCGGACCTGAAG	0.567000													3	10					0.000602214	0.000640314	0.184627	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373000													15	63					0	0	0.539581	0	0
PDSS2	57107	broad.mit.edu	37	6	107531724	107531724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:107531724C>G	ENST00000369037.4	-	6	1204	c.927G>C	c.(925-927)atG>atC	p.M309I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.M309I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GATTAAAAGTCATGGAGTCAC	0.328000													4	30					0	0	0.150653	0	0
SLC7A7	9056	broad.mit.edu	37	14	23242826	23242826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:23242826G>T	ENST00000397532.3	-	10	2054	c.1529C>A	c.(1528-1530)tCt>tAt	p.S510Y	SLC7A7_ENST00000397529.2_Missense_Mutation_p.S510Y|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S510Y|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S244Y			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	510					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.S510Y(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TGTTTAGTTAGATTTGGGATC	0.488000													36	111					7.53189e-24	1.14406e-23	0.834066	1	0
M6PR	4074	broad.mit.edu	37	12	9096396	9096396	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:9096396C>A	ENST00000000412.3	-	4	922		c.e4+1			NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)						endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	p.?(6)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		GGGTGCCTCACCGCTAGGGTG	0.532000													24	192					1.75199e-13	2.24271e-13	0.717897	1	0
ITPR1	3708	broad.mit.edu	37	3	4748018	4748018	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:4748018A>C	ENST00000302640.8	+	36	5130	c.4780A>C	c.(4780-4782)Atc>Ctc	p.I1594L	ITPR1_ENST00000423119.2_Missense_Mutation_p.I1600L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I1609L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I1600L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.I1594L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I1585L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1609					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.I1585L(2)|p.I1600L(2)|p.I1594L(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTACCGGAATATCATTGAGAG	0.542000													15	67					0	0	0.479597	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878986	24878986	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:24878986A>T	ENST00000382554.3	+	4	2304	c.1986A>T	c.(1984-1986)gcA>gcT	p.A662A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	662					DNA integration	integral to membrane	DNA binding	p.A662A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTTCCAAAGCACCTGCAGCTC	0.562000													7	31					0	0	0.307466	0	0
SYN3	8224	broad.mit.edu	37	22	32934062	32934062	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:32934062T>C	ENST00000358763.2	-	9	1194	c.952A>G	c.(952-954)Aca>Gca	p.T318A	SYN3_ENST00000332840.5_Missense_Mutation_p.T318A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	318	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T318A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGAGCCTGTGTTGGCCTTC	0.527000													47	286					0	0	0.870114	0	0
GFRA3	2676	broad.mit.edu	37	5	137593429	137593429	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:137593429C>A	ENST00000274721.3	-	4	930	c.684G>T	c.(682-684)ggG>ggT	p.G228G	GFRA3_ENST00000378362.3_Silent_p.G197G	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	228					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGCGCTCCCCGCAGCCCC	0.706000													11	19					5.50884e-06	6.15902e-06	0.411799	1	0
MUC17	140453	broad.mit.edu	37	7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488000													16	573					0	0	0.788014	0	0
SPTBN5	51332	broad.mit.edu	37	15	42150888	42150888	+	Missense_Mutation	SNP	G	G	A	rs890503	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:42150888G>A	ENST00000320955.6	-	49	8365	c.8138C>T	c.(8137-8139)aCa>aTa	p.T2713I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.T2713I(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCATGGCTGTGTCCAGCAA	0.632000													3	7					0	0	0.150653	0	0
KRBA1	84626	broad.mit.edu	37	7	149419947	149419947	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:149419947G>T	ENST00000255992.10	+	7	1071	c.672G>T	c.(670-672)cgG>cgT	p.R224R	KRBA1_ENST00000319551.8_Silent_p.R224R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Silent_p.R224R	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	224								p.R224R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCCCCGGCACCCCGAGA	0.637000													10	49					1.61879e-10	1.97979e-10	0.411799	1	0
MMP16	4325	broad.mit.edu	37	8	89053922	89053922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:89053922C>A	ENST00000286614.6	-	10	1872	c.1591G>T	c.(1591-1593)Ggc>Tgc	p.G531C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	531	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G531C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATCACAGCCCATAAAATCC	0.428000													61	180					7.73544e-29	1.21026e-28	0.870114	1	0
CNGA4	1262	broad.mit.edu	37	11	6262724	6262724	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:6262724T>A	ENST00000379936.2	+	5	1096	c.981T>A	c.(979-981)ccT>ccA	p.P327P	CNGA4_ENST00000533426.1_Silent_p.P96P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	327					response to stimulus|sensory perception of smell		cAMP binding	p.P327P(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTTGCCTGAGCGGCTGC	0.562000													75	402					0	0	0.870114	0	0
USP32	84669	broad.mit.edu	37	17	58256678	58256678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:58256678C>A	ENST00000300896.4	-	34	4947	c.4753G>T	c.(4753-4755)Gac>Tac	p.D1585Y	USP32_ENST00000592339.1_Missense_Mutation_p.D1255Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1585					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D1585Y(2)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTTGTGTCTGCCATCTTT	0.448000													48	148					3.48956e-15	4.68572e-15	0.870114	1	0
PRKG2	5593	broad.mit.edu	37	4	82096115	82096115	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:82096115T>A	ENST00000395578.1	-	3	578		c.e3-2		PRKG2_ENST00000418486.2_Splice_Site|RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000264399.1_Splice_Site|RP11-100N20.1_ENST00000505175.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II						platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.?(4)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTCTTCTCACTGGTATAATGG	0.318000													33	199					0	0	0.796494	0	0
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:101795440G>A	ENST00000251127.6	-	17	2190	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	703						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I703I(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468000													58	315					0	0	0.870114	0	0
MICAL2	9645	broad.mit.edu	37	11	12244189	12244189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:12244189C>T	ENST00000256194.4	+	11	1636	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	MICAL2_ENST00000379612.3_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000527546.1_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000537344.1_Nonsense_Mutation_p.Q450*	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	450						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.Q450*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCTGTTACCTCAGACAACCCC	0.567000													6	82					0	0	0.217242	0	0
MUC16	94025	broad.mit.edu	37	19	9049935	9049935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9049935C>G	ENST00000397910.4	-	5	31899	c.31696G>C	c.(31696-31698)Gag>Cag	p.E10566Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10568	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10566Q(2)|p.E6199Q(2)		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						GCTGTGGTCTCTGATTCTCTA	0.488000													88	519					0	0	0.870114	0	0
MGAT4A	11320	broad.mit.edu	37	2	99261914	99261914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:99261914T>C	ENST00000393487.1	-	9	1179	c.866A>G	c.(865-867)gAg>gGg	p.E289G	MGAT4A_ENST00000264968.2_Missense_Mutation_p.E289G|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E289G|MGAT4A_ENST00000414521.2_Missense_Mutation_p.E161G	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	289					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.E289G(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTGGGAAAACTCTAGAATCAT	0.323000													5	77					0	0	0.248553	0	0
COL4A6	1288	broad.mit.edu	37	X	107418937	107418937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:107418937C>A	ENST00000394872.2	-	29	3011	c.2780G>T	c.(2779-2781)gGa>gTa	p.G927V	COL4A6_ENST00000545689.1_Missense_Mutation_p.G926V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G926V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G927V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G926V			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	927	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G926V(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCAGTTGATCCTGGAATTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				6	27					0.217242	0.22063	0.217242	1	0
MMP20	9313	broad.mit.edu	37	11	102464323	102464323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:102464323G>T	ENST00000260228.2	-	8	1106	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	365	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P365H(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGTAGTGGGGACCTGAAAA	0.418000													28	143					1.08312e-15	1.46955e-15	0.740014	1	0
WIPI1	55062	broad.mit.edu	37	17	66430737	66430737	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:66430737C>T	ENST00000262139.5	-	7	651	c.652G>A	c.(652-654)Gat>Aat	p.D218N	WIPI1_ENST00000546360.1_Missense_Mutation_p.D136N|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	218					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.D218N(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTGCCCATCAGGGACAGAG	0.498000													10	81					0	0	0.435327	0	0
PID1	55022	broad.mit.edu	37	2	230020666	230020666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:230020666C>A	ENST00000392054.3	-	3	477	c.138G>T	c.(136-138)atG>atT	p.M46I	PID1_ENST00000354069.6_Missense_Mutation_p.M48I|PID1_ENST00000409462.1_Intron|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000392055.3_Missense_Mutation_p.M15I	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	48						cytoplasm		p.M46I(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TAGACTTCAGCATGGTCTGAA	0.438000													32	242					5.71845e-15	7.63926e-15	0.812448	1	0
PPP1R7	5510	broad.mit.edu	37	2	242092932	242092932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:242092932G>T	ENST00000234038.6	+	2	568	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	PPP1R7_ENST00000406106.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G32W	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	32						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.G32W(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGATGAAGAAGGGAAGAAACA	0.547000													18	134					6.94344e-10	8.33533e-10	0.539581	1	0
COL22A1	169044	broad.mit.edu	37	8	139628254	139628254	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:139628254G>C	ENST00000303045.6	-	55	4360	c.3914C>G	c.(3913-3915)cCa>cGa	p.P1305R	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1285R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1305	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1305R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATCTTTTCCTGGTAACCCTTC	0.567000										HNSCC(7;0.00092)			19	85					0	0	0.592651	0	0
COG5	10466	broad.mit.edu	37	7	107013135	107013135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:107013135C>T	ENST00000393603.2	-	8	1104	c.833G>A	c.(832-834)aGt>aAt	p.S278N	COG5_ENST00000347053.3_Missense_Mutation_p.S278N|COG5_ENST00000297135.3_Missense_Mutation_p.S278N|COG5_ENST00000475638.2_5'UTR	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	278					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.S278N(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCCACAACACTGGTAATAGT	0.398000													36	176					0	0	0.834066	0	0
LRRK2	120892	broad.mit.edu	37	12	40689416	40689416	+	Silent	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:40689416A>C	ENST00000298910.7	+	23	3124	c.3066A>C	c.(3064-3066)gcA>gcC	p.A1022A	LRRK2_ENST00000343742.2_Silent_p.A1022A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1022					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A1022A(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGAATGCACTCACGAGCT	0.348000													9	121					0	0	0.361761	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:63010527C>G	ENST00000439174.2	-	4	1227	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	GNA13_ENST00000541118.1_Missense_Mutation_p.E233Q	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	328					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000													15	162					0	0	0.539581	0	0
NOL6	65083	broad.mit.edu	37	9	33467207	33467207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:33467207C>A	ENST00000379471.2	-	14	1866	c.1779G>T	c.(1777-1779)caG>caT	p.Q593H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.Q541H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	593					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.Q593H(2)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGCTCCGTCCTGGAAACGCC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					0.248553	0.250476	0.248553	1	0
OR11H4	390442	broad.mit.edu	37	14	20711267	20711267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:20711267G>T	ENST00000315409.2	+	1	370	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCATTTTCTGGGTGCTTCCTC	0.453000													72	172					6.47592e-44	1.06099e-43	0.870114	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	71					0	0	0.217242	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185390	32185390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:32185390C>A	ENST00000329621.4	-	1	180	c.149G>T	c.(148-150)gGg>gTg	p.G50V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						GCCGAAAGCCCCACAGCCGTT	0.562000													20	182					1.01871e-10	1.25473e-10	0.575678	1	0
KPNB1	3837	broad.mit.edu	37	17	45755523	45755523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:45755523C>G	ENST00000290158.4	+	18	2622	c.2215C>G	c.(2215-2217)Ctt>Gtt	p.L739V	KPNB1_ENST00000537679.1_Missense_Mutation_p.L523V|KPNB1_ENST00000535458.2_Missense_Mutation_p.L594V|KPNB1_ENST00000540627.1_Missense_Mutation_p.L594V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	739					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.L739V(2)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTGAATACTCTTCAGCAGGC	0.438000													25	269					0	0	0.717897	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097635	38097635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:38097635G>T	ENST00000261439.4	+	14	2677	c.2322G>T	c.(2320-2322)tgG>tgT	p.W774C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.W868C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	774						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTACAGTGTGGGAAAAGATGC	0.408000													36	236					6.57855e-14	8.56856e-14	0.847076	1	0
ROBO2	6092	broad.mit.edu	37	3	75986693	75986693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:75986693C>T	ENST00000487694.3	+	2	328	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P17S(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACATGGGCTCCGGGACTGTT	0.458000													8	82					0	0	0.361761	0	0
TBC1D16	125058	broad.mit.edu	37	17	77925310	77925310	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:77925310T>A	ENST00000310924.2	-	5	1143	c.1028A>T	c.(1027-1029)gAc>gTc	p.D343V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	343						intracellular	Rab GTPase activator activity	p.D343V(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGACAGCTTGTCCAGGCCGCC	0.612000													8	61					0	0	0.361761	0	0
ACER2	340485	broad.mit.edu	37	9	19424744	19424744	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:19424744G>T	ENST00000340967.2	+	3	296	c.270G>T	c.(268-270)caG>caT	p.Q90H	ACER2_ENST00000380376.1_Missense_Mutation_p.Q41H	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	90					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.Q90H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTGGGTCAGATGCTTGATG	0.433000													107	493					9.70916e-65	1.62652e-64	0.870114	1	0
DPEP2	64174	broad.mit.edu	37	16	68021439	68021439	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:68021439G>T	ENST00000412757.2	-	12	2096	c.1431C>A	c.(1429-1431)gcC>gcA	p.A477A	DPEP2_ENST00000393847.1_Silent_p.A477A|DPEP2_ENST00000572888.1_Silent_p.A477A			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	477					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.A477A(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGGGAAGGTGGCCACAACTG	0.547000													35	151					2.75727e-19	3.92497e-19	0.804634	1	0
DERL1	79139	broad.mit.edu	37	8	124033690	124033690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:124033690C>A	ENST00000259512.4	-	6	803	c.503G>T	c.(502-504)gGc>gTc	p.G168V	DERL1_ENST00000419562.2_Missense_Mutation_p.G68V|DERL1_ENST00000523036.1_Missense_Mutation_p.G68V|DERL1_ENST00000405944.3_Missense_Mutation_p.G168V|DERL1_ENST00000519018.1_Missense_Mutation_p.G68V|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	168					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	p.G168V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CACTTACGAGCCTCCGATGAT	0.353000													34	247					6.1244e-12	7.65183e-12	0.834066	1	0
MYH1	4619	broad.mit.edu	37	17	10408755	10408755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10408755G>T	ENST00000226207.5	-	20	2342	c.2248C>A	c.(2248-2250)Ctg>Atg	p.L750M	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	750	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGGACCCCAGGAGCTTCTCT	0.403000													17	189					1.01871e-10	1.25473e-10	0.575678	1	0
FASLG	356	broad.mit.edu	37	1	172628515	172628515	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:172628515G>T	ENST00000367721.2	+	1	358	c.174G>T	c.(172-174)ccG>ccT	p.P58P	FASLG_ENST00000340030.3_Silent_p.P58P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	58	Poly-Pro.|Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.P58P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cacctccgccgccgccgccac	0.622000													3	9					0.115264	0.118214	0.115264	1	0
ANGPT4	51378	broad.mit.edu	37	20	869027	869027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:869027G>A	ENST00000381922.3	-	3	623	c.521C>T	c.(520-522)aCc>aTc	p.T174I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T174I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	174					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T174I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTTGTTGGTGGACAGAAA	0.582000													77	450					0	0	0.870114	0	0
MYOCD	93649	broad.mit.edu	37	17	12647645	12647645	+	Missense_Mutation	SNP	G	G	C	rs140013261	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:12647645G>C	ENST00000425538.1	+	8	1063	c.863G>C	c.(862-864)cGg>cCg	p.R288P	MYOCD_ENST00000395988.1_Missense_Mutation_p.R192P|MYOCD_ENST00000343344.4_Missense_Mutation_p.R288P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	288					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R288P(4)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTACGCTCGGCTGCTCCAG	0.557000													6	31					0	0	0.248553	0	0
OR5M3	219482	broad.mit.edu	37	11	56237426	56237426	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:56237426A>T	ENST00000312240.2	-	1	588	c.548T>A	c.(547-549)aTc>aAc	p.I183N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCATTTTGATGAGAGGTGG	0.408000													60	308					0	0	0.870114	0	0
EPG5	57724	broad.mit.edu	37	18	43497731	43497731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:43497731G>C	ENST00000282041.5	-	17	3186	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1051					autophagy			p.S1051*(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAAATGTCTTGACTGGACCAG	0.428000													10	266					0	0	0.411799	0	0
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:114284743G>T	ENST00000393500.3	+	14	1588	c.768G>T	c.(766-768)tcG>tcT	p.S256S	FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000350908.4_Silent_p.S331S|FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000403559.4_Silent_p.S348S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000393494.2_Silent_p.S331S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468000													11	102					1.5842e-08	1.86313e-08	0.435327	1	0
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692000													11	50					0	0	0.411799	0	0
GRID2	2895	broad.mit.edu	37	4	94159624	94159624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:94159624G>T	ENST00000282020.4	+	8	1486	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	GRID2_ENST00000510992.1_Missense_Mutation_p.G315C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	410					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G410C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGAGCTTGGCAGAGGTGT	0.408000													27	221					6.38683e-12	7.96062e-12	0.729181	1	0
KMT2D	8085	broad.mit.edu	37	12	49436374	49436374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:49436374C>G	ENST00000301067.7	-	27	5836	c.5837G>C	c.(5836-5838)gGc>gCc	p.G1946A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1946A(2)|p.G1676A(2)									CTGGCAGAGGCCTGGGTAGGA	0.557000													23	51					0	0	0.693898	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184741	32184741	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:32184741G>T	ENST00000375023.3	-	11	1980	c.1842C>A	c.(1840-1842)ctC>ctA	p.L614L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	614	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L614L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGAGGGGCAGAGGCAAAAGA	0.527000													20	159					3.08376e-08	3.57826e-08	0.654019	1	0
HPS4	89781	broad.mit.edu	37	22	26860726	26860726	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:26860726T>A	ENST00000398145.2	-	11	1486	c.870A>T	c.(868-870)acA>acT	p.T290T	HPS4_ENST00000402105.3_Silent_p.T285T|HPS4_ENST00000336873.5_Silent_p.T290T|HPS4_ENST00000398141.1_Silent_p.T303T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	290					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.T290T(2)|p.T303T(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGGGCAGATGTGCTCCCAC	0.572000									Hermansky-Pudlak syndrome				8	110					0	0	0.335167	0	0
TBC1D8	11138	broad.mit.edu	37	2	101648757	101648757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:101648757G>T	ENST00000409318.1	-	11	2039	c.1909C>A	c.(1909-1911)Ccc>Acc	p.P637T	TBC1D8_ENST00000376840.4_Missense_Mutation_p.P622T	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	622	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.P637T(2)|p.P622T(2)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AAGTAATCGGGCAGCATCCGC	0.562000													10	84					4.68919e-08	5.39309e-08	0.361761	1	0
WDR89	112840	broad.mit.edu	37	14	64065848	64065848	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:64065848T>C	ENST00000394942.2	-	2	901	c.813A>G	c.(811-813)gaA>gaG	p.E271E	WDR89_ENST00000267522.3_Silent_p.E271E|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	271								p.E271E(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CCAAAGCATCTTCTTTCATGT	0.373000													111	429					0	0	0.870114	0	0
PCDH10	57575	broad.mit.edu	37	4	134073054	134073054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:134073054C>A	ENST00000264360.4	+	1	2585	c.1759C>A	c.(1759-1761)Cgt>Agt	p.R587S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R587S(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTCCAGCGCGTGAGGTGCT	0.662000													3	18					0.00116845	0.00123481	0.217242	1	0
POLE	5426	broad.mit.edu	37	12	133256133	133256133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:133256133C>G	ENST00000320574.5	-	6	571	c.528G>C	c.(526-528)aaG>aaC	p.K176N	POLE_ENST00000535270.1_Missense_Mutation_p.K149N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	176					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.K176N(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCCCTGTTCTTCTTCACGG	0.507000								DNA polymerases (catalytic subunits)					11	121					0	0	0.387290	0	0
EIF2D	1939	broad.mit.edu	37	1	206785640	206785640	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:206785640C>A	ENST00000271764.2	-	1	264	c.56_splice	c.e1+1	p.R19_splice	EIF2D_ENST00000367114.3_Splice_Site_p.R19_splice	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	19					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.R19M(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCCCTCACCTGTCCGACCC	0.617000													39	92					7.90463e-13	9.9717e-13	0.870114	1	0
FMN2	56776	broad.mit.edu	37	1	240370500	240370500	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:240370500C>A	ENST00000319653.9	+	5	2618	c.2388C>A	c.(2386-2388)gtC>gtA	p.V796V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	796	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.V939V(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAATATCAGTCCAGCTCGACA	0.577000													54	118					3.56336e-21	5.20031e-21	0.870114	1	0
NELL2	4753	broad.mit.edu	37	12	45000952	45000952	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:45000952C>A	ENST00000429094.2	-	15	2167	c.1663_splice	c.e15+1	p.D555_splice	NELL2_ENST00000549027.1_Splice_Site_p.D554_splice|NELL2_ENST00000395487.2_Splice_Site_p.D554_splice|NELL2_ENST00000333837.4_Splice_Site_p.D578_splice|NELL2_ENST00000452445.2_Splice_Site_p.D555_splice|NELL2_ENST00000437801.2_Splice_Site_p.D605_splice|NELL2_ENST00000551601.1_Splice_Site_p.D554_splice	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	555	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D555Y(1)|p.D605Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATATTCTTACCCGTTTCACAG	0.408000													37	122					4.17593e-13	5.31947e-13	0.834066	1	0
CDH10	1008	broad.mit.edu	37	5	24509715	24509715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:24509715C>A	ENST00000264463.4	-	7	1723	c.1216G>T	c.(1216-1218)Gta>Tta	p.V406L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V406L(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCCATTACAGTACCAATG	0.438000										HNSCC(23;0.051)			38	162					5.13769e-22	7.64781e-22	0.870114	1	0
PCNXL2	80003	broad.mit.edu	37	1	233394394	233394394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:233394394C>A	ENST00000258229.8	-	5	1448	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	405						integral to membrane		p.S405I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGACTTTACACTGGTCTTCTC	0.532000													12	90					7.03913e-09	8.31607e-09	0.411799	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69034445	69034445	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:69034445A>G	ENST00000295381.3	+	5	923	c.504A>G	c.(502-504)gaA>gaG	p.E168E	ARHGAP25_ENST00000497079.1_Silent_p.E162E|ARHGAP25_ENST00000409220.1_Silent_p.E162E|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Silent_p.E143E|ARHGAP25_ENST00000409030.3_Silent_p.E161E|ARHGAP25_ENST00000467265.1_Silent_p.E129E|ARHGAP25_ENST00000409202.3_Silent_p.E169E	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	168	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E162E(2)|p.E169E(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGCCTATGAACAGAAATTCG	0.542000													16	143					0	0	0.539581	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325952	15325952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:15325952T>A	ENST00000378116.4	-	2	256	c.250A>T	c.(250-252)Agt>Tgt	p.S84C		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	84						integral to membrane		p.S84C(4)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCAACTGACTGCCCAGCTTA	0.537000													38	231					0	0	0.812448	0	0
DDX11	1663	broad.mit.edu	37	12	31253967	31253967	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:31253967T>G	ENST00000407793.2	+	20	2206	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	DDX11_ENST00000545668.1_Missense_Mutation_p.V652G|DDX11_ENST00000228264.6_Missense_Mutation_p.V626G|DDX11_ENST00000542838.1_Missense_Mutation_p.V652G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.V652G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.V652G(4)|p.V652A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTCACGTGATCCCTCCA	0.577000										Multiple Myeloma(12;0.14)			26	140					0	0	0.706142	0	0
GYS2	2998	broad.mit.edu	37	12	21713354	21713354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:21713354T>A	ENST00000261195.2	-	8	1389	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	379					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.T379S(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTTCAGGGTTTCCACGTTG	0.378000													30	251					0	0	0.804634	0	0
GPR61	83873	broad.mit.edu	37	1	110086511	110086511	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:110086511C>A	ENST00000527748.1	+	2	1550	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	289						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L289L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGTGGTTCTCCTGGCTGTGG	0.617000													5	32					1.23904e-05	1.37057e-05	0.184627	1	0
TUBA8	51807	broad.mit.edu	37	22	18613793	18613793	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:18613793G>A	ENST00000330423.3	+	5	1313	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E414K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AGAGGGGATGGAAGAAGGAGA	0.542000													12	67					0	0	0.457914	0	0
GC	2638	broad.mit.edu	37	4	72634043	72634043	+	Missense_Mutation	SNP	G	G	T	rs34941807		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:72634043G>T	ENST00000273951.8	-	3	579	c.236C>A	c.(235-237)gCt>gAt	p.A79D	GC_ENST00000504199.1_Missense_Mutation_p.A98D|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.A79D	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	79	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.A98D(2)|p.A79D(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTCAGGGTCAGCCCCTTCCGC	0.532000													10	55					1.11149e-13	1.43338e-13	0.361761	1	0
MYH13	8735	broad.mit.edu	37	17	10222113	10222113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10222113C>G	ENST00000418404.3	-	26	3895	c.3732G>C	c.(3730-3732)aaG>aaC	p.K1244N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1244N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1244N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1244N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTACCTTTGACTTGGAGAGAG	0.562000													32	146					0	0	0.788014	0	0
PAX4	5078	broad.mit.edu	37	7	127253901	127253901	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:127253901A>T	ENST00000341640.2	-	4	652	c.447T>A	c.(445-447)agT>agA	p.S149R	PAX4_ENST00000338516.3_Missense_Mutation_p.S157R|PAX4_ENST00000463946.1_Missense_Mutation_p.S147R|PAX4_ENST00000378740.2_Missense_Mutation_p.S149R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	157					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S149R(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCAGAGCCACTATGGGGAG	0.572000													14	94					0	0	0.479597	0	0
LAMA1	284217	broad.mit.edu	37	18	6943380	6943380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:6943380C>A	ENST00000389658.3	-	62	8959	c.8866G>T	c.(8866-8868)Ggt>Tgt	p.G2956C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2956	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2956C(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCAGCACCATTGTTGACA	0.408000													14	139					2.32078e-09	2.76689e-09	0.479597	1	0
HIST1H3J	8356	broad.mit.edu	37	6	27858239	27858239	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:27858239C>G	ENST00000359303.2	-	1	331	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111S(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GTGAATAGCACAGAGGTTGGT	0.547000													12	136					0	0	0.387290	0	0
MARK1	4139	broad.mit.edu	37	1	220835506	220835506	+	Nonstop_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:220835506T>G	ENST00000402574.1	+	17	2938	c.1936T>G	c.(1936-1938)Taa>Gaa	p.*646E	MARK1_ENST00000366918.4_Nonstop_Mutation_p.*759E|MARK1_ENST00000366917.4_Nonstop_Mutation_p.*796E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	0					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.*796E(3)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCTTAAGCTGTAAAGAAGTCC	0.393000													10	85					0	0	0.361761	0	0
BRINP2	57795	broad.mit.edu	37	1	177250580	177250580	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:177250580G>T	ENST00000361539.4	+	8	2580	c.2268G>T	c.(2266-2268)gtG>gtT	p.V756V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		756						extracellular region		p.V756V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACAATGAGGTGGGCAGGATCC	0.552000													18	215					2.32416e-17	3.2119e-17	0.624587	1	0
PAX2	5076	broad.mit.edu	37	10	102584414	102584414	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:102584414T>A	ENST00000370296.2	+	9	1548	c.998T>A	c.(997-999)aTg>aAg	p.M333K	PAX2_ENST00000428433.1_Missense_Mutation_p.M333K|PAX2_ENST00000361791.3_Missense_Mutation_p.M310K|PAX2_ENST00000355243.3_Missense_Mutation_p.M310K|PAX2_ENST00000556085.1_Missense_Mutation_p.M309K			Q02962	PAX2_HUMAN	paired box 2	333					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.M333K(2)|p.M310K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTCGTGACATGGCGAGCACC	0.612000													38	199					0	0	0.870114	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667813	106667813	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:106667813G>T	ENST00000390606.2	-	0	180																											GGCTGCACAGGAGAGTCTCAG	0.572000													40	279					1.62263e-30	2.56178e-30	0.870114	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133049	91133049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:91133049G>T	ENST00000373094.1	+	2	2655	c.1810G>T	c.(1810-1812)Gca>Tca	p.A604S	PCDH11X_ENST00000395337.2_Missense_Mutation_p.A604S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A604S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A604S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A604S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	604	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.A604S(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGACAATTCTGCAGTTACGCT	0.383000													20	43					3.57733e-08	4.12343e-08	0.740014	1	0
FBXO40	51725	broad.mit.edu	37	3	121341414	121341414	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:121341414A>T	ENST00000338040.4	+	3	1552	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	380					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.T380S(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGCAGTGGATACTTCAGATTT	0.483000													86	339					0	0	0.870114	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305908	9305908	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrY:9305908G>T	ENST00000451548.1	+	3	610		c.e3-1		AC006156.1_ENST00000450145.1_Intron|TSPY3_ENST00000440483.1_Intron|TSPY1_ENST00000423647.2_Splice_Site|AC006156.1_ENST00000423213.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1						cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	p.?(2)		lung(4)	4						TGTCCTGACAGGTGGGAGAAG	0.458000													45	526					9.57592e-29	1.49373e-28	0.870114	1	0
RASSF8	11228	broad.mit.edu	37	12	26217434	26217434	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:26217434G>C	ENST00000405154.2	+	3	306	c.107G>C	c.(106-108)cGa>cCa	p.R36P	RASSF8_ENST00000381352.3_Missense_Mutation_p.R36P|RASSF8_ENST00000542865.1_Missense_Mutation_p.R36P|RASSF8_ENST00000541490.1_Missense_Mutation_p.R36P|RASSF8_ENST00000282884.9_Missense_Mutation_p.R36P	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	36	Ras-associating.				signal transduction			p.R36P(4)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TACATAGGTCGAACTGGAAGG	0.338000													74	197					0	0	0.870114	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667826	60667826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:60667826C>A	ENST00000400324.4	-	4	651	c.431G>T	c.(430-432)cGg>cTg	p.R144L	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R74L|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R144L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R133L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R144L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCCTTTTCCCGCAATGGTGC	0.333000													14	84					0.000132079	0.00014247	0.575678	1	0
TAS2R16	50833	broad.mit.edu	37	7	122634999	122634999	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:122634999G>A	ENST00000249284.2	-	1	755	c.690C>T	c.(688-690)gcC>gcT	p.A230A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A230A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAATAAGACGGCAAGGGACC	0.433000													43	254					0	0	0.859065	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:57896476G>T	ENST00000381227.1	+	25	3759	c.3346G>T	c.(3346-3348)Gtt>Ttt	p.V1116F	POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116F|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041F|POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(2)|p.V1116I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000													36	218					4.32679e-17	5.96365e-17	0.827153	1	0
CLRN2	645104	broad.mit.edu	37	4	17524543	17524543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:17524543C>A	ENST00000511148.2	+	2	412	c.310C>A	c.(310-312)Ctc>Atc	p.L104I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	104						integral to membrane		p.L121I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATTCTGCTGCTCCTCTTCCT	0.557000													38	247					6.2361e-21	9.02503e-21	0.834066	1	0
SLC5A1	6523	broad.mit.edu	37	22	32482262	32482262	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:32482262T>A	ENST00000266088.4	+	10	1327	c.1077T>A	c.(1075-1077)gtT>gtA	p.V359V	SLC5A1_ENST00000543737.1_Silent_p.V232V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	359					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.V359V(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTACCAAGGTTGGCTGTACCA	0.493000													97	478					0	0	0.870114	0	0
MTMR6	9107	broad.mit.edu	37	13	25832811	25832811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:25832811C>A	ENST00000381801.5	-	7	1507	c.746G>T	c.(745-747)aGa>aTa	p.R249I	MTMR6_ENST00000482345.1_5'UTR|MTMR6_ENST00000540661.1_Missense_Mutation_p.R249I	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	249	Myotubularin phosphatase.|Substrate binding (By similarity).					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R249I(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCAGCTGCTCTGTTGGCCAT	0.299000													7	43					0.00829132	0.00863955	0.361761	1	0
GABBR2	9568	broad.mit.edu	37	9	101216375	101216375	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:101216375G>T	ENST00000259455.2	-	7	1583	c.1124C>A	c.(1123-1125)aCa>aAa	p.T375K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	375					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T375K(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCATGCAGTGTCTCCATGGC	0.592000													34	175					3.62531e-18	5.06377e-18	0.796494	1	0
CDH20	28316	broad.mit.edu	37	18	59166451	59166451	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:59166451C>A	ENST00000262717.4	+	3	677	c.279C>A	c.(277-279)tcC>tcA	p.S93S	CDH20_ENST00000536675.2_Silent_p.S93S|CDH20_ENST00000538374.1_Silent_p.S93S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	93	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S93S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGACGGATCCATCAAATACA	0.483000													6	31					0.217242	0.22063	0.217242	1	0
MUC16	94025	broad.mit.edu	37	19	9024497	9024497	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9024497C>A	ENST00000397910.4	-	17	37240		c.e17-1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.?(2)		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						TGGGTGAAACCTGCATAGAGA	0.542000													38	258					1.7489e-18	2.44941e-18	0.859065	1	0
FAM107A	11170	broad.mit.edu	37	3	58555486	58555486	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:58555486C>A	ENST00000394481.1	-	3	660	c.102G>T	c.(100-102)ctG>ctT	p.L34L	FAM107A_ENST00000360997.2_Silent_p.L34L|FAM107A_ENST00000447756.2_Silent_p.L62L|FAM107A_ENST00000464064.1_Silent_p.L34L|FAM107A_ENST00000474531.1_Silent_p.L65L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	34					regulation of cell growth	nucleus	protein binding	p.L34L(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CGGGGTTCAGCAGCTTCTTGG	0.622000													14	45					1.3612e-06	1.53172e-06	0.479597	1	0
OR2L3	391192	broad.mit.edu	37	1	248224602	248224602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248224602G>T	ENST00000359959.3	+	1	619	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207L(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CATCTTTCTCGTGTTTCCCTT	0.493000													36	544					2.66277e-13	3.40025e-13	0.827153	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851711	14851711	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:14851711A>T	ENST00000358984.4	+	36	3591	c.3411A>T	c.(3409-3411)gtA>gtT	p.V1137V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1222								p.V1137V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAACAGTAACAAAAAGGG	0.353000													11	81					0	0	0.435327	0	0
OVCH1	341350	broad.mit.edu	37	12	29598303	29598303	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:29598303G>T	ENST00000318184.5	-	23	2788	c.2789C>A	c.(2788-2790)aCt>aAt	p.T930N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	930	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.T930N(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTCATGAAAGTCATTGAGTA	0.378000													38	110					4.40578e-31	6.97693e-31	0.819951	1	0
TMEM168	64418	broad.mit.edu	37	7	112424746	112424746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:112424746C>A	ENST00000312814.5	-	2	695	c.135G>T	c.(133-135)ttG>ttT	p.L45F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L45F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	45						integral to membrane|transport vesicle		p.L45F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATATAGCAACCAATAAATTGA	0.348000													19	132					3.5997e-14	4.72404e-14	0.624587	1	0
ZNF99	7652	broad.mit.edu	37	19	22951200	22951200	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:22951200T>A	ENST00000397104.3	-	3	195	c.196A>T	c.(196-198)Atc>Ttc	p.I66F	ZNF99_ENST00000596209.1_Missense_Mutation_p.I45F					zinc finger protein 99									p.I66F(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAGACAGCGATACCTGtttta	0.338000													9	54					0	0	0.307466	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896946	48896946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:48896946C>T	ENST00000394754.1	+	9	3290	c.3176C>T	c.(3175-3177)aCa>aTa	p.T1059I	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1012I|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T321I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1059I|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T355I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1059I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1012					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T4I(4)|p.T1059I(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCGGTGATACATCTTCCAAT	0.378000													27	177					0	0	0.706142	0	0
LRRN2	10446	broad.mit.edu	37	1	204588984	204588984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:204588984G>T	ENST00000367175.1	-	1	2349	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	LRRN2_ENST00000367177.3_Missense_Mutation_p.S46Y|LRRN2_ENST00000367176.3_Missense_Mutation_p.S46Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	46	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.S46Y(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCGCGGTAGGACGAGCGGGG	0.667000													19	98					1.10513e-12	1.39076e-12	0.624587	1	0
GRK5	2869	broad.mit.edu	37	10	121212201	121212201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:121212201A>T	ENST00000392870.2	+	14	1752	c.1423A>T	c.(1423-1425)Aag>Tag	p.K475*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.K370*|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	475	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.K475*(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGTACTGTAAGGACGTGCT	0.622000													5	22					0	0	0.248553	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143691	142143691	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:142143691G>T	ENST00000390373.2	-	0	304																											AGTCTGAGAGGGAGCAGCTGA	0.527000													44	300					8.78508e-14	1.13856e-13	0.870114	1	0
EPHA4	2043	broad.mit.edu	37	2	222428583	222428583	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:222428583C>A	ENST00000281821.2	-	3	732	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	EPHA4_ENST00000392071.4_Missense_Mutation_p.G180C|EPHA4_ENST00000409938.1_Missense_Mutation_p.G231C|EPHA4_ENST00000409854.1_Missense_Mutation_p.G231C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G231C(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACACAGGAGCCTCGAACTTCC	0.512000													35	189					4.62619e-21	6.71377e-21	0.796494	1	0
KRT16P6	353194	broad.mit.edu	37	17	16723389	16723389	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:16723389G>T	ENST00000417510.1	-	0	730																											CCACACTCATGCGCAGGTTCA	0.562000													10	165					0.000442599	0.000471563	0.335167	1	0
AHI1	54806	broad.mit.edu	37	6	135611635	135611635	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:135611635C>T	ENST00000367800.4	-	26	3730	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	AHI1_ENST00000417892.2_3'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.E1172K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1172						adherens junction|cilium|microtubule basal body		p.E1172K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGGTCCTCATGGCTCTGT	0.428000													40	680					0	0	0.870114	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090292	238090292	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:238090292G>T	ENST00000450451.1	+	0	1798					NR_027247.2																						ACTCCTACGTGGGCGACAAGG	0.602000													11	57					2.80697e-09	3.33889e-09	0.387290	1	0
CTSC	1075	broad.mit.edu	37	11	88027474	88027474	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:88027474C>T	ENST00000227266.5	-	7	1206	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	364					immune response	lysosome	cysteine-type endopeptidase activity	p.L364L(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGATGGACCAACTCAAGCT	0.458000													63	348					0	0	0.870114	0	0
CHRM3	1131	broad.mit.edu	37	1	240072343	240072343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:240072343G>C	ENST00000255380.4	+	5	2371	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGGGCTACTGGCTGTGCTAC	0.488000													51	142					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75055641	75055641	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:75055641C>G	ENST00000326665.5	-	12	2068	c.1850G>C	c.(1849-1851)aGg>aCg	p.R617T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.R420T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.							p.R617T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAGATGACCTTCTGGCACT	0.438000													22	120					0	0	0.681144	0	0
GPR12	2835	broad.mit.edu	37	13	27333529	27333529	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:27333529G>A	ENST00000405846.3	-	2	657	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	GPR12_ENST00000381436.2_Silent_p.L146L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	146						integral to plasma membrane		p.L146L(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGTACGTCAGAGCGTAGTAC	0.577000													20	109					0	0	0.667858	0	0
DNAH9	1770	broad.mit.edu	37	17	11514989	11514989	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:11514989T>C	ENST00000262442.3	+	4	864	c.796T>C	c.(796-798)Tat>Cat	p.Y266H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y266H|DNAH9_ENST00000579828.1_Missense_Mutation_p.Y266H|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	266	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y266H(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAATACATCTATAATCAACT	0.448000													33	181					0	0	0.769981	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558265	11558265	+	Silent	SNP	C	C	T	rs149732361		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:11558265C>T	ENST00000252455.2	+	11	1197	c.861C>T	c.(859-861)acC>acT	p.T287T	PRKCSH_ENST00000592741.1_Silent_p.T287T|PRKCSH_ENST00000589838.1_Silent_p.T287T|PRKCSH_ENST00000591462.1_Silent_p.T287T|PRKCSH_ENST00000587327.1_Silent_p.T287T|PRKCSH_ENST00000412601.1_Silent_p.T287T	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	287	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.T287T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CACTGCCCACCGACCTTCCAG	0.677000													4	24					0	0	0.278610	0	0
APMAP	57136	broad.mit.edu	37	20	24964571	24964571	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:24964571C>A	ENST00000217456.2	-	2	470	c.180G>T	c.(178-180)ctG>ctT	p.L60L	APMAP_ENST00000447138.1_Silent_p.L60L	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein									p.L60L(2)									GAGATTCCAGCAGCATCATGG	0.502000													21	101					1.1804e-14	1.56884e-14	0.667858	1	0
CD200R1	131450	broad.mit.edu	37	3	112648181	112648181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:112648181C>A	ENST00000471858.1	-	3	539	c.307G>T	c.(307-309)Gag>Tag	p.E103*	CD200R1_ENST00000308611.3_Nonsense_Mutation_p.E126*|CD200R1_ENST00000440122.2_Nonsense_Mutation_p.E126*|CD200R1_ENST00000490004.1_Nonsense_Mutation_p.E103*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.E81*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	103	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.E126*(4)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTATTCTCTCATCAGTACAG	0.443000													115	471					1.58894e-48	2.62805e-48	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745860	138745860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:138745860G>T	ENST00000242351.5	-	9	2334	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S673Y|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S795Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	673	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.S673Y(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAGTTTTGGAAGCTATGTT	0.403000													73	379					9.04243e-43	1.47684e-42	0.870114	1	0
RYR3	6263	broad.mit.edu	37	15	34115267	34115267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:34115267C>A	ENST00000389232.4	+	81	11136	c.11066C>A	c.(11065-11067)tCt>tAt	p.S3689Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3684Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3689					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3688Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTATGCAGTCTTGCAGGTAA	0.433000													8	59					2.17888e-05	2.37986e-05	0.335167	1	0
EMR1	2015	broad.mit.edu	37	19	6897298	6897298	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:6897298G>A	ENST00000312053.4	+	4	414	c.377G>A	c.(376-378)gGc>gAc	p.G126D	EMR1_ENST00000450315.3_Missense_Mutation_p.G126D|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.G126D|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	126	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G126D(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGAAAGCCGGGCAATTTCTCC	0.498000													7	155					0	0	0.335167	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468562	26468562	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:26468562G>A	ENST00000312541.5	+	8	1617	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E396K	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	457	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane		p.E457K(2)|p.E443K(2)		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						CCTGGACTATGAAGCTGGAGA	0.542000													41	230					0	0	0.847076	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594075	7594075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:7594075G>T	ENST00000342415.5	+	2	324	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	89					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	p.E89*(2)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TACCAAAGAAGAAGAGGTACC	0.333000													42	258					2.42038e-35	3.91621e-35	0.834066	1	0
IL7R	3575	broad.mit.edu	37	5	35876456	35876456	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:35876456C>G	ENST00000303115.3	+	8	1377	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	416					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P416P(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCACGCTGCCCCCTCCATTTT	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						12	69					0	0	0.557998	0	0
ITGAD	3681	broad.mit.edu	37	16	31424230	31424230	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31424230C>A	ENST00000389202.2	+	15	1828	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	593					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L593L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCAGGACCTCACCCAGGATG	0.652000													21	109					1.64113e-05	1.80386e-05	0.592651	1	0
N6AMT1	29104	broad.mit.edu	37	21	30252230	30252230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:30252230C>A	ENST00000303775.5	-	4	383	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	120					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.V120L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGATTAAACACCAGAAGATCA	0.289000													28	197					1.61004e-24	2.45991e-24	0.870114	1	0
WWTR1	25937	broad.mit.edu	37	3	149374727	149374727	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:149374727C>G	ENST00000465804.1	-	3	623	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	WWTR1_ENST00000467467.1_Missense_Mutation_p.E123Q|WWTR1_ENST00000360632.3_Missense_Mutation_p.E123Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	123					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.E123Q(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGTGGCAGCTCGTCGGTCACG	0.687000			T	CAMTA1	epitheliod hemangioendothelioma								5	28					0	0	0.307466	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973836	69973836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:69973836G>T	ENST00000305231.7	+	5	1152	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	369					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R369I(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAAAGACCAGAGCTTTTATA	0.418000													37	246					7.04047e-22	1.04504e-21	0.812448	1	0
PRR23C	389152	broad.mit.edu	37	3	138762887	138762887	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:138762887G>T	ENST00000413199.1	-	1	847	c.576C>A	c.(574-576)ggC>ggA	p.G192G	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.G192G	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	192	Pro-rich.							p.G192G(2)		breast(2)|lung(7)|skin(2)	11						CTCGGATGGGGCCCTCCCGGT	0.647000													9	47					1.5842e-08	1.86313e-08	0.435327	1	0
RYR3	6263	broad.mit.edu	37	15	34153353	34153353	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:34153353A>T	ENST00000389232.4	+	102	14509	c.14439A>T	c.(14437-14439)ttA>ttT	p.L4813F	RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.L4808F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4813					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L4812F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACATACATTACAAGAGCACA	0.373000													5	49					0	0	0.248553	0	0
COPS7B	64708	broad.mit.edu	37	2	232672272	232672272	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:232672272C>T	ENST00000350033.3	+	7	853	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	COPS7B_ENST00000409091.1_Missense_Mutation_p.R131W|COPS7B_ENST00000410024.1_Missense_Mutation_p.R238W|COPS7B_ENST00000410017.1_Silent_p.N260N|COPS7B_ENST00000409295.1_Missense_Mutation_p.R204W|COPS7B_ENST00000373608.3_Silent_p.N255N	NM_022730.1	NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	238					cullin deneddylation	cytoplasm|signalosome		p.R238W(1)		large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCTGGCTGAACGGGAGTGTCC	0.587000													4	62					0	0	0.150653	0	0
CDH6	1004	broad.mit.edu	37	5	31305452	31305452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:31305452C>A	ENST00000265071.2	+	7	1436	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q336K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q391K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACATCTTACAAATAAGAGA	0.468000													51	228					2.0833e-19	2.9737e-19	0.870114	1	0
COBL	23242	broad.mit.edu	37	7	51096323	51096323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:51096323C>T	ENST00000395542.2	-	12	2900	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	COBL_ENST00000265136.7_Missense_Mutation_p.E824K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	824								p.E824K(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCGGCCCTCATGGTGGGCA	0.627000													6	36					0	0	0.307466	0	0
ANKH	56172	broad.mit.edu	37	5	14746065	14746065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:14746065C>A	ENST00000284268.6	-	7	1159	c.829G>T	c.(829-831)Gcg>Tcg	p.A277S	ANKH_ENST00000535119.1_Missense_Mutation_p.A79S|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	277					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.A277S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCAAAATCGCCACTGCCTGC	0.567000													27	88					5.45727e-16	7.4822e-16	0.729181	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992633	43992633	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:43992633C>T	ENST00000282406.4	+	30	4488	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1460						cytoplasm|cytoskeleton|integral to membrane	binding	p.P1460S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCTCTGCTCCAGCACTGCT	0.502000													17	69					0	0	0.557998	0	0
OR8B8	26493	broad.mit.edu	37	11	124310713	124310713	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:124310713T>C	ENST00000328064.2	-	1	341	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGATGCTGTTCTTCTTTAA	0.423000													56	370					0	0	0.870114	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:15134401G>A	ENST00000266395.2	+	4	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(2)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000													66	192					0	0	0.870114	0	0
CASP4	837	broad.mit.edu	37	11	104825538	104825538	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:104825538A>G	ENST00000444739.2	-	2	1108	c.198T>C	c.(196-198)cgT>cgC	p.R66R	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Silent_p.R10R	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	66	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R66R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTCCTGCCATACGTTGCTTCT	0.358000													33	222					0	0	0.864702	0	0
FLG	2312	broad.mit.edu	37	1	152286758	152286758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:152286758C>A	ENST00000368799.1	-	3	639	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	202					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E202*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGTCTTTCACTTAGCCTC	0.328000									Ichthyosis				6	107					5.9392e-07	6.74144e-07	0.217242	1	0
FAM135B	51059	broad.mit.edu	37	8	139380193	139380193	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:139380193C>T	ENST00000395297.1	-	2	204	c.34G>A	c.(34-36)Gta>Ata	p.V12I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	12								p.V12I(2)|p.V12L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTAGCTCTACCGAAAACTCA	0.368000										HNSCC(54;0.14)			30	305					0	0	0.804634	0	0
WDR6	11180	broad.mit.edu	37	3	49050698	49050698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:49050698C>G	ENST00000395474.3	+	2	2101	c.1821C>G	c.(1819-1821)tgC>tgG	p.C607W	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.C526W|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	577					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.C577W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGTCACATGCCATGGTGGCT	0.577000													8	31					0	0	0.307466	0	0
PDE10A	10846	broad.mit.edu	37	6	165827162	165827162	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:165827162A>T	ENST00000366882.1	-	14	1229	c.1075T>A	c.(1075-1077)Tac>Aac	p.Y359N	PDE10A_ENST00000354448.4_Missense_Mutation_p.Y359N|PDE10A_ENST00000539869.2_Missense_Mutation_p.Y369N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	359	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Y359N(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAGCCTGTGTACAAGTCTACT	0.483000													13	87					0	0	0.435327	0	0
TOMM70A	9868	broad.mit.edu	37	3	100091564	100091564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:100091564G>T	ENST00000284320.5	-	9	1786	c.1338C>A	c.(1336-1338)taC>taA	p.Y446*		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	446					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.Y446*(9)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ATGCCTGGCGGTACTATAAAA	0.353000													6	58					0.000274275	0.000293424	0.307466	1	0
STOX1	219736	broad.mit.edu	37	10	70645915	70645915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:70645915G>T	ENST00000298596.6	+	3	2446	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R788M|STOX1_ENST00000421961.2_Missense_Mutation_p.R678M|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	788						cytoplasm|nucleolus	DNA binding	p.R788M(2)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACAATGGAGAGGGTTGAGTCT	0.458000													11	44					6.40141e-05	6.93375e-05	0.387290	1	0
MATN1	4146	broad.mit.edu	37	1	31194492	31194492	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:31194492G>T	ENST00000373765.4	-	2	236	c.201C>A	c.(199-201)gtC>gtA	p.V67V	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	67	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.V67V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACTCGATGACCTGGGACA	0.597000													5	35					0.00307968	0.00324144	0.278610	1	0
IL9R	3581	broad.mit.edu	37	X	155234093	155234093	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:155234093G>T	ENST00000424344.3	+	6	746	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000244174.5_Missense_Mutation_p.D148Y			Q01113	IL9R_HUMAN	interleukin 9 receptor	148					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTTAAGCTGGACCCGCCCTC	0.542000													16	78					4.30721e-22	6.42996e-22	0.592651	1	0
RALGPS1	9649	broad.mit.edu	37	9	129957388	129957388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:129957388G>T	ENST00000259351.5	+	12	1196	c.929G>T	c.(928-930)gGt>gTt	p.G310V	RALGPS1_ENST00000373434.1_Missense_Mutation_p.G310V|RALGPS1_ENST00000424082.2_Missense_Mutation_p.G310V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	310					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G310V(4)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTGGCTCCGGTTCTGCGAGG	0.622000													13	86					1.3612e-06	1.53172e-06	0.479597	1	0
PARD3B	117583	broad.mit.edu	37	2	205978257	205978257	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:205978257A>T	ENST00000406610.2	+	6	843	c.636A>T	c.(634-636)ccA>ccT	p.P212P	PARD3B_ENST00000358768.2_Silent_p.P212P|PARD3B_ENST00000351153.1_Silent_p.P212P|PARD3B_ENST00000462231.1_Silent_p.P212P|PARD3B_ENST00000349953.3_Silent_p.P212P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	212	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.P212P(4)|p.P213P(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGAGGCCCATTGGGAATAC	0.433000													14	63					0	0	0.575678	0	0
RGS3	5998	broad.mit.edu	37	9	116346655	116346655	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:116346655G>A	ENST00000374140.2	+	21	3172	c.2963G>A	c.(2962-2964)cGc>cAc	p.R988H	RGS3_ENST00000374134.3_Missense_Mutation_p.R309H|RGS3_ENST00000350696.5_Missense_Mutation_p.R988H|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.R707H|RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Missense_Mutation_p.R309H	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	988					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.R884H(1)|p.R988H(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCTGGGCCGCAATGGTGGC	0.597000													3	49					0	0	0.150653	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758166	25758166	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:25758166C>G	ENST00000586223.1	+	0	2600					NR_033892.1																						ctgcactgagccacaatatgg	0.592000													3	13					0	0	0.115264	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497613	1497613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:1497613C>A	ENST00000421627.2	+	2	888	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	331					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.Q274K(2)|p.Q296K(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACGCGCTGCAGAGCCCCTT	0.667000													23	115					4.59853e-10	5.54591e-10	0.693898	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976742	47976742	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:47976742G>A	ENST00000543600.1	-	2	523	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	PTCHD4_ENST00000339488.4_Missense_Mutation_p.L179F			Q6ZW05	CF138_HUMAN	patched domain containing 4	179						integral to membrane	hedgehog receptor activity	p.L179F(3)									TAGGTCTGGAGGTAGTAGGTG	0.502000													14	59					0	0	0.575678	0	0
CSMD3	114788	broad.mit.edu	37	8	113988108	113988108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:113988108G>T	ENST00000297405.5	-	7	1544	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q434K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q394K|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	434						integral to membrane|plasma membrane		p.Q434K(2)|p.Q394K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTCTATCTGTTCAGCATGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	117					9.86323e-18	1.37033e-17	0.667858	1	0
CHD8	57680	broad.mit.edu	37	14	21899280	21899280	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:21899280C>A	ENST00000399982.2	-	1	587	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	CHD8_ENST00000557364.1_Missense_Mutation_p.V175L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	175					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.V175L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTGTGCCACATGGGCACCA	0.557000													5	58					2.0095e-06	2.25635e-06	0.248553	1	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													7	55					0	0	0.361761	0	0
ERBB2	2064	broad.mit.edu	37	17	37864639	37864639	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:37864639G>A	ENST00000406381.2	+	5	711	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584450.1_Silent_p.Q97Q|ERBB2_ENST00000584601.1_Silent_p.Q67Q|ERBB2_ENST00000541774.1_Silent_p.Q82Q|ERBB2_ENST00000540147.1_Silent_p.Q67Q|ERBB2_ENST00000540042.1_Silent_p.Q67Q|ERBB2_ENST00000578199.1_Silent_p.Q67Q|ERBB2_ENST00000269571.5_Silent_p.Q97Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	97					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.Q97Q(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCCACTGCAGAGGCTGCGGA	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			12	103					0	0	0.520397	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:10920118C>G	ENST00000298232.7	-	18	1449	c.1082G>C	c.(1081-1083)aGc>aCc	p.S361T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S379T|TPTE_ENST00000342420.5_Missense_Mutation_p.S341T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													10	194					0	0	0.479597	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741088	146741088	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:146741088G>T	ENST00000361727.3	+	4	1008	c.492G>T	c.(490-492)ctG>ctT	p.L164L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	164	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L164L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGTGCCTCTGGATTGGAATG	0.443000										HNSCC(39;0.1)			30	229					7.11191e-15	9.47648e-15	0.769981	1	0
SLC6A5	9152	broad.mit.edu	37	11	20623178	20623178	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:20623178G>T	ENST00000525748.1	+	2	780	c.507G>T	c.(505-507)gtG>gtT	p.V169V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V169V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCACGTCCGTGCTCCCGGGCA	0.657000													9	41					1.61879e-10	1.97979e-10	0.411799	1	0
C1orf226	400793	broad.mit.edu	37	1	162353098	162353098	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:162353098G>A	ENST00000458626.2	+	2	616	c.444G>A	c.(442-444)ctG>ctA	p.L148L	C1orf226_ENST00000426197.2_Silent_p.L191L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	148								p.L191L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCAGCAGTCTGGAGTATGGGA	0.622000													9	31					0	0	0.361761	0	0
WDPCP	51057	broad.mit.edu	37	2	63349192	63349192	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:63349192C>A	ENST00000409120.1	-	12	5165		c.e12-1		WDPCP_ENST00000409199.1_Splice_Site|WDPCP_ENST00000272321.7_Splice_Site|WDPCP_ENST00000398544.3_Splice_Site			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector						cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCTGATTTCCTGCAAATAAA	0.269000													10	86					0.000978159	0.00103792	0.387290	1	0
MARCH3	115123	broad.mit.edu	37	5	126253786	126253786	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:126253786C>G	ENST00000308660.5	-	2	592	c.78G>C	c.(76-78)acG>acC	p.T26T	MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Silent_p.T26T	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	26					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	p.T26T(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AATCCTCCACCGTCTTCACCA	0.572000													6	94					0	0	0.278610	0	0
POT1	25913	broad.mit.edu	37	7	124475408	124475408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:124475408C>G	ENST00000357628.3	-	15	2028	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	POT1_ENST00000393329.1_Missense_Mutation_p.R346T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353000													49	291					0	0	0.870114	0	0
GLP2R	9340	broad.mit.edu	37	17	9792900	9792900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:9792900G>T	ENST00000262441.5	+	13	2053	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	GLP2R_ENST00000574745.1_Missense_Mutation_p.G334C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	514					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G514C(3)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGGGGAGCTGGGCGCCCAGCC	0.637000													11	52					3.86212e-05	4.19201e-05	0.361761	1	0
CCDC28A	25901	broad.mit.edu	37	6	139106400	139106400	+	Missense_Mutation	SNP	G	G	A	rs143442772		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:139106400G>A	ENST00000332797.6	+	4	784	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	210								p.R210Q(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAACATGTTCGGGGAATGCAG	0.403000													34	152					0	0	0.847076	0	0
PAX7	5081	broad.mit.edu	37	1	18960982	18960982	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:18960982C>G	ENST00000420770.2	+	2	354	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	PAX7_ENST00000400661.3_Missense_Mutation_p.Q91E|PAX7_ENST00000375375.3_Missense_Mutation_p.Q91E	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	91	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q91E(4)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TTGCCGCTACCAGGAGACCGG	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								8	24					0	0	0.278610	0	0
DYDC2	84332	broad.mit.edu	37	10	82122230	82122230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:82122230G>T	ENST00000372199.1	+	4	629	c.31G>T	c.(31-33)Gga>Tga	p.G11*	DYDC2_ENST00000372198.1_Nonsense_Mutation_p.G25*|DYDC2_ENST00000444807.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000256039.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000372197.1_Nonsense_Mutation_p.G11*			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	11							protein binding	p.G11*(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAGGTGCTTTGGAAATTGCCT	0.443000													15	67					1.3612e-06	1.53172e-06	0.479597	1	0
LTBP2	4053	broad.mit.edu	37	14	75052556	75052556	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:75052556C>A	ENST00000261978.4	-	3	1217		c.e3+1		LTBP2_ENST00000556690.1_Splice_Site|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGGGACTTACCCAGCTGGTG	0.647000													13	38					1.67942e-08	1.96624e-08	0.539581	1	0
CFI	3426	broad.mit.edu	37	4	110670479	110670479	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:110670479T>A	ENST00000394634.2	-	10	1252		c.e10-2		CFI_ENST00000512148.1_Splice_Site|CFI_ENST00000394635.3_Splice_Site	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I						complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAGGTCTCCCTGTAAAAGACA	0.448000													25	158					0	0	0.750413	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003139	16003139	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:16003139C>G	ENST00000221700.5	-	5	600	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E20Q|CYP4F2_ENST00000592328.1_Missense_Mutation_p.E169Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	169				E -> D (in Ref. 7; AAH67440).	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.E169Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACACTCTCATTGAAAATC	0.507000													81	564					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113304844	113304844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:113304844C>G	ENST00000297405.5	-	55	8954	c.8710G>C	c.(8710-8712)Ggg>Cgg	p.G2904R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2834R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2864R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2735R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2904	Sushi 19.					integral to membrane|plasma membrane		p.G2904R(2)|p.G2864R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAGATACCCAATATTGCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	419					0	0	0.779181	0	0
FAT3	120114	broad.mit.edu	37	11	92531802	92531802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:92531802G>A	ENST00000298047.6	+	9	5640	c.5623G>A	c.(5623-5625)Gat>Aat	p.D1875N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1725N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1875N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1875	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D1875N(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGTGACAGATGTGAATGA	0.453000										TCGA Ovarian(4;0.039)			10	72					0	0	0.335167	0	0
PRMT1	3276	broad.mit.edu	37	19	50188237	50188237	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:50188237G>A	ENST00000532489.1	+	8	1070	c.564G>A	c.(562-564)gaG>gaA	p.E188E	PRMT1_ENST00000391851.4_Silent_p.E216E|PRMT1_ENST00000454376.2_Silent_p.E234E			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	215						cytoplasm	protein methyltransferase activity	p.E210E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCATTAAGGAGCCCCTAGTGG	0.612000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	76					0	0	0.608945	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504896	95504896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:95504896T>C	ENST00000297591.5	-	21	4867	c.4792A>G	c.(4792-4794)Acc>Gcc	p.T1598A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1598					mRNA processing|RNA splicing	nucleus		p.T1598A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTATAAAGGTCTCATGCTTG	0.368000													24	181					0	0	0.706142	0	0
PACSIN3	29763	broad.mit.edu	37	11	47204070	47204070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:47204070C>A	ENST00000539589.1	-	4	437	c.95G>T	c.(94-96)gGg>gTg	p.G32V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G32V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	32	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.G32V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAGCCGGTGCCCGTCCTCCAC	0.652000													5	18					0.248553	0.250476	0.248553	1	0
MYH2	4620	broad.mit.edu	37	17	10428361	10428361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10428361C>A	ENST00000245503.5	-	34	5068	c.4684G>T	c.(4684-4686)Gga>Tga	p.G1562*	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.G1562*|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1562					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1562*(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGATCTTTCCCTCTTCATGT	0.403000													28	158					1.06647e-15	1.45074e-15	0.788014	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735071	37735071	+	Splice_Site	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:37735071T>G	ENST00000330843.4	-	2	384		c.e2-2		RAB11FIP1_ENST00000287263.4_Splice_Site|RAB11FIP1_ENST00000524118.1_5'UTR|RAB11FIP1_ENST00000522727.1_Splice_Site	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)						protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTATACCACCTGAAAGGAGAA	0.463000													21	128					0	0	0.654019	0	0
ANO6	196527	broad.mit.edu	37	12	45782068	45782068	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:45782068G>A	ENST00000320560.8	+	11	1492	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.V451V|ANO6_ENST00000441606.2_Silent_p.V412V|ANO6_ENST00000425752.2_Silent_p.V430V|ANO6_ENST00000435642.1_Silent_p.V430V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	430					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.V430V(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCACGTAGTGATAAATGAGA	0.463000													121	424					0	0	0.870114	0	0
TDRD5	163589	broad.mit.edu	37	1	179621246	179621246	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:179621246G>A	ENST00000444136.1	+	13	2324	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E692K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E692K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	692					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E692K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTCTTGACAGAACTGGGTTA	0.413000													56	450					0	0	0.870114	0	0
C4orf17	84103	broad.mit.edu	37	4	100451036	100451036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:100451036C>A	ENST00000514652.1	+	5	821	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	C4orf17_ENST00000326581.4_Missense_Mutation_p.S156Y|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	156								p.S156Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GGCTCCTGTTCTTCAGGGATG	0.368000													30	163					3.09479e-21	4.55476e-21	0.827153	1	0
RSBN1	54665	broad.mit.edu	37	1	114310969	114310969	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:114310969G>A	ENST00000261441.5	-	5	1764	c.1701C>T	c.(1699-1701)acC>acT	p.T567T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	567						nucleus		p.T567T(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTCACTGGTCCGAGGTA	0.433000													12	112					0	0	0.457914	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164231	150164231	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:150164231G>A	ENST00000307271.3	+	2	1019	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	149						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.E149K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGATTTCATTGAAAAAAACAA	0.448000													17	199					0	0	0.592651	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384244	236384244	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:236384244G>A	ENST00000354619.5	-	15	1432	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	411					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.L411L(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AATATCTTCAGGGCAGTTCCT	0.323000													3	26					0	0	0.150653	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:140562928C>G	ENST00000361016.2	+	1	1949	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000													11	80					0	0	0.361761	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324130	61324130	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:61324130G>A	ENST00000283752.5	-	7	846	c.703C>T	c.(703-705)Cca>Tca	p.P235S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	235					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P235S(2)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTTTGTATGGTATTTCCAGG	0.408000													23	311					0	0	0.667858	0	0
OCA2	4948	broad.mit.edu	37	15	28211878	28211878	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:28211878A>T	ENST00000354638.3	-	15	1749	c.1594T>A	c.(1594-1596)Tgg>Agg	p.W532R	OCA2_ENST00000382996.2_Missense_Mutation_p.W532R|OCA2_ENST00000353809.5_Missense_Mutation_p.W508R	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	532					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.W532R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTCTGTTCCAGTAAAGGAGT	0.443000									Oculocutaneous Albinism				18	94					0	0	0.575678	0	0
CHD9	80205	broad.mit.edu	37	16	53330938	53330938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:53330938A>T	ENST00000566029.1	+	30	5790	c.5581A>T	c.(5581-5583)Aga>Tga	p.R1861*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1861*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R1861*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACCCTGACAGAGGCCAATT	0.358000													34	128					0	0	0.834066	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165312	161165312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:161165312C>A	ENST00000367996.4	-	4	1632	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	402	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.E402*(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCAGGGCTCCTCAGGATCC	0.547000													46	276					1.19451e-25	1.84125e-25	0.870114	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156695	55156695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:55156695G>T	ENST00000257290.5	+	22	3427	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E792D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1032					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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	p.E1032D(2)		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)	CTGAGGAGGAGGACCTGGGCA	0.587000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	226					5.8336e-16	7.97718e-16	0.779181	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374522	95374522	+	RNA	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:95374522A>G	ENST00000494840.1	-	0	1339					NR_077228.1																						TTATTTATTAACTTCAACAAT	0.433000													4	25					0	0	0.184627	0	0
SLC6A15	55117	broad.mit.edu	37	12	85279239	85279239	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:85279239A>T	ENST00000450363.3	-	4	1007	c.549T>A	c.(547-549)ccT>ccA	p.P183P	SLC6A15_ENST00000552192.1_Silent_p.P76P|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Silent_p.P183P	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	183					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P183P(4)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCACCAAAGGACACTGAT	0.368000													25	54					0	0	0.693898	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													12	325					0	0	0.479597	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211830	107211830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:107211830C>T	ENST00000400198.3	-	2	767	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ARGLU1_ENST00000375926.1_Silent_p.K24K	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	175	Glu-rich.							p.E175K(2)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGCTCGAGTTCTTCGAGCAAC	0.488000													25	153					0	0	0.681144	0	0
TICRR	90381	broad.mit.edu	37	15	90128938	90128938	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:90128938G>T	ENST00000268138.7	+	4	1281		c.e4-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator									p.?(2)									TTCTCACGTAGGTTGCTGATG	0.448000													3	35					0.115264	0.118214	0.115264	1	0
OMD	4958	broad.mit.edu	37	9	95179363	95179363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:95179363G>T	ENST00000375550.4	-	2	753	c.478C>A	c.(478-480)Ctt>Att	p.L160I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	160					cell adhesion	proteinaceous extracellular matrix		p.L160I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GATTTAGGAAGAGGAAATGGA	0.348000			T	USP6	aneurysmal bone cysts								18	143					4.96729e-08	5.68782e-08	0.575678	1	0
RGPD3	653489	broad.mit.edu	37	2	107041047	107041047	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:107041047A>T	ENST00000409886.3	-	20	3463	c.3376T>A	c.(3376-3378)Tca>Aca	p.S1126T	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1126	RanBD1 1.				intracellular transport		binding	p.S1126T(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTCTATCTGATCCAGAGAGG	0.433000													60	591					0	0	0.870114	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753502	25753502	+	RNA	SNP	C	C	T	rs35094692	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:25753502C>T	ENST00000586223.1	+	0	1512					NR_033892.1																						CTCGGGCTCACCCCGTGCCTG	0.567000													4	69					0	0	0.278610	0	0
CD1E	913	broad.mit.edu	37	1	158325684	158325684	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158325684T>C	ENST00000444681.2	+	3	689	c.396T>C	c.(394-396)caT>caC	p.H132H	CD1E_ENST00000368156.1_Silent_p.H141H|CD1E_ENST00000368160.3_Silent_p.H231H|CD1E_ENST00000368165.3_Silent_p.H141H|CD1E_ENST00000368164.3_Silent_p.H42H|CD1E_ENST00000368157.1_Silent_p.H42H|CD1E_ENST00000368166.3_Silent_p.H42H|CD1E_ENST00000368163.3_Silent_p.H231H|CD1E_ENST00000368155.3_Silent_p.H141H|CD1E_ENST00000368161.3_Silent_p.H231H|CD1E_ENST00000368167.3_Silent_p.H231H|CD1E_ENST00000368154.1_Silent_p.H42H|CD1E_ENST00000452291.2_Silent_p.H42H|CD1E_ENST00000434258.1_Silent_p.H229H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	231					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.H231H(2)		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)					TTGTGTGCCATGTCTCAGGAT	0.582000													39	108					0	0	0.859065	0	0
MS4A6E	245802	broad.mit.edu	37	11	60102398	60102398	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:60102398C>G	ENST00000300182.4	+	1	95	c.30C>G	c.(28-30)acC>acG	p.T10T		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	10			T -> A (in dbSNP:rs2304934).			integral to membrane	receptor activity	p.T10T(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CCAATGAGACCATCATAATGC	0.443000													30	216					0	0	0.834066	0	0
CHD4	1108	broad.mit.edu	37	12	6697022	6697022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:6697022C>G	ENST00000309577.6	-	24	3722	c.3559G>C	c.(3559-3561)Gtg>Ctg	p.V1187L	CHD4_ENST00000544484.1_Missense_Mutation_p.V1184L|CHD4_ENST00000544040.1_Missense_Mutation_p.V1180L|CHD4_ENST00000357008.2_Missense_Mutation_p.V1187L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1187	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V1187L(4)		central_nervous_system(2)	2						TTCTTTGCCACCTGCGTGATG	0.517000													14	229					0	0	0.457914	0	0
OR4P4	81300	broad.mit.edu	37	11	55405957	55405957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:55405957C>G	ENST00000314612.2	+	1	124	c.124C>G	c.(124-126)Ctc>Gtc	p.L42V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L42V(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGGAAACTTACTCATAATGAT	0.383000													47	113					0	0	0.870114	0	0
THADA	63892	broad.mit.edu	37	2	43801863	43801863	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:43801863C>T	ENST00000403856.1	-	12	1488	c.1341G>A	c.(1339-1341)ttG>ttA	p.L447L	THADA_ENST00000405006.4_Silent_p.L447L|THADA_ENST00000402360.2_Silent_p.L447L|THADA_ENST00000415080.2_Silent_p.L157L|THADA_ENST00000404790.1_Silent_p.L447L|THADA_ENST00000405975.2_Silent_p.L447L|THADA_ENST00000330266.7_Silent_p.L157L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	447							binding	p.L447L(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATGCCATTCCAATCGTAAAA	0.403000													26	164					0	0	0.717897	0	0
OVCH1	341350	broad.mit.edu	37	12	29598250	29598250	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:29598250C>T	ENST00000318184.5	-	23	2841	c.2842G>A	c.(2842-2844)Ggt>Agt	p.G948S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	948	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G948S(3)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAAATGCACCTCGTACAAGG	0.373000													55	171					0	0	0.870114	0	0
SREBF2	6721	broad.mit.edu	37	22	42271363	42271363	+	Missense_Mutation	SNP	G	G	A	rs141522422	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:42271363G>A	ENST00000361204.4	+	6	1278	c.1112G>A	c.(1111-1113)aGg>aAg	p.R371K		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	371	Helix-loop-helix motif.|Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	p.R371K(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCGTTCTGAGGAAGGCCATT	0.473000													4	108					0	0	0.184627	0	0
FAM124B	79843	broad.mit.edu	37	2	225266018	225266018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:225266018G>T	ENST00000389874.3	-	1	693	c.468C>A	c.(466-468)taC>taA	p.Y156*	FAM124B_ENST00000409685.3_Nonsense_Mutation_p.Y156*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Y156*	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	156							protein binding	p.Y156*(4)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGATCATCTCGTAGAGTCTGA	0.522000													26	195					4.39465e-27	6.83466e-27	0.769981	1	0
RGS20	8601	broad.mit.edu	37	8	54859271	54859271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:54859271C>A	ENST00000297313.3	+	4	798	c.706C>A	c.(706-708)Cac>Aac	p.H236N	RGS20_ENST00000276500.4_Missense_Mutation_p.H89N|RGS20_ENST00000344277.6_Missense_Mutation_p.H121N|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_5'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	236					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H236N(2)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AATAGCTTCCCACGAACTCAG	0.408000													9	130					5.50884e-06	6.15902e-06	0.411799	1	0
BCHE	590	broad.mit.edu	37	3	165548428	165548428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:165548428G>T	ENST00000264381.3	-	2	560	c.394C>A	c.(394-396)Cca>Aca	p.P132T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	132					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.P132T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GCATTTTTTGGTTTAGGTGCT	0.398000													24	100					7.38237e-10	8.84187e-10	0.706142	1	0
MARK1	4139	broad.mit.edu	37	1	220825386	220825386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:220825386G>T	ENST00000402574.1	+	15	2227	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	MARK1_ENST00000366918.4_Missense_Mutation_p.V522F|MARK1_ENST00000366917.4_Missense_Mutation_p.V544F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	544					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V544F(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCCTCTGCTGTCCCCTCAGC	0.498000													19	144					2.39556e-15	3.23339e-15	0.639603	1	0
NUDCD1	84955	broad.mit.edu	37	8	110334668	110334668	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110334668T>C	ENST00000239690.4	-	2	517	c.143A>G	c.(142-144)gAt>gGt	p.D48G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D19G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	48								p.D48G(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATATTGATCATCTCGAAGTTT	0.368000													40	239					0	0	0.870114	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													5	79					0	0	0.184627	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784480	27784480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:27784480G>T	ENST00000261588.4	+	23	4278	c.4259G>T	c.(4258-4260)gGc>gTc	p.G1420V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1420								p.G1420V(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCCTCACCGGCCTGGAGCTG	0.498000													6	19					0.00198382	0.00209225	0.248553	1	0
C10orf90	118611	broad.mit.edu	37	10	128118409	128118409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:128118409G>C	ENST00000284694.7	-	7	2028	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	C10orf90_ENST00000454341.1_Missense_Mutation_p.F539L|C10orf90_ENST00000480379.1_Missense_Mutation_p.F40L|C10orf90_ENST00000356858.3_Missense_Mutation_p.F589L|C10orf90_ENST00000544758.1_Missense_Mutation_p.F733L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	636								p.F636L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTTGGGTTTGAACAAGTTAT	0.378000													15	95					0	0	0.539581	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667825	60667825	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:60667825C>A	ENST00000400324.4	-	4	652	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DIAPH3_ENST00000400319.1_Silent_p.R74R|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400330.1_Silent_p.R144R|DIAPH3_ENST00000377908.2_Silent_p.R133R|DIAPH3_ENST00000267215.4_Silent_p.R144R	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTCCTTTTCCCGCAATGGTG	0.333000													14	82					0.000132079	0.00014247	0.575678	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597000													40	110					0	0	0.847076	0	0
GFRAL	389400	broad.mit.edu	37	6	55223728	55223728	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:55223728G>A	ENST00000340465.2	+	6	830	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	248						integral to membrane	receptor activity	p.V248V(2)		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)			GGCAGCGTGTGACTAGAAAGT	0.373000													90	471					0	0	0.870114	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825920	146825920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:146825920T>G	ENST00000361727.3	+	7	1591	c.1075T>G	c.(1075-1077)Tca>Gca	p.S359A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	359	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S359A(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTAGAGCCCTCAAATGTGGT	0.358000										HNSCC(39;0.1)			16	131					0	0	0.557998	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123471	108123471	+	Splice_Site	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:108123471G>C	ENST00000374720.3	+	8	1007		c.e8-1		SLC44A1_ENST00000374723.1_Splice_Site|SLC44A1_ENST00000374724.1_Splice_Site|SLC44A1_ENST00000343170.7_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1							integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.?(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGTCTCCAGGAGGCACAGG	0.408000													24	161					0	0	0.717897	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013262	183013262	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:183013262T>A	ENST00000328913.3	-	13	1798	c.1501A>T	c.(1501-1503)Aaa>Taa	p.K501*	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.K501*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K501*(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCTGGGCTTTGGCCTACAGT	0.488000													56	167					0	0	0.870114	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													5	23					0	0	0.335167	0	0
KCNT2	343450	broad.mit.edu	37	1	196395118	196395118	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:196395118C>A	ENST00000367433.5	-	11	1086	c.984_splice	c.e11-1	p.D329_splice	KCNT2_ENST00000367431.4_Splice_Site_p.D329_splice|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Splice_Site_p.D329_splice			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	329						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D329Y(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATAATAATCCTATTCAAAA	0.318000													16	48					3.32936e-07	3.78733e-07	0.539581	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777518	43777518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:43777518C>T	ENST00000389420.3	-	31	4639	c.4640G>A	c.(4639-4641)tGt>tAt	p.C1547Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1547	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.C1547Y(2)|p.R1547K(2)		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)		TTTTCTCTCACATGATGTTGA	0.348000													74	235					0	0	0.870114	0	0
NLRP2	55655	broad.mit.edu	37	19	55508760	55508760	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:55508760C>T	ENST00000543010.1	+	12	3098	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	NLRP2_ENST00000537859.1_Silent_p.V963V|NLRP2_ENST00000538819.1_Silent_p.V961V|NLRP2_ENST00000427260.2_Silent_p.V962V|NLRP2_ENST00000263437.6_Silent_p.V982V|NLRP2_ENST00000448584.2_Silent_p.V985V|NLRP2_ENST00000339757.7_Silent_p.V963V|NLRP2_ENST00000391721.4_Silent_p.V961V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	985					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V985V(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGCCTCGTCACTCTGGACC	0.542000													34	143					0	0	0.812448	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	73					1.28384e-07	1.46363e-07	0.608945	1	0
TBC1D1	23216	broad.mit.edu	37	4	38097636	38097636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:38097636G>T	ENST00000261439.4	+	14	2678	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.E869*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	775						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TACAGTGTGGGAAAAGATGCT	0.413000													36	235					4.16155e-14	5.434e-14	0.840704	1	0
IL1F10	84639	broad.mit.edu	37	2	113832364	113832364	+	Silent	SNP	C	C	T	rs34320972	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:113832364C>T	ENST00000393197.2	+	3	604	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_ENST00000341010.2_Silent_p.I61I|IL1F10_ENST00000337569.3_Silent_p.I61I	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	61						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I61I(2)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582000													7	130					0	0	0.248553	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:150840204C>G	ENST00000370357.4	+	13	1635	c.1390C>G	c.(1390-1392)Ctc>Gtc	p.L464V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	464						nucleus	signal transducer activity	p.L464V(4)|p.L464F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000													26	106					0	0	0.750413	0	0
CGNL1	84952	broad.mit.edu	37	15	57731244	57731244	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:57731244A>G	ENST00000281282.5	+	2	1125	c.1047A>G	c.(1045-1047)tcA>tcG	p.S349S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	349	Head.					myosin complex|tight junction	motor activity	p.S349S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATACAGGATCAATTCCTGGTG	0.428000													22	97					0	0	0.681144	0	0
TLN2	83660	broad.mit.edu	37	15	62993362	62993362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:62993362C>G	ENST00000561311.1	+	16	1875	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q549E			Q9Y4G6	TLN2_HUMAN	talin 2	549					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.Q549E(2)		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						AATCCATTCTCAAGTTGATGC	0.473000													16	65					0	0	0.624587	0	0
AMOT	154796	broad.mit.edu	37	X	112024171	112024171	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:112024171T>A	ENST00000371959.3	-	9	2415	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S	AMOT_ENST00000371962.1_Missense_Mutation_p.T574S|AMOT_ENST00000371958.1_Missense_Mutation_p.T574S|AMOT_ENST00000304758.1_Missense_Mutation_p.T397S|AMOT_ENST00000524145.1_Missense_Mutation_p.T806S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	806					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T806S(2)|p.T397S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGGGAGCCAGTCAGGGTGGAT	0.522000													50	129					0	0	0.870114	0	0
GFPT1	2673	broad.mit.edu	37	2	69556903	69556903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:69556903C>A	ENST00000357308.4	-	16	1688	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	GFPT1_ENST00000361060.4_Missense_Mutation_p.V486L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	504	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.V486L(2)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCAAACATCACAAGGGATACA	0.398000													36	251					1.00953e-15	1.37687e-15	0.864702	1	0
SLC12A2	6558	broad.mit.edu	37	5	127516628	127516628	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:127516628T>A	ENST00000262461.2	+	23	3343	c.3154T>A	c.(3154-3156)Tgt>Agt	p.C1052S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.C1036S|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1052					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.C1052S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAAAGACTGTAAGATCAG	0.328000													116	300					0	0	0.870114	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814500	106814500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:106814500G>C	ENST00000407775.2	+	8	2440	c.2190G>C	c.(2188-2190)caG>caC	p.Q730H	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q461H|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	730					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	p.Q730H(2)		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)			CTGCCATGCAGAGAACCATGC	0.522000													11	68					0	0	0.387290	0	0
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:135438316C>A	ENST00000394143.1	+	9	7210	c.6919C>A	c.(6919-6921)Cga>Aga	p.R2307R	GPR112_ENST00000394141.1_Silent_p.R2102R|GPR112_ENST00000412101.1_Silent_p.R2102R|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.R2307R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2307R(3)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTCATGGATCGAGCTATTGT	0.343000													33	96					2.2871e-25	3.51498e-25	0.834066	1	0
FOPNL	123811	broad.mit.edu	37	16	15967411	15967411	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:15967411C>A	ENST00000255759.6	-	4	414	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	FOPNL_ENST00000573396.1_Intron|FOPNL_ENST00000575744.1_Missense_Mutation_p.G63W|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000573429.1_Missense_Mutation_p.G153W|FOPNL_ENST00000575073.1_Intron	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	129					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	p.G129W(2)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AGTGAAGGCCCTTTCAGAAAT	0.418000													40	150					3.54909e-21	5.19403e-21	0.859065	1	0
FANK1	92565	broad.mit.edu	37	10	127685120	127685120	+	Splice_Site	SNP	C	C	T	rs141545587		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:127685120C>T	ENST00000368695.1	+	5	504	c.380_splice	c.e5-1	p.R128_splice	FANK1_ENST00000368693.1_Splice_Site_p.R134_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	134						cytoplasm|nucleus		p.R134C(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TTTCCCAAGCCGTGTTAAGGT	0.448000													42	315					0	0	0.870114	0	0
FRZB	2487	broad.mit.edu	37	2	183723563	183723563	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:183723563T>A	ENST00000295113.4	-	2	1088		c.e2-2			NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein						brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TAGGAAAATCTGAAAGGAGGT	0.348000													49	172					0	0	0.870114	0	0
VPS13B	157680	broad.mit.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:100205158C>G	ENST00000395996.1	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000355155.1_Silent_p.L796L|VPS13B_ENST00000358544.2_Silent_p.L796L|VPS13B_ENST00000357162.2_Silent_p.L796L|VPS13B_ENST00000521932.1_3'UTR			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373000													15	432					0	0	0.520397	0	0
OR5L1	219437	broad.mit.edu	37	11	55579766	55579766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:55579766C>A	ENST00000333973.2	+	1	913	c.824C>A	c.(823-825)aCc>aAc	p.T275N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGTGGCCACCGTGTTCTAC	0.468000													32	142					3.78316e-11	4.70412e-11	0.819951	1	0
OR51L1	119682	broad.mit.edu	37	11	5020771	5020771	+	Missense_Mutation	SNP	C	C	A	rs150980273	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:5020771C>A	ENST00000321543.1	+	1	559	c.559C>A	c.(559-561)Cta>Ata	p.L187I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187I(2)		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)		CCAGGATGTTCTAAGATTATC	0.448000													52	347					2.14255e-21	3.16223e-21	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:138764850G>C	ENST00000242351.5	-	4	1153	c.837C>G	c.(835-837)atC>atG	p.I279M	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I279M|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I279M	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582000													14	170					0	0	0.457914	0	0
NPAP1	23742	broad.mit.edu	37	15	24923924	24923924	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:24923924T>G	ENST00000329468.2	+	1	3384	c.2910T>G	c.(2908-2910)agT>agG	p.S970R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S970R(2)									ACAATGCAAGTGCTTTCCCCA	0.478000													13	71					0	0	0.435327	0	0
FAM83B	222584	broad.mit.edu	37	6	54805781	54805781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:54805781C>A	ENST00000306858.7	+	5	2128	c.2012C>A	c.(2011-2013)tCa>tAa	p.S671*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	671								p.S671*(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTGACAACTCAAAAGCCAAC	0.353000													13	100					1.5739e-10	1.93396e-10	0.500413	1	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													6	59					0	0	0.335167	0	0
DROSHA	29102	broad.mit.edu	37	5	31526186	31526186	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:31526186C>A	ENST00000511367.2	-	4	1098	c.854_splice	c.e4+1	p.R285_splice	DROSHA_ENST00000442743.1_Splice_Site_p.R285_splice|DROSHA_ENST00000513349.1_Splice_Site_p.R285_splice|DROSHA_ENST00000344624.3_Splice_Site_p.R285_splice	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	285	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R285I(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCGGTTTACCTGCTCCGTTC	0.527000													44	157					1.54886e-18	2.17509e-18	0.870114	1	0
CDH7	1005	broad.mit.edu	37	18	63547963	63547963	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:63547963C>A	ENST00000397968.2	+	12	2617	c.2191C>A	c.(2191-2193)Cag>Aag	p.Q731K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q731K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	731					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q731K(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACTCCCTGCAGACATATGC	0.398000													23	127					6.32553e-13	7.99903e-13	0.681144	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:140346519G>A	ENST00000289269.5	+	1	700	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		56	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCGGCGCGCTCGTGGGCA	0.692000													3	4					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	216251604	216251604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216251604C>G	ENST00000366943.2	-	27	5785	c.5399G>C	c.(5398-5400)tGg>tCg	p.W1800S	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W1800S|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1800	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W1800S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTTTATTCCACTTTCCATT	0.433000										HNSCC(13;0.011)			207	523					0	0	0.870114	0	0
PTPN9	5780	broad.mit.edu	37	15	75766070	75766070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:75766070C>A	ENST00000306726.2	-	10	1680	c.1168G>T	c.(1168-1170)Gta>Tta	p.V390L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	390	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.V390L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCCATACCATGAGCCAG	0.443000													55	233					1.77791e-30	2.79847e-30	0.870114	1	0
MYO1C	4641	broad.mit.edu	37	17	1385813	1385813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:1385813T>A	ENST00000359786.5	-	5	910	c.586A>T	c.(586-588)Agc>Tgc	p.S196C	MYO1C_ENST00000575158.1_Missense_Mutation_p.S161C|MYO1C_ENST00000361007.2_Missense_Mutation_p.S161C|MYO1C_ENST00000545534.2_Missense_Mutation_p.S172C|MYO1C_ENST00000438665.2_Missense_Mutation_p.S177C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	196	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.S161C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAACCTGCTGGAGTTATCG	0.562000													12	50					0	0	0.457914	0	0
ITGA8	8516	broad.mit.edu	37	10	15688991	15688991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:15688991G>T	ENST00000378076.3	-	12	1414	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	354					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P354H(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACTTCTCTGGGGTTGCTCTC	0.507000													26	153					3.65163e-15	4.89074e-15	0.706142	1	0
SLC6A5	9152	broad.mit.edu	37	11	20668466	20668466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:20668466C>G	ENST00000525748.1	+	14	2329	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	686					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P686A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTTGTAACCCCAACCATTTT	0.408000													14	205					0	0	0.457914	0	0
EPHA6	285220	broad.mit.edu	37	3	96706286	96706286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:96706286G>T	ENST00000389672.5	+	3	601	c.563G>T	c.(562-564)cGt>cTt	p.R188L	EPHA6_ENST00000542517.1_Missense_Mutation_p.R94L|EPHA6_ENST00000470610.2_Missense_Mutation_p.R188L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	93	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R94L(4)|p.R188L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGATCTCCCGTGATGCAGCT	0.403000													86	220					1.3009e-50	2.1585e-50	0.870114	1	0
FATE1	89885	broad.mit.edu	37	X	150889897	150889897	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:150889897A>T	ENST00000370350.3	+	3	350	c.265A>T	c.(265-267)Aga>Tga	p.R89*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	89						endoplasmic reticulum|integral to membrane		p.R89*(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAATGCTGAGAGAATCAGG	0.542000													41	78					0	0	0.859065	0	0
ABCA6	23460	broad.mit.edu	37	17	67102211	67102211	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:67102211C>T	ENST00000284425.2	-	19	2705	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	844					transport	integral to membrane	ATP binding|ATPase activity	p.R844H(2)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTTTAAGAAACGGAGCCGTGC	0.433000													23	164					0	0	0.740014	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508135	65508135	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:65508135C>T	ENST00000355045.2	-	2	276		c.e2+1			NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.?(2)									CAGAGCCTTACCTCTCAGACT	0.542000													69	707					0	0	0.870114	0	0
LOC645752	645752	broad.mit.edu	37	15	78213760	78213760	+	RNA	SNP	C	C	T	rs4886968	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:78213760C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTATTGCAGGCGGCCAGCCAG	0.542000													3	23					0	0	0.150653	0	0
FNDC1	84624	broad.mit.edu	37	6	159654335	159654335	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:159654335T>A	ENST00000297267.9	+	11	2991	c.2791T>A	c.(2791-2793)Tcc>Acc	p.S931T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S868T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	931						extracellular region		p.S931T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAACCCCAAATCCACAGGGGC	0.612000													9	47					0	0	0.387290	0	0
OR6V1	346517	broad.mit.edu	37	7	142749605	142749605	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:142749605C>G	ENST00000418316.1	+	1	189	c.168C>G	c.(166-168)ccC>ccG	p.P56P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56P(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TACATACACCCATGTACTTCT	0.498000													119	653					0	0	0.870114	0	0
DNAH1	25981	broad.mit.edu	37	3	52430796	52430796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:52430796G>A	ENST00000420323.2	+	72	11854	c.11593G>A	c.(11593-11595)Gat>Aat	p.D3865N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3930	AAA 6 (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	p.D3929N(2)|p.D3865N(2)		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)		GGACGAATATGATGACATCCC	0.582000													20	143					0	0	0.667858	0	0
C17orf66	256957	broad.mit.edu	37	17	34192287	34192287	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:34192287G>T	ENST00000311880.2	-	3	400	c.252C>A	c.(250-252)caC>caA	p.H84Q	C17orf66_ENST00000592980.1_Missense_Mutation_p.H84Q|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	84							binding	p.H84Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CATACAGGTCGTGCCAGTGCG	0.507000													46	213					9.52127e-25	1.45899e-24	0.870114	1	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:32631037G>T	ENST00000266086.4	-	8	719	c.708C>A	c.(706-708)taC>taA	p.Y236*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000													50	393					3.31993e-32	5.3221e-32	0.870114	1	0
C9orf64	84267	broad.mit.edu	37	9	86559772	86559772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:86559772G>A	ENST00000376344.3	-	3	946	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.Q103*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	244								p.Q244*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAAGAACCTGAGGTAATCTA	0.403000													36	185					0	0	0.819951	0	0
OR1N1	138883	broad.mit.edu	37	9	125289132	125289132	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:125289132C>A	ENST00000304880.2	-	1	440	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147C(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGAGGACCCAGCACAATG	0.537000													29	143					1.80694e-10	2.19957e-10	0.740014	1	0
F13A1	2162	broad.mit.edu	37	6	6224933	6224933	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:6224933C>A	ENST00000264870.3	-	7	1224	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	320					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G320V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTAAAGACACCAGCAAAAAC	0.418000													29	212					3.33393e-15	4.48832e-15	0.804634	1	0
GRID2	2895	broad.mit.edu	37	4	94436452	94436452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:94436452G>T	ENST00000282020.4	+	13	2341	c.2083G>T	c.(2083-2085)Gga>Tga	p.G695*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.G600*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	695					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G695*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCGCATGAAAGGACTGAATCC	0.488000													26	148					1.66031e-10	2.02581e-10	0.667858	1	0
COL24A1	255631	broad.mit.edu	37	1	86488678	86488678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:86488678G>A	ENST00000370571.2	-	15	2428	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P688S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	688	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent	p.P688S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTCCCACAGGGCCAACACTG	0.368000													8	74					0	0	0.387290	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	23					0	0	0.150653	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250954	142250954	+	RNA	SNP	G	G	T	rs361438		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:142250954G>T	ENST00000390360.3	-	0	113																											CTGCTGCCAGGATCTGAGATG	0.522000													43	195					6.1719e-39	1.00486e-38	0.870114	1	0
PTPRC	5788	broad.mit.edu	37	1	198668802	198668802	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:198668802C>T	ENST00000367376.2	+	5	573	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PTPRC_ENST00000352140.3_Silent_p.L134L|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Silent_p.L136L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	134					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L134L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGCAAAACTCAACCCTACCC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	284					0	0	0.847076	0	0
LOC645752	645752	broad.mit.edu	37	15	78213768	78213768	+	RNA	SNP	C	C	A	rs12904130	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:78213768C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGCGGCCAGCCAGATCCTTGG	0.542000													3	21					0.115264	0.118214	0.115264	1	0
TRIM69	140691	broad.mit.edu	37	15	45059966	45059966	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:45059966A>T	ENST00000558173.1	+	5	5632	c.887A>T	c.(886-888)cAg>cTg	p.Q296L	TRIM69_ENST00000561043.1_Missense_Mutation_p.Q263L|TRIM69_ENST00000559390.1_Missense_Mutation_p.Q500L|TRIM69_ENST00000329464.4_Missense_Mutation_p.Q500L|TRIM69_ENST00000560442.1_Missense_Mutation_p.Q296L|TRIM69_ENST00000558329.1_Missense_Mutation_p.Q279L|TRIM69_ENST00000338264.4_Missense_Mutation_p.Q341L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	500					apoptosis	nuclear speck	zinc ion binding	p.Q500L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTACATCCACAGTAATGAGTC	0.358000													61	200					0	0	0.870114	0	0
GPRASP2	114928	broad.mit.edu	37	X	101972152	101972152	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:101972152G>A	ENST00000543253.1	+	5	3274	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q	GPRASP2_ENST00000332262.5_Silent_p.Q785Q|GPRASP2_ENST00000535209.1_Silent_p.Q785Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.Q785Q(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGTTTCAGAATATCAGTA	0.303000													12	148					0	0	0.457914	0	0
ITGA11	22801	broad.mit.edu	37	15	68631901	68631901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:68631901G>A	ENST00000423218.2	-	11	1308	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P405S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCGCGGAGAGGAATGACCTTC	0.607000													9	54					0	0	0.411799	0	0
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:98146809G>T	ENST00000357947.3	-	14	1978	c.1753C>A	c.(1753-1755)Cac>Aac	p.H585N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592000													32	109					8.72198e-27	1.34841e-26	0.870114	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110396316	110396316	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110396316C>T	ENST00000378402.5	+	5	539	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	145					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T145T(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTTAGAACCCCAACAATAA	0.284000										HNSCC(38;0.096)			7	118					0	0	0.278610	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885024	50885024	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:50885024C>T	ENST00000404795.3	-	3	1334	c.942G>A	c.(940-942)cgG>cgA	p.R314R	DMRTA2_ENST00000418121.1_Silent_p.R314R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R314R(2)		endometrium(1)|lung(4)|pancreas(1)	6						CCAGCGGCGTCCGCTGCCGTG	0.697000													5	33					0	0	0.278610	0	0
KCNA6	3742	broad.mit.edu	37	12	4919483	4919483	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:4919483C>T	ENST00000433855.1	+	1	1142	c.276C>T	c.(274-276)agC>agT	p.S92S	KCNA6_ENST00000280684.3_Silent_p.S92S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	92						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S92S(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCGGCCCAGCTTCGACGCCA	0.637000										HNSCC(72;0.22)			10	95					0	0	0.361761	0	0
DHX32	55760	broad.mit.edu	37	10	127569217	127569217	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:127569217T>A	ENST00000284690.3	-	1	667	c.177A>T	c.(175-177)agA>agT	p.R59S	DHX32_ENST00000284688.6_Missense_Mutation_p.R59S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	59						mitochondrion|nucleus	ATP binding|helicase activity	p.R59S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAGATCTTCTCTTTCTTTCA	0.383000													15	94					0	0	0.520397	0	0
OR51D1	390038	broad.mit.edu	37	11	4661252	4661252	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:4661252A>G	ENST00000357605.2	+	1	308	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M78V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCCTGGCCATGCTTTCCAC	0.512000													49	264					0	0	0.870114	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197502	95197502	+	Silent	SNP	G	G	T	rs111425618		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:95197502G>T	ENST00000354268.4	+	15	1894	c.1821G>T	c.(1819-1821)gcG>gcT	p.A607A	SMARCAD1_ENST00000509418.1_Silent_p.A177A|SMARCAD1_ENST00000457823.2_Silent_p.A607A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	607	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.A607A(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATAACTGTGCGATCAGCAGTT	0.368000													14	82					4.7546e-09	5.62988e-09	0.500413	1	0
TPX2	22974	broad.mit.edu	37	20	30388777	30388777	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:30388777A>G	ENST00000340513.4	+	19	2774	c.2246A>G	c.(2245-2247)cAt>cGt	p.H749R	TPX2_ENST00000300403.6_Missense_Mutation_p.H713R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	713					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.H713R(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTGCAGGTGCATAAGGCAAAT	0.413000													247	578					0	0	0.870114	0	0
HERC2	8924	broad.mit.edu	37	15	28483346	28483346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:28483346C>A	ENST00000261609.7	-	25	3874	c.3766G>T	c.(3766-3768)Gac>Tac	p.D1256Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1256	Cytochrome b5 heme-binding.				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	p.D1256Y(2)		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)		ACCACTGGGTCTTCCCCTGCA	0.458000													24	146					3.6726e-16	5.04862e-16	0.667858	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43796717	43796717	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:43796717T>C	ENST00000291532.3	-	11	2082	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.Y373C|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.Y375C|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.Y460C|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	376	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	p.Y376C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GATGCCACCGTACACGTCCCT	0.647000													7	101					0	0	0.307466	0	0
ASIC4	55515	broad.mit.edu	37	2	220397143	220397143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:220397143G>T	ENST00000358078.4	+	4	1357	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.R448L			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	448						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.R448L(2)									TGCCGGCTGCGCTGTGAAAAG	0.672000													11	43					4.93089e-13	6.26584e-13	0.457914	1	0
SSX3	10214	broad.mit.edu	37	X	48209509	48209509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:48209509G>T	ENST00000298396.2	-	6	431	c.379C>A	c.(379-381)Cca>Aca	p.P127T	SSX3_ENST00000376893.3_Missense_Mutation_p.P127T|SSX3_ENST00000376895.1_Missense_Mutation_p.P39T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P127T(4)		endometrium(3)|large_intestine(1)|lung(9)	13						GATGCTTCTGGCACTTCCTTC	0.438000													87	241					2.07245e-51	3.44967e-51	0.870114	1	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													11	322					0	0	0.457914	0	0
CCDC147	159686	broad.mit.edu	37	10	106124511	106124511	+	Missense_Mutation	SNP	T	T	C	rs144185091	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:106124511T>C	ENST00000369704.3	+	4	595	c.461T>C	c.(460-462)tTc>tCc	p.F154S	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	154								p.F154S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTACTGAGGTTCAAAGAAGAA	0.438000													4	101					0	0	0.217242	0	0
BEST4	266675	broad.mit.edu	37	1	45253101	45253101	+	Nonsense_Mutation	SNP	G	G	A	rs138830699		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:45253101G>A	ENST00000372207.3	-	2	189	c.190C>T	c.(190-192)Cag>Tag	p.Q64*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	64						chloride channel complex|plasma membrane	chloride channel activity	p.Q64*(2)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGGGCCACCTGAGCATACACG	0.587000													44	284					0	0	0.870114	0	0
OR2M5	127059	broad.mit.edu	37	1	248308701	248308701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248308701C>A	ENST00000366476.1	+	1	252	c.252C>A	c.(250-252)aaC>aaA	p.N84K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N84K(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGGCCTTCAACTACTTGTCTG	0.493000													357	1042					1.54419e-88	2.60364e-88	0.870114	1	0
MRC2	9902	broad.mit.edu	37	17	60754829	60754829	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:60754829A>T	ENST00000303375.5	+	12	2436	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	678	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K678N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACACCAAACTCCGGTATT	0.662000													5	18					0	0	0.278610	0	0
LPL	4023	broad.mit.edu	37	8	19818481	19818481	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:19818481C>G	ENST00000311322.8	+	8	1679	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	403	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.L403L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GAGAACTACTCATGTTGAAGC	0.408000													59	275					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141130585	141130585	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:141130585C>A	ENST00000389484.3	-	69	11731	c.10760G>T	c.(10759-10761)tGt>tTt	p.C3587F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3587	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3587F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGGCTCACAGCTTTTCTC	0.363000										TSP Lung(27;0.18)			32	227					1.04594e-18	1.4728e-18	0.819951	1	0
MYH2	4620	broad.mit.edu	37	17	10426485	10426485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10426485C>A	ENST00000245503.5	-	39	5979	c.5595G>T	c.(5593-5595)aaG>aaT	p.K1865N	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1865N|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1865					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1865N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGAATATTCTTTCTATCTT	0.333000													12	65					3.27435e-08	3.78257e-08	0.457914	1	0
COL6A3	1293	broad.mit.edu	37	2	238289824	238289824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:238289824C>A	ENST00000295550.4	-	5	2083	c.1631G>T	c.(1630-1632)cGg>cTg	p.R544L	COL6A3_ENST00000392004.3_Missense_Mutation_p.R338L|COL6A3_ENST00000392003.2_Missense_Mutation_p.R137L|COL6A3_ENST00000353578.4_Missense_Mutation_p.R338L|COL6A3_ENST00000346358.4_Missense_Mutation_p.R544L|COL6A3_ENST00000347401.3_Missense_Mutation_p.R343L|COL6A3_ENST00000409809.1_Missense_Mutation_p.R338L|COL6A3_ENST00000472056.1_Missense_Mutation_p.R137L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	544	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R338L(2)|p.R544L(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGGCAGCCCGGTAGCCGGC	0.557000													40	159					3.54909e-21	5.19403e-21	0.859065	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249107242	249107242	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.I187I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652000													9	46					0	0	0.411799	0	0
IMMT	10989	broad.mit.edu	37	2	86371798	86371798	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:86371798C>T	ENST00000410111.3	-	15	2257	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	IMMT_ENST00000449247.2_Missense_Mutation_p.G613R|IMMT_ENST00000442664.2_Missense_Mutation_p.G623R|IMMT_ENST00000409051.2_Missense_Mutation_p.G577R|IMMT_ENST00000254636.5_Missense_Mutation_p.G525R	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	624						integral to mitochondrial inner membrane	protein binding	p.G624R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTACACCCCACGGGTCAGG	0.498000													33	239					0	0	0.827153	0	0
ADCY2	108	broad.mit.edu	37	5	7698359	7698359	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:7698359G>T	ENST00000338316.4	+	7	1070		c.e7-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTCTTCCAGGAGAATGAAT	0.388000													28	165					2.87994e-29	4.51943e-29	0.729181	1	0
UGDH	7358	broad.mit.edu	37	4	39511522	39511522	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:39511522T>C	ENST00000316423.6	-	6	1011	c.669A>G	c.(667-669)gcA>gcG	p.A223A	UGDH_ENST00000507089.1_Silent_p.A126A|UGDH_ENST00000506179.1_Silent_p.A223A|UGDH_ENST00000501493.2_Silent_p.A156A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	223	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.A223A(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAAAAGCATTTGCTGCCTTAA	0.363000													5	35					0	0	0.248553	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265006	32265006	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:32265006C>A	ENST00000398664.3	+	1	967	c.332C>A	c.(331-333)cCt>cAt	p.P111H	TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.P111H	NM_001243722.1	NP_001230651.1			TP53 target 3D									p.P111H(4)									GGTCGGTGGCCTCTCACTGCC	0.587000													13	137					4.7546e-09	5.62988e-09	0.500413	1	0
ANK2	287	broad.mit.edu	37	4	114279402	114279402	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:114279402A>G	ENST00000357077.4	+	38	9681	c.9628A>G	c.(9628-9630)Act>Gct	p.T3210A	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T3177A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3177					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3210A(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCAGCCTCCACTGAAACACC	0.483000													34	179					0	0	0.796494	0	0
NUFIP2	57532	broad.mit.edu	37	17	27614038	27614038	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:27614038G>A	ENST00000225388.4	-	2	1032	c.974C>T	c.(973-975)tCa>tTa	p.S325L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	325						nucleus|polysomal ribosome	protein binding|RNA binding	p.S325L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GGCAACAGCTGAAGCATGCTT	0.443000													19	122					0	0	0.557998	0	0
HYDIN	54768	broad.mit.edu	37	16	70841870	70841870	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:70841870G>T	ENST00000393567.2	-	86	15129	c.14979C>A	c.(14977-14979)ccC>ccA	p.P4993P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4993								p.P4992P(2)|p.P4944P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGCTGGGCTCGAATA	0.557000													25	182					1.38267e-23	2.08803e-23	0.693898	1	0
FAT4	79633	broad.mit.edu	37	4	126328260	126328260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:126328260G>T	ENST00000394329.3	+	3	5546	c.5533G>T	c.(5533-5535)Gtg>Ttg	p.V1845L	FAT4_ENST00000335110.5_Missense_Mutation_p.V143L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1845L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCAGACCCGTGTACTCTTT	0.408000													24	169					8.4185e-14	1.09378e-13	0.760397	1	0
SERPINB8	5271	broad.mit.edu	37	18	61654176	61654176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:61654176G>T	ENST00000397985.2	+	7	1045	c.789G>T	c.(787-789)aaG>aaT	p.K263N	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K263N|SERPINB8_ENST00000542677.1_Missense_Mutation_p.K81N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	263					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.K263N(2)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAAAAGTAAGGTTCAAGTTT	0.378000													27	143					5.60225e-13	7.10163e-13	0.740014	1	0
REG1P	5969	broad.mit.edu	37	2	79364397	79364397	+	RNA	SNP	G	G	A	rs3819317	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:79364397G>A	ENST00000444841.1	-	0	237																											TAGTAGCAGTGGGAGCCTTAG	0.542000													4	117					0	0	0.150653	0	0
DCT	1638	broad.mit.edu	37	13	95121061	95121061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:95121061G>T	ENST00000377028.5	-	2	947	c.534C>A	c.(532-534)aaC>aaA	p.N178K	DCT_ENST00000446125.1_Missense_Mutation_p.N178K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	178					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.N178K(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAACACTGCAGTTGGCAAACT	0.453000													40	213					1.22674e-20	1.77045e-20	0.840704	1	0
SLC8A1	6546	broad.mit.edu	37	2	40657385	40657385	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:40657385G>T	ENST00000406785.1	-	2	225	c.36C>A	c.(34-36)acC>acA	p.T12T	SLC8A1_ENST00000403092.1_Silent_p.T12T|SLC8A1_ENST00000408028.2_Silent_p.T12T|SLC8A1_ENST00000332839.4_Silent_p.T12T|SLC8A1_ENST00000542024.1_Silent_p.T12T|SLC8A1_ENST00000405901.3_Silent_p.T12T|SLC8A1_ENST00000405269.1_Silent_p.T12T|SLC8A1_ENST00000402441.1_Silent_p.T12T|SLC8A1_ENST00000406391.2_Silent_p.T12T|SLC8A1_ENST00000542756.1_Silent_p.T12T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T12T(3)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGAAAAGGTGGGTGAAA	0.408000													8	115					0.00448238	0.00469883	0.307466	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063015	48063015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:48063015G>A	ENST00000316364.5	+	19	2694	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	SEMA6D_ENST00000358066.4_Missense_Mutation_p.G690E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G752E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G709E|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G733E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G696E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G677E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G690E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	752					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.G690E(2)|p.G752E(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCACCCAATGGAGATACTAAA	0.483000													23	139					0	0	0.681144	0	0
LSP1	4046	broad.mit.edu	37	11	1905755	1905755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:1905755G>T	ENST00000406638.2	+	7	1777	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	LSP1_ENST00000311604.3_Missense_Mutation_p.D221Y|LSP1_ENST00000405957.2_Missense_Mutation_p.D159Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.D349Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	221					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.D159Y(2)|p.D221Y(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATCCCAGCCAGACTTGCCCAT	0.562000													9	92					4.36969e-10	5.28215e-10	0.435327	1	0
FAM163A	148753	broad.mit.edu	37	1	179782940	179782940	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:179782940C>A	ENST00000341785.4	+	5	516	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	40						integral to membrane		p.T40T(2)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGAGCGGAACCGAGGTTGCAG	0.627000													8	60					2.17888e-05	2.37986e-05	0.335167	1	0
SERPINA6	866	broad.mit.edu	37	14	94776131	94776131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:94776131C>A	ENST00000341584.3	-	3	972	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	276					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGCGATGACTGTGTTCATC	0.557000													29	130					1.55811e-20	2.2363e-20	0.729181	1	0
MYH6	4624	broad.mit.edu	37	14	23853903	23853903	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:23853903C>T	ENST00000405093.3	-	36	5383	c.5313G>A	c.(5311-5313)ctG>ctA	p.L1771L	MYH6_ENST00000356287.3_Silent_p.L1771L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1771					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1771L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCCTTCTTCAGCTCCTCTG	0.622000													8	78					0	0	0.479597	0	0
C1orf173	127254	broad.mit.edu	37	1	75055428	75055428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:75055428G>T	ENST00000326665.5	-	12	2281	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S491Y	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	688	Glu-rich.							p.S688Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGTTTCCCGGACTTCTCAGA	0.458000													36	165					9.17885e-22	1.35857e-21	0.779181	1	0
MUC16	94025	broad.mit.edu	37	19	9075971	9075971	+	Silent	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9075971T>G	ENST00000397910.4	-	3	11678	c.11475A>C	c.(11473-11475)ccA>ccC	p.P3825P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3826	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3825P(4)		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						GCACCTGCCCTGGATGTGCAG	0.507000													109	717					0	0	0.870114	0	0
DPP6	1804	broad.mit.edu	37	7	154684104	154684104	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:154684104T>A	ENST00000404039.1	+	26	2907	c.2320T>A	c.(2320-2322)Tcc>Acc	p.S774T	DPP6_ENST00000332007.3_Missense_Mutation_p.S776T|DPP6_ENST00000377770.3_Missense_Mutation_p.S838T|DPP6_ENST00000427557.1_Missense_Mutation_p.S731T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	838					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S838T(2)|p.S774T(2)|p.S776T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTACCGGTCCATCATCAA	0.507000													23	150					0	0	0.706142	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110477365G>T	ENST00000378402.5	+	49	8408	c.8304G>T	c.(8302-8304)ggG>ggT	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			37	266					7.93934e-33	1.27667e-32	0.819951	1	0
OBSCN	84033	broad.mit.edu	37	1	228511036	228511036	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:228511036G>T	ENST00000570156.2	+	67	18326	c.18252G>T	c.(18250-18252)gtG>gtT	p.V6084V	OBSCN_ENST00000422127.1_Silent_p.V5127V|OBSCN_ENST00000284548.11_Silent_p.V5127V|OBSCN_ENST00000366707.4_Silent_p.V2761V|OBSCN_ENST00000366709.4_Silent_p.V2246V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5127	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.V5709V(2)|p.V5839V(2)|p.V5127V(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCCCAGTGTTCCTGACTG	0.542000													6	10					0.00116845	0.00123481	0.217242	1	0
MMP16	4325	broad.mit.edu	37	8	89131071	89131071	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:89131071T>A	ENST00000286614.6	-	5	1010	c.729A>T	c.(727-729)gtA>gtT	p.V243V	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	243					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.V243V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATGGACTGCTACAAGAAATA	0.378000													20	131					0	0	0.624587	0	0
CHRM3	1131	broad.mit.edu	37	1	240072344	240072344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:240072344G>T	ENST00000255380.4	+	5	2372	c.1593G>T	c.(1591-1593)tgG>tgT	p.W531C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGGCTACTGGCTGTGCTACA	0.483000													50	138					3.40343e-31	5.40605e-31	0.870114	1	0
GPC6	10082	broad.mit.edu	37	13	94482465	94482465	+	Silent	SNP	G	G	T	rs149069159		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:94482465G>T	ENST00000377047.4	+	3	993	c.378G>T	c.(376-378)cgG>cgT	p.R126R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R126R(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTTTGTACGGACCTATGGCA	0.398000													12	64					3.03607e-14	3.99443e-14	0.411799	1	0
DHRSX	207063	broad.mit.edu	37	X	2209645	2209645	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:2209645C>A	ENST00000334651.5	-	4	339		c.e4-1			NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked								binding|oxidoreductase activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAAAATTCCACTGGAAAAGGA	0.378000													20	102					1.28384e-07	1.46363e-07	0.608945	1	0
ESD	2098	broad.mit.edu	37	13	47354087	47354087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:47354087C>A	ENST00000378720.3	-	8	765	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	ESD_ENST00000378697.1_Missense_Mutation_p.D166Y	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	195						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	p.D195Y(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTACTTTGATCTGTTCCCAAA	0.373000													18	129					1.96292e-10	2.38388e-10	0.592651	1	0
SPTA1	6708	broad.mit.edu	37	1	158583603	158583603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158583603G>T	ENST00000368148.3	-	50	7077	c.6897C>A	c.(6895-6897)tgC>tgA	p.C2299*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.C2296*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2299	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.C2299*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCTCTCAGGCAGGACCGGA	0.438000													24	142					1.17739e-12	1.47813e-12	0.693898	1	0
SPOCK3	50859	broad.mit.edu	37	4	167713350	167713350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:167713350G>T	ENST00000357154.3	-	8	826	c.689C>A	c.(688-690)aCa>aAa	p.T230K	SPOCK3_ENST00000511531.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T110K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T134K|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T179K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T227K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T230K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.T227K(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAATGTTTTTGTCTTCTTGTT	0.403000													17	82					9.62636e-23	1.44534e-22	0.624587	1	0
TAF1L	138474	broad.mit.edu	37	9	32632534	32632534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:32632534C>T	ENST00000242310.4	-	1	3133	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1015					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1015H(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAGGCGACGAAGGTCTGC	0.448000													119	580					0	0	0.870114	0	0
CNTN3	5067	broad.mit.edu	37	3	74315674	74315674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:74315674C>G	ENST00000263665.6	-	21	2971	c.2944G>C	c.(2944-2946)Gat>Cat	p.D982H	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	982	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D982H(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTCCCATCCCCTCCATCT	0.408000													59	425					0	0	0.870114	0	0
XIRP2	129446	broad.mit.edu	37	2	168102029	168102029	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:168102029A>T	ENST00000409195.1	+	9	4216	c.4127A>T	c.(4126-4128)cAa>cTa	p.Q1376L	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1154L|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1376L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1201					actin cytoskeleton organization	cell junction	actin binding	p.Q1376L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGTCACACAAGAAGACATT	0.363000													23	177					0	0	0.639603	0	0
USH2A	7399	broad.mit.edu	37	1	216372980	216372980	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216372980G>A	ENST00000366943.2	-	17	4186	c.3800C>T	c.(3799-3801)gCg>gTg	p.A1267V	USH2A_ENST00000366942.3_Missense_Mutation_p.A1267V|USH2A_ENST00000307340.3_Missense_Mutation_p.A1267V|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1267	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1267V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTAGTTCCGCTGGTGGAGA	0.428000										HNSCC(13;0.011)			17	189					0	0	0.608945	0	0
MUC16	94025	broad.mit.edu	37	19	9057909	9057909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9057909G>C	ENST00000397910.4	-	3	29740	c.29537C>G	c.(29536-29538)aCc>aGc	p.T9846S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T9846S(2)|p.T5479S(2)		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						CACAGCGGAGGTGATACCCAT	0.483000													36	244					0	0	0.870114	0	0
LCE3E	353145	broad.mit.edu	37	1	152538599	152538599	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:152538599C>A	ENST00000368789.1	-	2	141	c.86G>T	c.(85-87)tGt>tTt	p.C29F		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	29					keratinization			p.C29F(2)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGAGGCAGACACTGTACTGG	0.632000													36	101					2.95478e-19	4.19466e-19	0.840704	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110439382	110439382	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110439382A>G	ENST00000378402.5	+	25	3101	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	999					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1001L(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAATCTTCTACAGGTTCCCT	0.458000										HNSCC(38;0.096)			8	39					0	0	0.307466	0	0
PTK2	5747	broad.mit.edu	37	8	141712746	141712746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:141712746G>A	ENST00000522684.1	-	25	2519	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q764*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q764*|PTK2_ENST00000538769.1_Nonsense_Mutation_p.Q432*|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q764*|PTK2_ENST00000430260.2_Nonsense_Mutation_p.Q74*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000519465.1_Nonsense_Mutation_p.Q392*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	764	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.Q716*(2)|p.Q786*(2)|p.Q764*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGAGATGCCTGACCTGGATAG	0.478000													15	164					0	0	0.479597	0	0
FGF5	2250	broad.mit.edu	37	4	81207742	81207742	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:81207742C>G	ENST00000312465.7	+	3	949	c.723C>G	c.(721-723)agC>agG	p.S241R	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	241					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.S241R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCCACCTAGCCCTATCAAGC	0.443000													30	188					0	0	0.769981	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605176	142605176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:142605176C>G	ENST00000370503.2	-	1	127	c.44G>C	c.(43-45)aGc>aCc	p.S15T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	15								p.S15T(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCACAGGGGCTCTTCGTCTT	0.468000													92	178					0	0	0.870114	0	0
HBD	3045	broad.mit.edu	37	11	5254211	5254211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:5254211C>A	ENST00000380299.3	-	3	641	c.427G>T	c.(427-429)Gct>Tct	p.A143S	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	143			A -> D (in Fitzroy).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A143S(2)|p.A143P(1)		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)		TACTTGTGAGCCAGGGCATTA	0.493000													44	325					2.69441e-44	4.42835e-44	0.870114	1	0
ITGAD	3681	broad.mit.edu	37	16	31429491	31429491	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31429491C>A	ENST00000389202.2	+	21	2644	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	865					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P865P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAACCACCCCATCTTCCATG	0.572000													11	94					9.31168e-06	1.03884e-05	0.435327	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139092	126139092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:126139092A>T	ENST00000299308.3	+	9	3081	c.3073A>T	c.(3073-3075)Aag>Tag	p.K1025*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.K537*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1025						integral to membrane		p.K1025*(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAGAGAGTCAAGTTCACTTC	0.458000													33	96					0	0	0.859065	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441505	44441505	+	Silent	SNP	G	G	T	rs148642401		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:44441505G>T	ENST00000291547.5	+	8	1024	c.813G>T	c.(811-813)acG>acT	p.T271T	PKNOX1_ENST00000432907.2_Silent_p.T154T	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	271							sequence-specific DNA binding	p.T271T(2)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGCATGCCACGAACGTGATGC	0.527000													7	56					7.48243e-07	8.47466e-07	0.335167	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			18	67					4.72057e-08	5.41722e-08	0.667858	1	0
BPIFB6	128859	broad.mit.edu	37	20	31619551	31619551	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:31619551G>T	ENST00000349552.1	+	1	97		c.e1+1			NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6							extracellular region	lipid binding	p.?(2)									ATCATGAACCGTGGTGAGCTT	0.642000													8	39					0.0477658	0.0494751	0.307466	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267765	103267765	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:103267765G>A	ENST00000217926.5	-	1	494	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	156					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.S156S(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCGTGCCTTCGGACTCGGCGA	0.662000													20	43					0	0	0.624587	0	0
SYNE3	161176	broad.mit.edu	37	14	95910860	95910860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:95910860C>A	ENST00000334258.5	-	9	1752	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	SYNE3_ENST00000554873.1_Missense_Mutation_p.D337Y|SYNE3_ENST00000557275.1_Missense_Mutation_p.D580Y|SYNE3_ENST00000553340.1_Missense_Mutation_p.D580Y	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.D580Y(6)		breast(1)|endometrium(2)|lung(25)	28						CCAGGAAGGTCCCGCTGAAGC	0.602000													6	37					0.0581538	0.0601153	0.335167	1	0
USH2A	7399	broad.mit.edu	37	1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216251649G>C	ENST00000366943.2	-	27	5740	c.5354C>G	c.(5353-5355)aCa>aGa	p.T1785R	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1785R|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1785	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353000										HNSCC(13;0.011)			108	768					0	0	0.870114	0	0
ABCG1	9619	broad.mit.edu	37	21	43706025	43706025	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:43706025G>T	ENST00000398437.1	+	9	1480	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	ABCG1_ENST00000398457.2_Silent_p.R300R|ABCG1_ENST00000398449.3_Silent_p.R298R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.R406R|ABCG1_ENST00000347800.2_Silent_p.R295R|ABCG1_ENST00000343687.3_Silent_p.R309R|ABCG1_ENST00000361802.2_Silent_p.R298R			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	298	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R298R(2)|p.R300R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTGTACCGGGGAAAAGTCT	0.517000													73	456					1.17954e-47	1.94474e-47	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	114111142	114111142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:114111142T>A	ENST00000297405.5	-	5	1004	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S254C|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.S214C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S254C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	254	CUB 2.					integral to membrane|plasma membrane		p.S214C(2)|p.S254C(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACTAGGGCTGGATATGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	172					0	0	0.706142	0	0
CASP4	837	broad.mit.edu	37	11	104819384	104819384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:104819384C>A	ENST00000444739.2	-	6	1711	c.801G>T	c.(799-801)tgG>tgT	p.W267C	CASP4_ENST00000393150.3_Missense_Mutation_p.W211C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	267					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.W267C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGTCTCTGACCCACAGTTCCC	0.498000													46	266					5.39261e-20	7.71855e-20	0.870114	1	0
USPL1	10208	broad.mit.edu	37	13	31205085	31205085	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:31205085G>T	ENST00000255304.4	+	4	684	c.342G>T	c.(340-342)aaG>aaT	p.K114N	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	114					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K114N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCAGCTATAAGGATTCACTTC	0.353000													23	134					2.50493e-22	3.7502e-22	0.681144	1	0
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:168106863G>A	ENST00000409195.1	+	9	9050	c.8961G>A	c.(8959-8961)ctG>ctA	p.L2987L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343000													21	175					0	0	0.002299	0	0
AFF2	2334	broad.mit.edu	37	X	147744265	147744265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:147744265G>T	ENST00000370460.2	+	3	1496	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	AFF2_ENST00000342251.3_Missense_Mutation_p.K335N|AFF2_ENST00000370458.1_Missense_Mutation_p.K335N|AFF2_ENST00000370457.5_Missense_Mutation_p.K335N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	339					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.K339N(4)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGCCAAAGTTCACCATCC	0.363000													14	49					2.23348e-06	2.84781e-06	0.004007	1	0
MUC5AC	4586	broad.mit.edu	37	11	1157860	1157860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:1157860C>A	ENST00000356191.2	+	13	918	c.918C>A	c.(916-918)caC>caA	p.H306Q						mucin 5AC, oligomeric mucus/gel-forming									p.H309Q(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCGTCTGCCACACCCTTGCCG	0.672000													11	90					9.31168e-06	1.16738e-05	0.001855	1	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:120008510C>A	ENST00000341846.5	-	1	651	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000													52	181					4.60868e-44	8.72149e-44	0.003610	1	0
VWA7	80737	broad.mit.edu	37	6	31740879	31740879	+	Silent	SNP	G	G	A	rs146780305	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:31740879G>A	ENST00000375686.3	-	7	1176	c.939C>T	c.(937-939)gcC>gcT	p.A313A	VWA7_ENST00000375688.4_Silent_p.A313A|VWA7_ENST00000447450.1_Silent_p.A313A|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	313						extracellular region		p.A313A(2)									TCAGGCTGGAGGCTGGGGTGA	0.632000													8	34					0	0	0.004482	0	0
OR4M2	390538	broad.mit.edu	37	15	22368980	22368980	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:22368980C>A	ENST00000332663.2	+	1	503	c.405C>A	c.(403-405)atC>atA	p.I135I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCTACCATCATGAATCAAC	0.502000													40	645					1.62957e-23	2.96196e-23	0.008740	1	0
ST3GAL4	6484	broad.mit.edu	37	11	126277168	126277168	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:126277168C>G	ENST00000526727.1	+	4	578	c.204C>G	c.(202-204)atC>atG	p.I68M	ST3GAL4_ENST00000534457.1_Missense_Mutation_p.I63M|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.I68M|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.I64M|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.I67M|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.I57M|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.I68M|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.I64M|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.I68M|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.I74M			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	68					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ATCAGCCCATCTTCCTGCGGC	0.547000													7	325					0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57327996	57327996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:57327996C>A	ENST00000326441.9	-	10	2177	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G605V|PEG3_ENST00000598410.1_Missense_Mutation_p.G481V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G479V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGTTTCCCCGCGCtcacg	0.453000													13	37					0.00010058	0.000122002	0.001368	1	0
CSDE1	7812	broad.mit.edu	37	1	115267878	115267878	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:115267878T>C	ENST00000438362.2	-	15	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	CSDE1_ENST00000339438.6_Missense_Mutation_p.K542E|CSDE1_ENST00000530886.1_Missense_Mutation_p.K443E|CSDE1_ENST00000358528.4_Missense_Mutation_p.K573E|CSDE1_ENST00000534699.1_Missense_Mutation_p.K573E|CSDE1_ENST00000369530.1_Missense_Mutation_p.K588E|CSDE1_ENST00000261443.5_Missense_Mutation_p.K542E	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	573	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.K573E(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GCACTGACTTTGTTGCCTTTG	0.413000													11	198					0	0	0.001368	0	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:93015490G>T	ENST00000333334.2	+	1	607	c.112G>T	c.(112-114)Gga>Tga	p.G38*	C15orf32_ENST00000556865.1_Nonsense_Mutation_p.G38*	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38								p.G38*(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAAC	0.542000													22	156					9.22233e-05	0.00011255	0.004656	1	0
MMD	23531	broad.mit.edu	37	17	53491543	53491543	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:53491543T>C	ENST00000262065.3	-	2	373	c.77A>G	c.(76-78)tAt>tGt	p.Y26C		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	26					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	p.Y26C(2)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGCATGTTCATAGCAAGTTGG	0.453000													7	122					0	0	0.003080	0	0
GLI1	2735	broad.mit.edu	37	12	57864243	57864243	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:57864243G>A	ENST00000228682.2	+	12	1811	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	GLI1_ENST00000546141.1_Missense_Mutation_p.G533R|GLI1_ENST00000543426.1_Missense_Mutation_p.G446R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	574					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.G574R(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCAGAGAATGGAGCATCCTC	0.632000													41	120					0	0	0.007835	0	0
MMRN1	22915	broad.mit.edu	37	4	90857222	90857222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:90857222C>G	ENST00000394980.1	+	7	2710	c.2391C>G	c.(2389-2391)aaC>aaG	p.N797K	MMRN1_ENST00000508372.1_Missense_Mutation_p.N539K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.N797K			Q13201	MMRN1_HUMAN	multimerin 1	797					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.N797K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAGATATAACTTTGTTTTGC	0.373000													12	94					0	0	0.000978	0	0
SALL2	6297	broad.mit.edu	37	14	21992890	21992890	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:21992890G>A	ENST00000327430.3	-	2	1266	c.972C>T	c.(970-972)acC>acT	p.T324T	SALL2_ENST00000450879.2_Silent_p.T187T|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	324							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T324T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTAGTCCCGTGGTGCTTGGGA	0.627000													19	61					0	0	0.001523	0	0
MYH13	8735	broad.mit.edu	37	17	10204269	10204269	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10204269C>T	ENST00000418404.3	-	40	5979	c.5816G>A	c.(5815-5817)tGa>tAa	p.*1939*	MYH13_ENST00000252172.4_Silent_p.*1939*|MYH13_ENST00000570743.1_Silent_p.*1939*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	0					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.*1939*(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTGAGCCTCATTCTTCCAT	0.438000													13	134					0	0	0.004990	0	0
NPHS2	7827	broad.mit.edu	37	1	179520370	179520370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:179520370G>T	ENST00000367615.4	-	8	1158	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P296T|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding	p.P364T(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGGACTTGGGAAGGGGAGG	0.488000													22	139					4.59853e-10	6.72352e-10	0.005443	1	0
FAM129C	199786	broad.mit.edu	37	19	17664237	17664237	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:17664237T>C	ENST00000335393.4	+	16	2097	c.1959T>C	c.(1957-1959)tcT>tcC	p.S653S	FAM129C_ENST00000601861.1_Silent_p.S622S|FAM129C_ENST00000449408.2_Silent_p.S379S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	653								p.S653S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTCTGCTGTCTTGCAGCTGCT	0.527000													24	162					0	0	0.002299	0	0
USH2A	7399	broad.mit.edu	37	1	216062334	216062334	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216062334A>T	ENST00000366943.2	-	41	8043	c.7657T>A	c.(7657-7659)Tgg>Agg	p.W2553R	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W2553R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2553	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W2553R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGCTGCCAGGTGACCAAC	0.408000										HNSCC(13;0.011)			25	175					0	0	0.003954	0	0
FAM194A	131831	broad.mit.edu	37	3	150377865	150377865	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:150377865C>G	ENST00000295910.6	-	14	1858	c.1806G>C	c.(1804-1806)aaG>aaC	p.K602N	FAM194A_ENST00000491361.1_Missense_Mutation_p.K456N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	602								p.K602N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGACGGATCTTTATTAAAC	0.423000													60	210					0	0	0.003610	0	0
ANKRD26	22852	broad.mit.edu	37	10	27355419	27355419	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:27355419A>G	ENST00000376087.4	-	11	1431	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S	ANKRD26_ENST00000436985.2_Silent_p.S471S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	422						centrosome		p.S422S(2)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAAGTACCTCAGAATCCCAAG	0.318000													20	72					0	0	0.001882	0	0
C19orf40	91442	broad.mit.edu	37	19	33464996	33464996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:33464996G>C	ENST00000588258.1	+	4	384	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	C19orf40_ENST00000590281.1_Missense_Mutation_p.E92Q|C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	92					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	p.E92Q(2)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418000								Direct reversal of damage					12	79					0	0	0.001368	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667826	60667826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:60667826C>A	ENST00000400324.4	-	4	651	c.431G>T	c.(430-432)cGg>cTg	p.R144L	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R74L|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R144L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R133L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R144L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCCTTTTCCCGCAATGGTGC	0.333000													6	73					8.12818e-05	9.93999e-05	0.001984	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777518	43777518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:43777518C>T	ENST00000389420.3	-	31	4639	c.4640G>A	c.(4639-4641)tGt>tAt	p.C1547Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1547	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.C1547Y(2)|p.R1547K(2)		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)		TTTTCTCTCACATGATGTTGA	0.348000													30	109					0	0	0.001786	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219383918	219383918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:219383918A>T	ENST00000366928.5	+	4	453	c.406A>T	c.(406-408)Aga>Tga	p.R136*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.R120*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	136						cytoplasm	lysophospholipase activity	p.R136*(2)		large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTTAGCATATAGAAATCATCA	0.303000													16	91					0	0	0.003330	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703256	156703256	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:156703256C>T	ENST00000368216.4	+	5	1210	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	RRNAD1_ENST00000368218.4_Missense_Mutation_p.R194C|RRNAD1_ENST00000476229.1_Missense_Mutation_p.R71C	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	194						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GAGAGCCCAGCGCCTGGACCA	0.617000													7	284					0	0	0.003080	0	0
C12orf36	283422	broad.mit.edu	37	12	13529158	13529158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:13529158C>A	ENST00000532841.1	-	2	305	c.182G>T	c.(181-183)aGg>aTg	p.R61M	C12orf36_ENST00000539026.1_Splice_Site_p.R61_splice|C12orf36_ENST00000527705.2_Splice_Site_p.S61_splice|C12orf36_ENST00000318426.2_Splice_Site_p.S61_splice					chromosome 12 open reading frame 36									p.S61I(2)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcccactcacctccacagcct	0.488000													10	184					0.00621372	0.00721515	0.006214	1	0
LRRC15	131578	broad.mit.edu	37	3	194081543	194081543	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:194081543G>A	ENST00000347624.3	-	2	315	c.230C>T	c.(229-231)tCa>tTa	p.S77L	LRRC15_ENST00000439944.2_Missense_Mutation_p.S83L|LRRC15_ENST00000428839.1_Missense_Mutation_p.S83L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	77						integral to membrane		p.S77L(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GATGAGGGCTGAGATATTGAG	0.587000													35	108					0	0	0.003755	0	0
ASAP1	50807	broad.mit.edu	37	8	131181264	131181264	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:131181264C>G	ENST00000357668.1	-	9	823	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.E266Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	266					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGTTTTTCAATGTACTGT	0.274000													4	116					0	0	0.000248	0	0
OR6F1	343169	broad.mit.edu	37	1	247875336	247875336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:247875336C>A	ENST00000302084.2	-	1	769	c.722G>T	c.(721-723)tGc>tTc	p.C241F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGCGAGGAGCACGTGGAGAA	0.527000													45	214					9.85913e-13	1.5274e-12	0.002222	1	0
PEX12	5193	broad.mit.edu	37	17	33904575	33904575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:33904575G>T	ENST00000225873.4	-	2	769	c.162C>A	c.(160-162)ttC>ttA	p.F54L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	54					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.F54L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCCACAAGAAGCCATAGT	0.373000													43	210					9.39024e-22	1.67623e-21	0.002222	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863748	64863748	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:64863748G>A	ENST00000313349.3	-	2	555	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	86					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.F86F(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGAGGGGGTGAACATGGGCC	0.632000													9	74					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179584084	179584084	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:179584084T>C	ENST00000589042.1	-	83	24257	c.24033A>G	c.(24031-24033)tcA>tcG	p.S8011S	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S6767S|TTN_ENST00000591111.1_Silent_p.S7694S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7694	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6767S(2)		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)			AAATCGGGGCTGAGCCAGAGA	0.498000													26	238					0	0	0.006320	0	0
BAI3	577	broad.mit.edu	37	6	69349249	69349249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:69349249G>T	ENST00000370598.1	+	3	1503	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	228					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G228C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGACAGAGGGCTGCCTGAC	0.537000													9	66					1.12685e-05	1.40974e-05	0.004482	1	0
HCST	10870	broad.mit.edu	37	19	36393498	36393498	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:36393498G>T	ENST00000246551.4	+	1	117	c.3G>T	c.(1-3)atG>atT	p.M1I	HCST_ENST00000437550.2_Start_Codon_SNP_p.M1I			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	1					regulation of immune response	integral to membrane|plasma membrane		p.M1I(2)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTCCACCATGATCCATCTGG	0.567000													76	612					2.22156e-40	4.19082e-40	0.003610	1	0
GDF5	8200	broad.mit.edu	37	20	34021748	34021748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:34021748G>T	ENST00000374372.1	-	4	1968	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K	GDF5_ENST00000374369.3_Missense_Mutation_p.Q489K|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	489					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.Q489K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCTCATACTGCTTATACACC	0.592000													18	115					6.94344e-10	1.00053e-09	0.006122	1	0
OR2T6	254879	broad.mit.edu	37	1	248551725	248551725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248551725G>T	ENST00000355728.2	+	1	816	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAAAGATAAGGTCTTCTCTG	0.473000													13	130					0.00010058	0.000122002	0.001368	1	0
TMEM47	83604	broad.mit.edu	37	X	34648523	34648523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:34648523C>A	ENST00000275954.3	-	3	711	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	151						integral to membrane		p.W151C(4)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCCATAACCCCAGTTGAACT	0.423000													12	70					3.07112e-06	3.89095e-06	0.000978	1	0
DSC3	1825	broad.mit.edu	37	18	28604459	28604459	+	Splice_Site	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:28604459A>G	ENST00000434452.1	-	6	785	c.630_splice	c.e6-1	p.L211_splice	DSC3_ENST00000360428.4_Splice_Site_p.L211_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	211	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L211L(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAGCAATCAACTGCAAAATA	0.408000													6	76					0	0	0.001984	0	0
NID2	22795	broad.mit.edu	37	14	52507529	52507529	+	Silent	SNP	C	C	G	rs146481572		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:52507529C>G	ENST00000216286.5	-	8	1865	c.1866G>C	c.(1864-1866)ccG>ccC	p.P622P	NID2_ENST00000541773.1_Silent_p.P569P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	622	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.P622P(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTCCTCTCCCGGGTAGAATG	0.478000													57	146					0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21713354	21713354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:21713354T>A	ENST00000261195.2	-	8	1389	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	379					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.T379S(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTTCAGGGTTTCCACGTTG	0.378000													29	273					0	0	0.002445	0	0
IL9R	3581	broad.mit.edu	37	X	155234092	155234092	+	Silent	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:155234092G>C	ENST00000424344.3	+	6	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L	IL9R_ENST00000540897.1_Intron|IL9R_ENST00000244174.5_Silent_p.L147L|IL9R_ENST00000369423.2_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor	147					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTTAAGCTGGACCCGCCCT	0.547000													6	88					0	0	0.001984	0	0
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248737350C>G	ENST00000328782.2	-	1	730	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562000													27	257					0	0	0.001786	0	0
RUFY2	55680	broad.mit.edu	37	10	70156631	70156631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:70156631G>T	ENST00000388768.2	-	4	735	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Missense_Mutation_p.L102M|RUFY2_ENST00000602465.1_Missense_Mutation_p.L102M|RUFY2_ENST00000454950.2_Missense_Mutation_p.L44M	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	151	RUN.					nucleus	metal ion binding	p.L137M(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCTCGACCCAGAGGGGTCCTA	0.433000													8	74					5.18039e-06	6.50814e-06	0.003080	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921566	178921566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:178921566G>A	ENST00000263967.3	+	5	1205	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	350					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D350N(4)|p.D350H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAATATTCGAGACATTGATAA	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	153					0	0	0.006122	0	0
GALNT7	51809	broad.mit.edu	37	4	174219404	174219404	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:174219404C>T	ENST00000265000.4	+	6	1187	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	368					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T368T(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGCCTCTGACCCCTCAAGAGA	0.443000													9	48					0	0	0.004482	0	0
CSNK1D	1453	broad.mit.edu	37	17	80223565	80223565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:80223565C>T	ENST00000314028.6	-	2	533	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CSNK1D_ENST00000398519.5_Missense_Mutation_p.G62R|CSNK1D_ENST00000392334.2_Missense_Mutation_p.G62R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	62	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G62R(6)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GACCTACCTCCTCCCTGCATC	0.458000													14	182					0	0	0.002450	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213681	1213681	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:1213681C>A	ENST00000304460.10	+	5	823	c.767C>A	c.(766-768)aCg>aAg	p.T256K		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	256					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T256K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCTCTTCACGCCCAACGTA	0.652000													12	39					3.27435e-08	4.44005e-08	0.002450	1	0
PLA2G6	8398	broad.mit.edu	37	22	38508177	38508177	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:38508177G>A	ENST00000332509.3	-	17	2595	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	PLA2G6_ENST00000335539.3_Silent_p.L750L|PLA2G6_ENST00000402064.1_Silent_p.L750L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	804					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		p.L804L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTCAGGGTGAGAGCAGCAGCT	0.637000													3	11					0	0	0.004672	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090685	238090685	+	RNA	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:238090685G>C	ENST00000450451.1	+	0	2191					NR_027247.2																						GGCTGGCAGGGACCTGACAGG	0.622000													4	22					0	0	0.000602	0	0
PKHD1	5314	broad.mit.edu	37	6	51768419	51768419	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:51768419G>C	ENST00000371117.3	-	43	7247	c.6972C>G	c.(6970-6972)atC>atG	p.I2324M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I2324M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2324					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I2324M(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGACTGCAGATATAGATGC	0.453000													29	176					0	0	0.007291	0	0
GPC6	10082	broad.mit.edu	37	13	94482465	94482465	+	Silent	SNP	G	G	T	rs149069159		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:94482465G>T	ENST00000377047.4	+	3	993	c.378G>T	c.(376-378)cgG>cgT	p.R126R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R126R(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTTTGTACGGACCTATGGCA	0.398000													11	91					0.000673444	0.000800635	0.008291	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111896616	111896616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:111896616G>T	ENST00000375741.2	+	9	1238	c.988G>T	c.(988-990)Gta>Tta	p.V330L	ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V74L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V227L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V280L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V152L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V152L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V237L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V152L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V309L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V152L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	330	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.V309L(2)|p.V152L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAATGCTCGTACAGTCTTT	0.313000													9	68					0.00448238	0.00522508	0.004482	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952637	119952637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:119952637C>T	ENST00000307142.4	+	4	2903	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P903S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P903S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	903						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.P903S(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTCAGTCTCCCACTCCATC	0.567000													10	118					0	0	0.006214	0	0
C1orf105	92346	broad.mit.edu	37	1	172437600	172437600	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:172437600T>A	ENST00000367727.4	+	7	616	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	C1orf105_ENST00000367725.4_Missense_Mutation_p.Y130N|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	140								p.Y140N(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AAGCATTCACTACAGACTGCC	0.443000													41	383					0	0	0.002222	0	0
C1orf105	92346	broad.mit.edu	37	1	172437623	172437623	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:172437623C>A	ENST00000367727.4	+	7	639	c.441C>A	c.(439-441)ccC>ccA	p.P147P	C1orf105_ENST00000367725.4_Silent_p.P137P|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	147								p.P147P(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTCTGGGCCCCAGGACAGCTG	0.443000													52	437					2.31418e-15	3.84411e-15	0.003610	1	0
SLAIN2	57606	broad.mit.edu	37	4	48381849	48381849	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:48381849C>G	ENST00000264313.6	+	4	1264	c.846C>G	c.(844-846)gcC>gcG	p.A282A	SLAIN2_ENST00000512093.1_Silent_p.A89A	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	282						centrosome		p.A282A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGATTCTAGCCCGGATGCAGG	0.308000													24	181					0	0	0.005443	0	0
MGAM	8972	broad.mit.edu	37	7	141708386	141708386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:141708386G>A	ENST00000475668.2	+	3	262	c.208G>A	c.(208-210)Gct>Act	p.A70T	MGAM_ENST00000549489.2_Missense_Mutation_p.A70T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	70	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A70T(8)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCACACATGCTAGGACAAC	0.498000													7	51					0	0	0.003080	0	0
ZNF479	90827	broad.mit.edu	37	7	57188289	57188289	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:57188289A>T	ENST00000331162.4	-	5	1103	c.833T>A	c.(832-834)tTt>tAt	p.F278Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F278Y(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGAGCGCCTAAAGGCTTGGCC	0.458000													15	76					0	0	0.004007	0	0
NFATC2	4773	broad.mit.edu	37	20	50139740	50139740	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:50139740G>A	ENST00000371564.3	-	2	1259	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	NFATC2_ENST00000396009.3_Missense_Mutation_p.P347L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P327L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	347					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCCACGGCCGGGTAGATGTG	0.677000													4	202					0	0	0.000248	0	0
REST	5978	broad.mit.edu	37	4	57796165	57796165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:57796165G>C	ENST00000309042.7	+	4	1455	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	381					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.E381Q(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAACATGTAGAGCTACATGT	0.428000													47	256					0	0	0.003610	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952305	95952305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:95952305G>C	ENST00000342697.4	-	3	663	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Missense_Mutation_p.Q86E|TP53INP1_ENST00000448464.2_Missense_Mutation_p.Q86E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	86					apoptosis	PML body		p.Q86E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GACTCAAACTGGAGAAAGCAG	0.473000													9	89					0	0	0.006214	0	0
GRM7	2917	broad.mit.edu	37	3	7348280	7348280	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:7348280A>G	ENST00000486284.1	+	4	1248	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	GRM7_ENST00000389336.4_Missense_Mutation_p.Q325R|GRM7_ENST00000403881.1_Missense_Mutation_p.Q325R|GRM7_ENST00000357716.4_Missense_Mutation_p.Q325R|GRM7_ENST00000402647.2_Missense_Mutation_p.Q325R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	325					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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.Q325R(2)		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)	CCACTGCACCAGCATGAAGAT	0.517000													28	143					0	0	0.005443	0	0
CDH6	1004	broad.mit.edu	37	5	31322949	31322949	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:31322949T>A	ENST00000265071.2	+	12	2172	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L636Q(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTGCAGCTCTGAGGCGGCAG	0.448000													52	163					0	0	0.003610	0	0
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408000													71	255					0	0	0.003610	0	0
MAT1A	4143	broad.mit.edu	37	10	82043734	82043734	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:82043734A>T	ENST00000372213.3	-	3	490	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	77					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.V77E(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGGTAGTCCACCATGGCCAT	0.592000													11	99					0	0	0.000978	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862065	128862065	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:128862065G>C	ENST00000274487.4	+	4	1129	c.984G>C	c.(982-984)gaG>gaC	p.E328D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	328	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E328D(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAACATAGAGACTGTAGTGG	0.393000													19	115					0	0	0.008871	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179864	90179864	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:90179864C>T	ENST00000370454.4	+	3	1990	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	579						endoplasmic reticulum membrane|integral to membrane		p.L579L(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGCACCAAGCTGGTGATGCT	0.463000													11	105					0	0	0.008291	0	0
YIPF1	54432	broad.mit.edu	37	1	54348884	54348884	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:54348884G>C	ENST00000371399.1	-	0	132				YIPF1_ENST00000539954.1_Missense_Mutation_p.P58A|YIPF1_ENST00000072644.1_Missense_Mutation_p.P33A|YIPF1_ENST00000469457.1_Intron			Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral to membrane|transport vesicle		p.P33A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTTCACCAGGATCCTCAATG	0.473000													10	173					0	0	0.006214	0	0
FLVCR2	55640	broad.mit.edu	37	14	76108196	76108196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:76108196G>C	ENST00000238667.4	+	9	1820	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	FLVCR2_ENST00000555027.1_Missense_Mutation_p.K203N|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Missense_Mutation_p.K283N|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	488					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.K488N(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATTCATTAAGGCAGATCTCC	0.433000													9	123					0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	30936620	30936620	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:30936620C>A	ENST00000355537.3	+	2	2298	c.2151C>A	c.(2149-2151)ccC>ccA	p.P717P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P717P(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCGCACCCCTCCTCGCCAT	0.682000													10	44					6.40141e-05	7.87663e-05	0.000978	1	0
FHOD3	80206	broad.mit.edu	37	18	34324149	34324149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:34324149C>A	ENST00000257209.4	+	20	3631	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	FHOD3_ENST00000592128.1_Nonsense_Mutation_p.S149*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S1153*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S1345*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S1132*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1153	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S1170*(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCACCAGGTCAGCCAAGGTA	0.562000													14	128					1.49906e-05	1.86758e-05	0.002450	1	0
ATP11C	286410	broad.mit.edu	37	X	138825775	138825775	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:138825775T>C	ENST00000370557.1	-	26	3991	c.2964A>G	c.(2962-2964)ggA>ggG	p.G988G	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.G994G|ATP11C_ENST00000361648.2_Silent_p.G994G|ATP11C_ENST00000327569.3_Silent_p.G994G|ATP11C_ENST00000359686.2_Silent_p.G994G			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	994					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G994G(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGTCCAGTTTCCGTATACCT	0.264000													8	12					0	0	0.006214	0	0
SCD5	79966	broad.mit.edu	37	4	83626448	83626448	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:83626448G>A	ENST00000319540.4	-	2	670	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCD5_ENST00000273908.4_Silent_p.S117S|SCD5_ENST00000282709.4_Silent_p.S117S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	117					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.S117S(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAAAGCCATGGAGTTGGCGA	0.607000													9	102					0	0	0.006214	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303752	46303752	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:46303752A>G	ENST00000221538.3	-	5	2010	c.1868T>C	c.(1867-1869)gTt>gCt	p.V623A	RSPH6A_ENST00000597055.1_Missense_Mutation_p.V623A|RSPH6A_ENST00000600188.1_Missense_Mutation_p.V359A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	623	Glu-rich.					intracellular		p.V623A(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGAGCGCACAACGGCCACTGA	0.637000													8	54					0	0	0.008291	0	0
LRRC6	23639	broad.mit.edu	37	8	133637568	133637568	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:133637568C>A	ENST00000519595.1	-	6	884	c.786G>T	c.(784-786)ttG>ttT	p.L262F	LRRC6_ENST00000250173.1_Missense_Mutation_p.L262F|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.L262F			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	262						cytoplasm		p.L262F(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAAGAGTTTCCAATCTTGATT	0.383000													11	69					2.31682e-05	2.86845e-05	0.003163	1	0
TFDP3	51270	broad.mit.edu	37	X	132351141	132351141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:132351141G>T	ENST00000310125.4	-	1	1235	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P383T(2)|p.P323T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCGACTGCTGGGGTCTCCACC	0.562000													28	89					7.41945e-09	1.02704e-08	0.005443	1	0
PASD1	139135	broad.mit.edu	37	X	150841089	150841089	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:150841089C>G	ENST00000370357.4	+	14	2117	c.1872C>G	c.(1870-1872)ttC>ttG	p.F624L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	624						nucleus	signal transducer activity	p.F624L(4)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCTTCTATCAAGATG	0.473000													31	72					0	0	0.002836	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	RNA	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:75476630T>G	ENST00000459803.1	-	0	726					NR_024241.1													p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582000													6	44					0	0	0.003080	0	0
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:107973450A>C	ENST00000370068.1	+	6	2012	c.1166A>C	c.(1165-1167)cAc>cCc	p.H389P	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370073.2_Missense_Mutation_p.H389P|NTNG1_ENST00000370072.3_Missense_Mutation_p.H389P|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453000													6	57					0	0	0.001168	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:10920118C>G	ENST00000298232.7	-	18	1449	c.1082G>C	c.(1081-1083)aGc>aCc	p.S361T	TPTE_ENST00000361285.4_Missense_Mutation_p.S379T|TPTE_ENST00000342420.5_Missense_Mutation_p.S341T|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													6	136					0	0	0.001984	0	0
CCDC57	284001	broad.mit.edu	37	17	80151915	80151915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:80151915C>A	ENST00000389641.4	-	5	755	c.719G>T	c.(718-720)aGg>aTg	p.R240M	CCDC57_ENST00000392343.3_Missense_Mutation_p.R240M|CCDC57_ENST00000392347.1_Missense_Mutation_p.R240M			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	240								p.R240M(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGGAGCTTCCTCTCCAGCTC	0.652000													24	76					1.10923e-09	1.57558e-09	0.002780	1	0
DNAI2	64446	broad.mit.edu	37	17	72297289	72297289	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:72297289G>A	ENST00000579490.1	+	7	1275	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	DNAI2_ENST00000446837.2_Silent_p.L323L|DNAI2_ENST00000582036.1_Silent_p.L323L|DNAI2_ENST00000311014.6_Silent_p.L323L|DNAI2_ENST00000307504.5_Silent_p.L180L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	323					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.L323L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCATCTCCCTGGAGTTCGAAT	0.527000									Kartagener syndrome				89	268					0	0	0.003610	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111929984	111929984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:111929984G>C	ENST00000375741.2	+	14	1783	c.1533G>C	c.(1531-1533)ttG>ttC	p.L511F	ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L255F|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L408F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L461F|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L333F|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L333F|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L418F|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.L167F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L333F|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L490F|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L333F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	511	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L333F(2)|p.L490F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTAATGTTGTCTGCCAGTC	0.294000													19	90					0	0	0.007413	0	0
MUC5B	727897	broad.mit.edu	37	11	1271072	1271072	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:1271072C>A	ENST00000447027.1	+	31	13029	c.12971C>A	c.(12970-12972)aCc>aAc	p.T4324N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4321N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4321	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4321N(2)|p.T4276N(2)		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)		TCCACAGCTACCAGCGTTACA	0.607000													25	177					9.93527e-08	1.33213e-07	0.002836	1	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:127727777T>A	ENST00000508053.1	-	17	2511	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_ENST00000262464.4_Missense_Mutation_p.T513S|FBN2_ENST00000508989.1_Missense_Mutation_p.T480S			P35556	FBN2_HUMAN	fibrillin 2	513	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T513S(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGAGACAGTTGGTATACAG	0.348000													38	86					0	0	0.006999	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239224	160239224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:160239224G>A	ENST00000392783.2	-	25	4346	c.3851C>T	c.(3850-3852)cCc>cTc	p.P1284L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1248L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1250L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1184L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P1284L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCTGGAGTGGGTGTGCCCAA	0.468000													10	67					0	0	0.006214	0	0
ITGAX	3687	broad.mit.edu	37	16	31391186	31391186	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31391186G>T	ENST00000268296.4	+	25	3097		c.e25+1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCAGGTACCCAAGGA	0.587000													10	55					7.48243e-07	9.74835e-07	0.006214	1	0
ANGEL1	23357	broad.mit.edu	37	14	77273815	77273815	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:77273815G>A	ENST00000251089.2	-	4	1019	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	303								p.H303Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCAGTAATGATCTTCCTGG	0.522000													22	46					0	0	0.003330	0	0
CCDC178	374864	broad.mit.edu	37	18	30791950	30791950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:30791950C>G	ENST00000383096.3	-	20	2330	c.2148G>C	c.(2146-2148)gaG>gaC	p.E716D	CCDC178_ENST00000579947.1_Missense_Mutation_p.E716D|CCDC178_ENST00000406524.2_Missense_Mutation_p.E716D|CCDC178_ENST00000583930.1_Missense_Mutation_p.E716D|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.E678D|CCDC178_ENST00000402325.1_Missense_Mutation_p.E716D|CCDC178_ENST00000403303.1_Missense_Mutation_p.E716D					coiled-coil domain containing 178									p.E716D(2)|p.E678D(2)									AGTCTTTTTTCTCTTGCATAT	0.343000													13	77					0	0	0.001855	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554394	140554394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:140554394G>C	ENST00000231137.3	+	1	2152	c.1978G>C	c.(1978-1980)Gtg>Ctg	p.V660L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V660L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.711000													18	172					0	0	0.001786	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887677	12887677	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:12887677A>G	ENST00000535591.1	-	3	375	c.180T>C	c.(178-180)ctT>ctC	p.L60L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	60										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGCACTTGAAGTTTCCATC	0.463000													6	374					0	0	0.003080	0	0
ATR	545	broad.mit.edu	37	3	142188251	142188251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:142188251C>G	ENST00000350721.4	-	38	6601	c.6480G>C	c.(6478-6480)ttG>ttC	p.L2160F	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.L2096F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2160	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L2160F(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTATTTCCATCAAGACAACAA	0.348000								Other conserved DNA damage response genes					12	141					0	0	0.001368	0	0
PTPRD	5789	broad.mit.edu	37	9	8465591	8465591	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:8465591C>A	ENST00000381196.4	-	29	4132	c.3589G>T	c.(3589-3591)Gat>Tat	p.D1197Y	PTPRD_ENST00000540109.1_Missense_Mutation_p.D1197Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1184Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D783Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1175Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.D786Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1197Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D786Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D783Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.D776Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1197					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1197Y(4)|p.D668Y(2)|p.D786Y(2)		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)		GGAAGGACATCAAAGTGAGCG	0.423000										TSP Lung(15;0.13)			34	134					9.65021e-13	1.49892e-12	0.002096	1	0
OR4C3	256144	broad.mit.edu	37	11	48347153	48347153	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:48347153G>A	ENST00000319856.4	+	1	682	c.661G>A	c.(661-663)Ggt>Agt	p.G221S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G221S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTATGTCATTGGTCTGCTGGT	0.507000													20	95					0	0	0.007413	0	0
KNDC1	85442	broad.mit.edu	37	10	135024994	135024994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:135024994G>T	ENST00000304613.3	+	22	3998	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	KNDC1_ENST00000368572.2_Missense_Mutation_p.W1328L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1326	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.W1326L(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGCAGGCCTGGGTGGAGGAC	0.647000													24	104					6.32553e-13	9.87642e-13	0.004656	1	0
IFI16	3428	broad.mit.edu	37	1	158988299	158988299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158988299C>A	ENST00000295809.7	+	5	1085	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	IFI16_ENST00000340979.6_Missense_Mutation_p.S277Y|IFI16_ENST00000359709.3_Missense_Mutation_p.S221Y|IFI16_ENST00000368132.3_Missense_Mutation_p.S277Y|IFI16_ENST00000368131.4_Missense_Mutation_p.S277Y|IFI16_ENST00000448393.2_Missense_Mutation_p.S277Y|IFI16_ENST00000430894.2_Missense_Mutation_p.S225Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	277	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.S277Y(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AATGAAGAATCTACTGTATCT	0.343000													16	99					6.94344e-10	1.00053e-09	0.006122	1	0
SYDE2	84144	broad.mit.edu	37	1	85648858	85648858	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:85648858A>G	ENST00000341460.5	-	3	1516	c.1467T>C	c.(1465-1467)aaT>aaC	p.N489N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	489					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.N489N(2)|p.N411N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCAGTACTATTTGTAGCAG	0.318000													13	119					0	0	0.001368	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543774	54543774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:54543774C>G	ENST00000566473.2	+	14	1624	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.H542D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	542								p.H542D(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAAGATCGACATGGAAACAT	0.403000													17	170					0	0	0.006122	0	0
MACROD2	140733	broad.mit.edu	37	20	14066278	14066278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:14066278C>T	ENST00000217246.4	+	3	570	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.Q59*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	59	Macro.							p.Q59*(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAAATACTCAGGAAACATC	0.318000													8	30					0	0	0.003080	0	0
COL4A6	1288	broad.mit.edu	37	X	107447623	107447623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:107447623C>G	ENST00000334504.7	-	12	940	c.707G>C	c.(706-708)gGc>gCc	p.G236A	COL4A6_ENST00000372216.4_Missense_Mutation_p.G237A|COL4A6_ENST00000545689.1_Missense_Mutation_p.G236A|COL4A6_ENST00000394872.2_Missense_Mutation_p.G234A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G236A	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	237	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G236A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGCTGGGCCAGGGAGGCC	0.478000									Alport syndrome with Diffuse Leiomyomatosis				8	45					0	0	0.004482	0	0
CELSR2	1952	broad.mit.edu	37	1	109812142	109812142	+	Silent	SNP	G	G	A	rs150014940		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:109812142G>A	ENST00000271332.3	+	21	6970	c.6909G>A	c.(6907-6909)acG>acA	p.T2303T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2303					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.T2303T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCCGTCACGGTGCAGTTCC	0.607000													24	105					0	0	0.002299	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31384649G>T	ENST00000268296.4	+	20	2567	c.2446G>T	c.(2446-2448)Gga>Tga	p.G816*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.G816*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACTCCTACGGAACCACCAT	0.607000													31	178					2.2171e-23	4.01766e-23	0.001786	1	0
NAA16	79612	broad.mit.edu	37	13	41892955	41892955	+	Missense_Mutation	SNP	G	G	C	rs143056243	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:41892955G>C	ENST00000379406.3	+	3	477	c.153G>C	c.(151-153)atG>atC	p.M51I	NAA16_ENST00000403412.3_Missense_Mutation_p.M51I|NAA16_ENST00000379367.3_Missense_Mutation_p.M51I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	51					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.M51I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTTTGGCTATGAAAGGATTAA	0.294000													9	67					0	0	0.004482	0	0
CCL14	6358	broad.mit.edu	37	17	34310883	34310883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:34310883C>A	ENST00000480944.2	-	2	2708	c.302G>T	c.(301-303)aGt>aTt	p.S101I	CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000586216.1_3'UTR|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000536149.1_Missense_Mutation_p.S95I|CCL14_ENST00000435911.2_Missense_Mutation_p.S95I|CCL14_ENST00000394509.4_Missense_Mutation_p.S79I			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	79					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.S79I(2)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTTGTCACTGGGGTTGGT	0.547000													20	103					9.86323e-18	1.69977e-17	0.003954	1	0
ATP8B2	57198	broad.mit.edu	37	1	154319215	154319215	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:154319215C>T	ENST00000368489.3	+	26	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1067					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1081P(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGTTTCCCAACCAGTTCC	0.517000													60	245					0	0	0.003610	0	0
TFDP3	51270	broad.mit.edu	37	X	132351139	132351139	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:132351139T>C	ENST00000310125.4	-	1	1237	c.1149A>G	c.(1147-1149)ccA>ccG	p.P383P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P323P(2)|p.P383P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCGACTGCTGGGGTCTCCA	0.562000													26	88					0	0	0.004656	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479746	12479746	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:12479746C>G	ENST00000409402.4	-	10	1623	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.K241N|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K318N|SPIRE1_ENST00000383356.2_Missense_Mutation_p.K279N|SPIRE1_ENST00000410092.3_Missense_Mutation_p.K438N	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	452						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.K279N(2)|p.K452N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTCTGAGGAGCTTCTTCCGCT	0.517000													13	73					0	0	0.002450	0	0
AAGAB	79719	broad.mit.edu	37	15	67500916	67500916	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:67500916C>G	ENST00000261880.5	-	7	803	c.699G>C	c.(697-699)caG>caC	p.Q233H	AAGAB_ENST00000561452.1_Missense_Mutation_p.Q124H|AAGAB_ENST00000542650.1_Missense_Mutation_p.Q124H|AAGAB_ENST00000538028.1_5'UTR	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	233					protein transport	cytoplasm		p.Q233H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGCTATCAACCTGGGCATCTG	0.473000													4	58					0	0	0.000602	0	0
SYPL2	284612	broad.mit.edu	37	1	110019410	110019410	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:110019410C>A	ENST00000369872.3	+	4	483	c.267C>A	c.(265-267)atC>atA	p.I89I	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.I89I	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	89	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.I89I(2)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCACCGGATCCAATATGAGA	0.592000													11	46					0.000673444	0.000800635	0.008291	1	0
STARD10	10809	broad.mit.edu	37	11	72492187	72492187	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:72492187G>A	ENST00000334805.6	-	2	959	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	STARD10_ENST00000545082.1_Missense_Mutation_p.R14W|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000543304.1_Missense_Mutation_p.R14W|STARD10_ENST00000538536.1_Missense_Mutation_p.R14W	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	14	START.							p.R14W(2)		endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGACCGGCCGAGGCCCTTGG	0.667000													14	100					0	0	0.002450	0	0
DHTKD1	55526	broad.mit.edu	37	10	12136268	12136268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:12136268C>G	ENST00000263035.4	+	7	1418	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	452					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I452M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACAAAATCATCAGGTACAATT	0.408000													9	88					0	0	0.004482	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121608168	121608168	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:121608168T>C	ENST00000393386.2	+	3	699	c.288T>C	c.(286-288)caT>caC	p.H96H	PTPRZ1_ENST00000449182.1_Silent_p.H96H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	96	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.H96H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATTCATTCATAACACTGGGA	0.303000													19	129					0	0	0.001882	0	0
SEMA3C	10512	broad.mit.edu	37	7	80380631	80380631	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:80380631C>G	ENST00000265361.3	-	16	2226	c.1665G>C	c.(1663-1665)gtG>gtC	p.V555V	SEMA3C_ENST00000544525.1_Silent_p.V573V|SEMA3C_ENST00000419255.2_Silent_p.V555V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	555					immune response|response to drug	membrane	receptor activity	p.V555V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCATGTCTCACATCTTGTC	0.393000													3	84					0	0	0.000248	0	0
GFI1	2672	broad.mit.edu	37	1	92948493	92948493	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:92948493C>T	ENST00000370332.1	-	3	544	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GFI1_ENST00000427103.1_Missense_Mutation_p.E76K|GFI1_ENST00000294702.5_Missense_Mutation_p.E76K	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	76				DSCEG -> RQLRS (in Ref. 1; AAB37272).	negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E76K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		ACGCTGCCTTCGCAGCTGTCT	0.662000													17	76					0	0	0.004007	0	0
DOCK2	1794	broad.mit.edu	37	5	169506137	169506137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:169506137C>A	ENST00000256935.8	+	49	5233	c.5153C>A	c.(5152-5154)tCg>tAg	p.S1718*	DOCK2_ENST00000540750.1_Nonsense_Mutation_p.S779*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.S1210*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1718					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1718*(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCAGAGTCGGACCTGAAG	0.567000													16	51					6.72482e-11	1.00285e-10	0.003163	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373000													9	73					0	0	0.006214	0	0
PDSS2	57107	broad.mit.edu	37	6	107531724	107531724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:107531724C>G	ENST00000369037.4	-	6	1204	c.927G>C	c.(925-927)atG>atC	p.M309I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.M309I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GATTAAAAGTCATGGAGTCAC	0.328000													16	96					0	0	0.004007	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667813	106667813	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:106667813G>T	ENST00000390606.2	-	0	180																											GGCTGCACAGGAGAGTCTCAG	0.572000													21	182					5.26018e-13	8.25613e-13	0.001882	1	0
SLC7A7	9056	broad.mit.edu	37	14	23242826	23242826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:23242826G>T	ENST00000397532.3	-	10	2054	c.1529C>A	c.(1528-1530)tCt>tAt	p.S510Y	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S244Y|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S510Y|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S510Y|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S510Y|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S510Y			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	510					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.S510Y(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TGTTTAGTTAGATTTGGGATC	0.488000													20	82					8.10497e-08	1.08916e-07	0.001523	1	0
ITPR1	3708	broad.mit.edu	37	3	4748018	4748018	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:4748018A>C	ENST00000354582.6	+	37	5175	c.4825A>C	c.(4825-4827)Atc>Ctc	p.I1609L	ITPR1_ENST00000456211.2_Missense_Mutation_p.I1585L|ITPR1_ENST00000443694.2_Missense_Mutation_p.I1594L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I1600L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I1600L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I1594L|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1609					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.I1585L(2)|p.I1600L(2)|p.I1594L(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTACCGGAATATCATTGAGAG	0.542000													7	29					0	0	0.003080	0	0
SYN3	8224	broad.mit.edu	37	22	32934062	32934062	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:32934062T>C	ENST00000358763.2	-	9	1194	c.952A>G	c.(952-954)Aca>Gca	p.T318A	SYN3_ENST00000332840.5_Missense_Mutation_p.T318A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	318	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T318A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGAGCCTGTGTTGGCCTTC	0.527000													17	182					0	0	0.008871	0	0
GFRA3	2676	broad.mit.edu	37	5	137593429	137593429	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:137593429C>A	ENST00000274721.3	-	4	930	c.684G>T	c.(682-684)ggG>ggT	p.G228G	GFRA3_ENST00000378362.3_Silent_p.G197G	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	228					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGCGCTCCCCGCAGCCCC	0.706000													10	35					9.70103e-10	1.39118e-09	0.008291	1	0
KRBA1	84626	broad.mit.edu	37	7	149419947	149419947	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:149419947G>T	ENST00000255992.10	+	7	1071	c.672G>T	c.(670-672)cgG>cgT	p.R224R	KRBA1_ENST00000485033.2_Silent_p.R224R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.R224R	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	224								p.R224R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCCCCGGCACCCCGAGA	0.637000													22	100					9.95505e-16	1.67222e-15	0.002299	1	0
MMP16	4325	broad.mit.edu	37	8	89053922	89053922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:89053922C>A	ENST00000286614.6	-	10	1872	c.1591G>T	c.(1591-1593)Ggc>Tgc	p.G531C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	531	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G531C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATCACAGCCCATAAAATCC	0.428000													33	129					2.68265e-12	4.10288e-12	0.002836	1	0
CNGA4	1262	broad.mit.edu	37	11	6262724	6262724	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:6262724T>A	ENST00000379936.2	+	5	1096	c.981T>A	c.(979-981)ccT>ccA	p.P327P	CNGA4_ENST00000533426.1_Silent_p.P96P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	327					response to stimulus|sensory perception of smell		cAMP binding	p.P327P(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTTGCCTGAGCGGCTGC	0.562000													12	126					0	0	0.007413	0	0
AKAP1	8165	broad.mit.edu	37	17	55184111	55184111	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:55184111C>T	ENST00000337714.3	+	2	1519	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	AKAP1_ENST00000314126.3_Missense_Mutation_p.S429L|AKAP1_ENST00000539273.1_Missense_Mutation_p.S429L|AKAP1_ENST00000572557.1_Missense_Mutation_p.S429L|AKAP1_ENST00000571629.1_Missense_Mutation_p.S429L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	429					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.S429L(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCAGAGGGCTCACCACCACCA	0.622000													21	140					0	0	0.008871	0	0
USP32	84669	broad.mit.edu	37	17	58256678	58256678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:58256678C>A	ENST00000300896.4	-	34	4947	c.4753G>T	c.(4753-4755)Gac>Tac	p.D1585Y	USP32_ENST00000592339.1_Missense_Mutation_p.D1255Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1585					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D1585Y(2)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTTGTGTCTGCCATCTTT	0.448000													48	144					9.58827e-17	1.63823e-16	0.003610	1	0
COTL1	23406	broad.mit.edu	37	16	84623799	84623799	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:84623799G>A	ENST00000262428.4	-	3	392	c.230C>T	c.(229-231)gCc>gTc	p.A77V	COTL1_ENST00000564057.1_Missense_Mutation_p.A8V	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	77	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CGTGATGAGGGCAAACTTGGA	0.577000													4	153					0	0	0.000602	0	0
MAG	4099	broad.mit.edu	37	19	35790577	35790577	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:35790577G>A	ENST00000361922.4	+	5	686	c.536G>A	c.(535-537)gGg>gAg	p.G179E	MAG_ENST00000537831.2_Missense_Mutation_p.G154E|MAG_ENST00000597035.1_3'UTR|MAG_ENST00000392213.3_Missense_Mutation_p.G179E	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	179	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.G179E(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCACGAGGGGCTGGGGGAG	0.716000													3	20					0	0	0.004672	0	0
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:101795440G>A	ENST00000251127.6	-	17	2190	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	703						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I703I(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468000													24	156					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9049935	9049935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9049935C>G	ENST00000397910.4	-	5	31899	c.31696G>C	c.(31696-31698)Gag>Cag	p.E10566Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10568	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10566Q(2)|p.E6199Q(2)		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						GCTGTGGTCTCTGATTCTCTA	0.488000													34	189					0	0	0.002445	0	0
MGAT4A	11320	broad.mit.edu	37	2	99261914	99261914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:99261914T>C	ENST00000393487.1	-	9	1179	c.866A>G	c.(865-867)gAg>gGg	p.E289G	MGAT4A_ENST00000409391.1_Missense_Mutation_p.E289G|MGAT4A_ENST00000264968.2_Missense_Mutation_p.E289G|MGAT4A_ENST00000414521.2_Missense_Mutation_p.E161G	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	289					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.E289G(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTGGGAAAACTCTAGAATCAT	0.323000													9	143					0	0	0.006214	0	0
COL4A6	1288	broad.mit.edu	37	X	107418937	107418937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:107418937C>A	ENST00000334504.7	-	29	3010	c.2777G>T	c.(2776-2778)gGa>gTa	p.G926V	COL4A6_ENST00000372216.4_Missense_Mutation_p.G927V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G926V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G927V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G926V	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	927	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G926V(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCAGTTGATCCTGGAATTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				17	53					3.52763e-06	4.4411e-06	0.004990	1	0
MMP20	9313	broad.mit.edu	37	11	102464323	102464323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:102464323G>T	ENST00000260228.2	-	8	1106	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	365	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P365H(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGTAGTGGGGACCTGAAAA	0.418000													16	99					4.7546e-09	6.64311e-09	0.004007	1	0
WIPI1	55062	broad.mit.edu	37	17	66430737	66430737	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:66430737C>T	ENST00000262139.5	-	7	651	c.652G>A	c.(652-654)Gat>Aat	p.D218N	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.D136N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	218					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.D218N(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTGCCCATCAGGGACAGAG	0.498000													7	88					0	0	0.004482	0	0
PID1	55022	broad.mit.edu	37	2	230020666	230020666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:230020666C>A	ENST00000392054.3	-	3	477	c.138G>T	c.(136-138)atG>atT	p.M46I	PID1_ENST00000482518.2_5'UTR|PID1_ENST00000392055.3_Missense_Mutation_p.M15I|PID1_ENST00000354069.6_Missense_Mutation_p.M48I|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	48						cytoplasm		p.M46I(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TAGACTTCAGCATGGTCTGAA	0.438000													26	168					3.08376e-08	4.21025e-08	0.003330	1	0
PPP1R7	5510	broad.mit.edu	37	2	242092932	242092932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:242092932G>T	ENST00000234038.6	+	2	568	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G32W|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Intron	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	32						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.G32W(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGATGAAGAAGGGAAGAAACA	0.547000													20	97					1.9806e-07	2.632e-07	0.002299	1	0
COL22A1	169044	broad.mit.edu	37	8	139628254	139628254	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:139628254G>C	ENST00000303045.6	-	55	4360	c.3914C>G	c.(3913-3915)cCa>cGa	p.P1305R	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1285R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1305	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1305R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATCTTTTCCTGGTAACCCTTC	0.567000										HNSCC(7;0.00092)			33	113					0	0	0.003271	0	0
RASSF8	11228	broad.mit.edu	37	12	26217434	26217434	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:26217434G>C	ENST00000405154.2	+	3	306	c.107G>C	c.(106-108)cGa>cCa	p.R36P	RASSF8_ENST00000541490.1_Missense_Mutation_p.R36P|RASSF8_ENST00000381352.3_Missense_Mutation_p.R36P|RASSF8_ENST00000282884.9_Missense_Mutation_p.R36P|RASSF8_ENST00000542865.1_Missense_Mutation_p.R36P	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	36	Ras-associating.				signal transduction			p.R36P(4)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TACATAGGTCGAACTGGAAGG	0.338000													53	164					0	0	0.003610	0	0
COG5	10466	broad.mit.edu	37	7	107013135	107013135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:107013135C>T	ENST00000393603.2	-	8	1104	c.833G>A	c.(832-834)aGt>aAt	p.S278N	COG5_ENST00000347053.3_Missense_Mutation_p.S278N|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.S278N	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	278					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.S278N(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCCACAACACTGGTAATAGT	0.398000													13	92					0	0	0.001368	0	0
LRRK2	120892	broad.mit.edu	37	12	40689416	40689416	+	Silent	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:40689416A>C	ENST00000298910.7	+	23	3124	c.3066A>C	c.(3064-3066)gcA>gcC	p.A1022A	LRRK2_ENST00000343742.2_Silent_p.A1022A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1022					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A1022A(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGAATGCACTCACGAGCT	0.348000													18	105					0	0	0.001523	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:63010527C>G	ENST00000439174.2	-	4	1227	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	GNA13_ENST00000541118.1_Missense_Mutation_p.E233Q	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	328					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000													14	155					0	0	0.003163	0	0
NOL6	65083	broad.mit.edu	37	9	33467207	33467207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:33467207C>A	ENST00000379471.2	-	14	1866	c.1779G>T	c.(1777-1779)caG>caT	p.Q593H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.Q541H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	593					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.Q593H(2)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGCTCCGTCCTGGAAACGCC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	84					4.3838e-07	5.73635e-07	0.001855	1	0
OR11H4	390442	broad.mit.edu	37	14	20711267	20711267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:20711267G>T	ENST00000315409.2	+	1	370	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCATTTTCTGGGTGCTTCCTC	0.453000													50	174					1.81118e-26	3.34286e-26	0.003610	1	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185390	32185390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:32185390C>A	ENST00000329621.4	-	1	180	c.149G>T	c.(148-150)gGg>gTg	p.G50V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						GCCGAAAGCCCCACAGCCGTT	0.562000													14	97					1.3612e-06	1.75054e-06	0.003163	1	0
KPNB1	3837	broad.mit.edu	37	17	45755523	45755523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:45755523C>G	ENST00000290158.4	+	18	2622	c.2215C>G	c.(2215-2217)Ctt>Gtt	p.L739V	KPNB1_ENST00000535458.2_Missense_Mutation_p.L594V|KPNB1_ENST00000537679.1_Missense_Mutation_p.L523V|KPNB1_ENST00000540627.1_Missense_Mutation_p.L594V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	739					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.L739V(2)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTGAATACTCTTCAGCAGGC	0.438000													26	219					0	0	0.003954	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097635	38097635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:38097635G>T	ENST00000261439.4	+	14	2677	c.2322G>T	c.(2320-2322)tgG>tgT	p.W774C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.W868C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	774						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTACAGTGTGGGAAAAGATGC	0.408000													28	212					4.87955e-14	7.82299e-14	0.005443	1	0
USP9X	8239	broad.mit.edu	37	X	41064746	41064746	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:41064746G>T	ENST00000324545.7	+	32	5648	c.5015_splice	c.e32+1	p.R1672_splice	USP9X_ENST00000378308.2_Splice_Site_p.R1672_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1672					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.R1672M(2)|p.R1665M(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACAGTTCAGGTAAACTATG	0.373000													22	74					1.10513e-12	1.70767e-12	0.002299	1	0
TBC1D16	125058	broad.mit.edu	37	17	77925310	77925310	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:77925310T>A	ENST00000310924.2	-	5	1143	c.1028A>T	c.(1027-1029)gAc>gTc	p.D343V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	343						intracellular	Rab GTPase activator activity	p.D343V(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGACAGCTTGTCCAGGCCGCC	0.612000													26	140					0	0	0.004656	0	0
EPHA6	285220	broad.mit.edu	37	3	96706286	96706286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:96706286G>T	ENST00000389672.5	+	3	601	c.563G>T	c.(562-564)cGt>cTt	p.R188L	EPHA6_ENST00000470610.2_Missense_Mutation_p.R188L|EPHA6_ENST00000542517.1_Missense_Mutation_p.R94L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	93	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R94L(4)|p.R188L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGATCTCCCGTGATGCAGCT	0.403000													48	160					3.54909e-21	6.29779e-21	0.002852	1	0
OR6V1	346517	broad.mit.edu	37	7	142749605	142749605	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:142749605C>G	ENST00000418316.1	+	1	189	c.168C>G	c.(166-168)ccC>ccG	p.P56P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56P(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TACATACACCCATGTACTTCT	0.498000													62	364					0	0	0.003610	0	0
DPEP2	64174	broad.mit.edu	37	16	68021439	68021439	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:68021439G>T	ENST00000412757.2	-	12	2096	c.1431C>A	c.(1429-1431)gcC>gcA	p.A477A	DPEP2_ENST00000572888.1_Silent_p.A477A|DPEP2_ENST00000393847.1_Silent_p.A477A			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	477					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.A477A(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGGGAAGGTGGCCACAACTG	0.547000													71	293					1.15062e-32	2.15022e-32	0.003610	1	0
IARS2	55699	broad.mit.edu	37	1	220311269	220311269	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:220311269A>G	ENST00000366922.1	+	17	2174	c.1843A>G	c.(1843-1845)Aaa>Gaa	p.K615E	IARS2_ENST00000302637.5_Missense_Mutation_p.K687E			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	687					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.K687E(2)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGATCAAAGCAAAGAGCCTCC	0.418000													15	151					0	0	0.004990	0	0
DERL1	79139	broad.mit.edu	37	8	124033690	124033690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:124033690C>A	ENST00000259512.4	-	6	803	c.503G>T	c.(502-504)gGc>gTc	p.G168V	DERL1_ENST00000519018.1_Missense_Mutation_p.G68V|DERL1_ENST00000419562.2_Missense_Mutation_p.G68V|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Missense_Mutation_p.G68V|DERL1_ENST00000405944.3_Missense_Mutation_p.G168V	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	168					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	p.G168V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CACTTACGAGCCTCCGATGAT	0.353000													30	234					1.38854e-25	2.54708e-25	0.008361	1	0
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:98146809G>T	ENST00000357947.3	-	14	1978	c.1753C>A	c.(1753-1755)Cac>Aac	p.H585N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592000													11	113					1.56452e-12	2.4113e-12	0.007413	1	0
ANGPT4	51378	broad.mit.edu	37	20	869027	869027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:869027G>A	ENST00000381922.3	-	3	623	c.521C>T	c.(520-522)aCc>aTc	p.T174I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T174I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	174					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T174I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTTGTTGGTGGACAGAAA	0.582000													21	97					0	0	0.001523	0	0
MYOCD	93649	broad.mit.edu	37	17	12647645	12647645	+	Missense_Mutation	SNP	G	G	C	rs140013261	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:12647645G>C	ENST00000425538.1	+	8	1063	c.863G>C	c.(862-864)cGg>cCg	p.R288P	MYOCD_ENST00000343344.4_Missense_Mutation_p.R288P|MYOCD_ENST00000395988.1_Missense_Mutation_p.R192P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	288					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R288P(4)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTACGCTCGGCTGCTCCAG	0.557000													17	81					0	0	0.004990	0	0
OR5M3	219482	broad.mit.edu	37	11	56237426	56237426	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:56237426A>T	ENST00000312240.2	-	1	588	c.548T>A	c.(547-549)aTc>aAc	p.I183N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCATTTTGATGAGAGGTGG	0.408000													31	177					0	0	0.002096	0	0
EPG5	57724	broad.mit.edu	37	18	43497731	43497731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:43497731G>C	ENST00000282041.5	-	17	3186	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1051					autophagy			p.S1051*(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAAATGTCTTGACTGGACCAG	0.428000													6	172					0	0	0.001984	0	0
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:114284743G>T	ENST00000393500.3	+	14	1588	c.768G>T	c.(766-768)tcG>tcT	p.S256S	FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000350908.4_Silent_p.S331S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000393494.2_Silent_p.S331S|FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000403559.4_Silent_p.S348S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468000													11	80					7.03913e-09	9.7893e-09	0.001368	1	0
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692000													32	175					0	0	0.008361	0	0
GRID2	2895	broad.mit.edu	37	4	94159624	94159624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:94159624G>T	ENST00000282020.4	+	8	1486	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	GRID2_ENST00000510992.1_Missense_Mutation_p.G315C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	410					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G410C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGAGCTTGGCAGAGGTGT	0.408000													26	189					1.26454e-06	1.63679e-06	0.005443	1	0
KMT2D	8085	broad.mit.edu	37	12	49436374	49436374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:49436374C>G	ENST00000301067.7	-	27	5836	c.5837G>C	c.(5836-5838)gGc>gCc	p.G1946A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1946A(2)|p.G1676A(2)									CTGGCAGAGGCCTGGGTAGGA	0.557000													27	64					0	0	0.005443	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184741	32184741	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:32184741G>T	ENST00000375023.3	-	11	1980	c.1842C>A	c.(1840-1842)ctC>ctA	p.L614L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	614	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L614L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGAGGGGCAGAGGCAAAAGA	0.527000													23	118					1.85244e-09	2.61264e-09	0.003330	1	0
WDR89	112840	broad.mit.edu	37	14	64065848	64065848	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:64065848T>C	ENST00000394942.2	-	2	901	c.813A>G	c.(811-813)gaA>gaG	p.E271E	WDR89_ENST00000267522.3_Silent_p.E271E|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	271								p.E271E(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CCAAAGCATCTTCTTTCATGT	0.373000													64	240					0	0	0.003610	0	0
PCDH10	57575	broad.mit.edu	37	4	134073054	134073054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:134073054C>A	ENST00000264360.4	+	1	2585	c.1759C>A	c.(1759-1761)Cgt>Agt	p.R587S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R587S(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTCCAGCGCGTGAGGTGCT	0.662000													9	87					0.00829132	0.00960893	0.008291	1	0
POLE	5426	broad.mit.edu	37	12	133256133	133256133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:133256133C>G	ENST00000320574.5	-	6	571	c.528G>C	c.(526-528)aaG>aaC	p.K176N	POLE_ENST00000535270.1_Missense_Mutation_p.K149N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	176					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.K176N(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCCCTGTTCTTCTTCACGG	0.507000								DNA polymerases (catalytic subunits)					21	158					0	0	0.002780	0	0
EIF2D	1939	broad.mit.edu	37	1	206785640	206785640	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:206785640C>A	ENST00000271764.2	-	1	264	c.56_splice	c.e1+1	p.R19_splice	EIF2D_ENST00000367114.3_Splice_Site_p.R19_splice	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	19					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.R19M(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCCCTCACCTGTCCGACCC	0.617000													48	141					5.13769e-22	9.19861e-22	0.003610	1	0
FMN2	56776	broad.mit.edu	37	1	240370500	240370500	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:240370500C>A	ENST00000319653.9	+	5	2618	c.2388C>A	c.(2386-2388)gtC>gtA	p.V796V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	796	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.V939V(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAATATCAGTCCAGCTCGACA	0.577000													46	121					6.68952e-21	1.17657e-20	0.003214	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587734	40587734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:40587734C>A	ENST00000450241.2	-	5	433	c.122G>T	c.(121-123)cGg>cTg	p.R41L	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R76L|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R76L|ZNF780A_ENST00000414720.2_Missense_Mutation_p.R91L|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R75L|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R75L			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCTGGATACCGTCTGCTTGT	0.443000													14	116					3.99206e-14	6.48709e-14	0.007413	1	0
NELL2	4753	broad.mit.edu	37	12	45000952	45000952	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:45000952C>A	ENST00000429094.2	-	15	2167	c.1663_splice	c.e15+1	p.D555_splice	NELL2_ENST00000395487.2_Splice_Site_p.D554_splice|NELL2_ENST00000452445.2_Splice_Site_p.D555_splice|NELL2_ENST00000437801.2_Splice_Site_p.D605_splice|NELL2_ENST00000551601.1_Splice_Site_p.D554_splice|NELL2_ENST00000333837.4_Splice_Site_p.D578_splice|NELL2_ENST00000549027.1_Splice_Site_p.D554_splice	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	555	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D555Y(1)|p.D605Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATATTCTTACCCGTTTCACAG	0.408000													29	82					3.17567e-06	4.0149e-06	0.008361	1	0
CDH10	1008	broad.mit.edu	37	5	24509715	24509715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:24509715C>A	ENST00000264463.4	-	7	1723	c.1216G>T	c.(1216-1218)Gta>Tta	p.V406L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V406L(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCCATTACAGTACCAATG	0.438000										HNSCC(23;0.051)			22	130					1.10923e-09	1.57558e-09	0.002780	1	0
VAC14	55697	broad.mit.edu	37	16	70765433	70765433	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:70765433C>T	ENST00000261776.5	-	14	1886	c.1626G>A	c.(1624-1626)cgG>cgA	p.R542R		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	542					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R542R(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGGAGCTTCCGTTCGCTGC	0.507000													8	189					0	0	0.006214	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394394	233394394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:233394394C>A	ENST00000258229.8	-	5	1448	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	405						integral to membrane		p.S405I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGACTTTACACTGGTCTTCTC	0.532000													28	224					7.01153e-11	1.04042e-10	0.007291	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69034445	69034445	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:69034445A>G	ENST00000295381.3	+	5	923	c.504A>G	c.(502-504)gaA>gaG	p.E168E	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.E129E|ARHGAP25_ENST00000409202.3_Silent_p.E169E|ARHGAP25_ENST00000409220.1_Silent_p.E162E|ARHGAP25_ENST00000497079.1_Silent_p.E162E|ARHGAP25_ENST00000544262.1_Silent_p.E143E|ARHGAP25_ENST00000409030.3_Silent_p.E161E	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	168	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E162E(2)|p.E169E(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGCCTATGAACAGAAATTCG	0.542000													19	68					0	0	0.008871	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325952	15325952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:15325952T>A	ENST00000378116.4	-	2	256	c.250A>T	c.(250-252)Agt>Tgt	p.S84C		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	84						integral to membrane		p.S84C(4)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCAACTGACTGCCCAGCTTA	0.537000													17	136					0	0	0.006122	0	0
DDX11	1663	broad.mit.edu	37	12	31253967	31253967	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:31253967T>G	ENST00000407793.2	+	20	2206	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.V652G|DDX11_ENST00000228264.6_Missense_Mutation_p.V626G|DDX11_ENST00000542838.1_Missense_Mutation_p.V652G|DDX11_ENST00000545668.1_Missense_Mutation_p.V652G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.V652G(4)|p.V652A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTCACGTGATCCCTCCA	0.577000										Multiple Myeloma(12;0.14)			62	252					0	0	0.003610	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													5	86					0	0	0.006214	0	0
DCT	1638	broad.mit.edu	37	13	95121061	95121061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:95121061G>T	ENST00000377028.5	-	2	947	c.534C>A	c.(532-534)aaC>aaA	p.N178K	DCT_ENST00000446125.1_Missense_Mutation_p.N178K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	178					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.N178K(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAACACTGCAGTTGGCAAACT	0.453000													55	227					1.27862e-28	2.38198e-28	0.003610	1	0
GPR61	83873	broad.mit.edu	37	1	110086511	110086511	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:110086511C>A	ENST00000527748.1	+	2	1550	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	289						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L289L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGTGGTTCTCCTGGCTGTGG	0.617000													24	122					3.99451e-17	6.86413e-17	0.001786	1	0
TUBA8	51807	broad.mit.edu	37	22	18613793	18613793	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:18613793G>A	ENST00000330423.3	+	5	1313	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E414K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AGAGGGGATGGAAGAAGGAGA	0.542000													20	92					0	0	0.007413	0	0
CLRN2	645104	broad.mit.edu	37	4	17524543	17524543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:17524543C>A	ENST00000511148.2	+	2	412	c.310C>A	c.(310-312)Ctc>Atc	p.L104I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	104						integral to membrane		p.L121I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATTCTGCTGCTCCTCTTCCT	0.557000													40	258					5.04308e-16	8.54323e-16	0.006230	1	0
MYH13	8735	broad.mit.edu	37	17	10222113	10222113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10222113C>G	ENST00000418404.3	-	26	3895	c.3732G>C	c.(3730-3732)aaG>aaC	p.K1244N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1244N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1244N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1244N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTACCTTTGACTTGGAGAGAG	0.562000													14	106					0	0	0.004990	0	0
PAX4	5078	broad.mit.edu	37	7	127253901	127253901	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:127253901A>T	ENST00000341640.2	-	4	652	c.447T>A	c.(445-447)agT>agA	p.S149R	PAX4_ENST00000338516.3_Missense_Mutation_p.S157R|PAX4_ENST00000463946.1_Missense_Mutation_p.S147R|PAX4_ENST00000378740.2_Missense_Mutation_p.S149R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	157					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S149R(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCAGAGCCACTATGGGGAG	0.572000													16	98					0	0	0.004990	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858239	27858239	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:27858239C>G	ENST00000359303.2	-	1	331	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111S(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GTGAATAGCACAGAGGTTGGT	0.547000													15	124					0	0	0.003163	0	0
BRINP2	57795	broad.mit.edu	37	1	177250580	177250580	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:177250580G>T	ENST00000361539.4	+	8	2580	c.2268G>T	c.(2266-2268)gtG>gtT	p.V756V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		756						extracellular region		p.V756V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACAATGAGGTGGGCAGGATCC	0.552000													23	154					1.10923e-09	1.57558e-09	0.002780	1	0
PAX2	5076	broad.mit.edu	37	10	102584414	102584414	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:102584414T>A	ENST00000370296.2	+	9	1548	c.998T>A	c.(997-999)aTg>aAg	p.M333K	PAX2_ENST00000355243.3_Missense_Mutation_p.M310K|PAX2_ENST00000361791.3_Missense_Mutation_p.M310K|PAX2_ENST00000428433.1_Missense_Mutation_p.M333K|PAX2_ENST00000556085.1_Missense_Mutation_p.M309K			Q02962	PAX2_HUMAN	paired box 2	333					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.M333K(2)|p.M310K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTCGTGACATGGCGAGCACC	0.612000													33	196					0	0	0.003271	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133049	91133049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:91133049G>T	ENST00000373094.1	+	2	2655	c.1810G>T	c.(1810-1812)Gca>Tca	p.A604S	PCDH11X_ENST00000504220.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A604S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A604S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A604S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A604S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	604	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.A604S(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGACAATTCTGCAGTTACGCT	0.383000													17	36					4.87955e-14	7.82299e-14	0.005443	1	0
FBXO40	51725	broad.mit.edu	37	3	121341414	121341414	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:121341414A>T	ENST00000338040.4	+	3	1552	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	380					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.T380S(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGCAGTGGATACTTCAGATTT	0.483000													41	121					0	0	0.002522	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305908	9305908	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrY:9305908G>T	ENST00000451548.1	+	3	610		c.e3-1		AC006156.1_ENST00000450145.1_Intron|AC006156.1_ENST00000423213.1_Intron|TSPY1_ENST00000423647.2_Splice_Site|TSPY3_ENST00000440483.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1						cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	p.?(2)		lung(4)	4						TGTCCTGACAGGTGGGAGAAG	0.458000													37	413					6.70999e-13	1.04494e-12	0.004289	1	0
ROBO2	6092	broad.mit.edu	37	3	75986693	75986693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:75986693C>T	ENST00000487694.3	+	2	328	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P17S(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACATGGGCTCCGGGACTGTT	0.458000													4	33					0	0	0.000248	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634999	122634999	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:122634999G>A	ENST00000249284.2	-	1	755	c.690C>T	c.(688-690)gcC>gcT	p.A230A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A230A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAATAAGACGGCAAGGGACC	0.433000													25	133					0	0	0.002780	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:57896476G>T	ENST00000381227.1	+	25	3759	c.3346G>T	c.(3346-3348)Gtt>Ttt	p.V1116F	POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116F|POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109F|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(2)|p.V1116I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000													19	116					5.03518e-11	7.54647e-11	0.007413	1	0
LAMA1	284217	broad.mit.edu	37	18	6943380	6943380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:6943380C>A	ENST00000389658.3	-	62	8959	c.8866G>T	c.(8866-8868)Ggt>Tgt	p.G2956C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2956	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2956C(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCAGCACCATTGTTGACA	0.408000													18	162					9.16793e-09	1.26323e-08	0.004990	1	0
SLC5A1	6523	broad.mit.edu	37	22	32482262	32482262	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:32482262T>A	ENST00000266088.4	+	10	1327	c.1077T>A	c.(1075-1077)gtT>gtA	p.V359V	SLC5A1_ENST00000543737.1_Silent_p.V232V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	359					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.V359V(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTACCAAGGTTGGCTGTACCA	0.493000													34	179					0	0	0.002836	0	0
GABBR2	9568	broad.mit.edu	37	9	101216375	101216375	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:101216375G>T	ENST00000259455.2	-	7	1583	c.1124C>A	c.(1123-1125)aCa>aAa	p.T375K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	375					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T375K(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCATGCAGTGTCTCCATGGC	0.592000													15	67					1.99824e-07	2.63785e-07	0.004990	1	0
DNAH2	146754	broad.mit.edu	37	17	7734558	7734558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:7734558C>G	ENST00000572933.1	+	80	13845	c.12385C>G	c.(12385-12387)Ctc>Gtc	p.L4129V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4129V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4129					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L4129V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCACAAACCCTCTTTGATAC	0.562000													25	339					0	0	0.003954	0	0
CDH20	28316	broad.mit.edu	37	18	59166451	59166451	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:59166451C>A	ENST00000262717.4	+	3	677	c.279C>A	c.(277-279)tcC>tcA	p.S93S	CDH20_ENST00000536675.2_Silent_p.S93S|CDH20_ENST00000538374.1_Silent_p.S93S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	93	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S93S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGACGGATCCATCAAATACA	0.483000													6	60					0.00198382	0.00233528	0.001984	1	0
FAM107A	11170	broad.mit.edu	37	3	58555486	58555486	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:58555486C>A	ENST00000394481.1	-	3	660	c.102G>T	c.(100-102)ctG>ctT	p.L34L	FAM107A_ENST00000474531.1_Silent_p.L65L|FAM107A_ENST00000447756.2_Silent_p.L62L|FAM107A_ENST00000464064.1_Silent_p.L34L|FAM107A_ENST00000360997.2_Silent_p.L34L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	34					regulation of cell growth	nucleus	protein binding	p.L34L(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CGGGGTTCAGCAGCTTCTTGG	0.622000													27	156					2.48779e-11	3.74736e-11	0.005443	1	0
OR2L3	391192	broad.mit.edu	37	1	248224602	248224602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248224602G>T	ENST00000359959.3	+	1	619	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207L(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CATCTTTCTCGTGTTTCCCTT	0.493000													19	283					7.87624e-14	1.25936e-13	0.002780	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851711	14851711	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:14851711A>T	ENST00000358984.4	+	36	3591	c.3411A>T	c.(3409-3411)gtA>gtT	p.V1137V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1222								p.V1137V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAACAGTAACAAAAAGGG	0.353000													6	47					0	0	0.001168	0	0
HOXD12	3238	broad.mit.edu	37	2	176965302	176965302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:176965302C>A	ENST00000406506.2	+	2	699	c.627C>A	c.(625-627)taC>taA	p.Y209*	HOXD12_ENST00000404162.2_Missense_Mutation_p.H219N			P35452	HXD12_HUMAN	homeobox D12	209						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y209*(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGAAACCCTACACGAAGCAGC	0.587000													6	21					0.00116845	0.00137817	0.001168	1	0
TMEM168	64418	broad.mit.edu	37	7	112424746	112424746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:112424746C>A	ENST00000312814.5	-	2	695	c.135G>T	c.(133-135)ttG>ttT	p.L45F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L45F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	45						integral to membrane|transport vesicle		p.L45F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATATAGCAACCAATAAATTGA	0.348000													15	74					6.31663e-08	8.50753e-08	0.003163	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896946	48896946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:48896946C>T	ENST00000394754.1	+	9	3290	c.3176C>T	c.(3175-3177)aCa>aTa	p.T1059I	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T321I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1059I|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T355I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1012I|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1059I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1012					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T4I(4)|p.T1059I(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCGGTGATACATCTTCCAAT	0.378000													20	145					0	0	0.007413	0	0
LRRN2	10446	broad.mit.edu	37	1	204588984	204588984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:204588984G>T	ENST00000367175.1	-	1	2349	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	LRRN2_ENST00000367177.3_Missense_Mutation_p.S46Y|LRRN2_ENST00000367176.3_Missense_Mutation_p.S46Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	46	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.S46Y(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCGCGGTAGGACGAGCGGGG	0.667000													9	81					0.00448238	0.00522508	0.004482	1	0
GRK5	2869	broad.mit.edu	37	10	121212201	121212201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:121212201A>T	ENST00000392870.2	+	14	1752	c.1423A>T	c.(1423-1425)Aag>Tag	p.K475*	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Nonsense_Mutation_p.K370*	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	475	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.K475*(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGTACTGTAAGGACGTGCT	0.622000													13	88					0	0	0.001855	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143691	142143691	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:142143691G>T	ENST00000390373.2	-	0	304																											AGTCTGAGAGGGAGCAGCTGA	0.527000													18	143					6.94344e-10	1.00053e-09	0.006122	1	0
EPHA4	2043	broad.mit.edu	37	2	222428583	222428583	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:222428583C>A	ENST00000281821.2	-	3	732	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	EPHA4_ENST00000392071.4_Missense_Mutation_p.G180C|EPHA4_ENST00000409938.1_Missense_Mutation_p.G231C|EPHA4_ENST00000409854.1_Missense_Mutation_p.G231C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G231C(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACACAGGAGCCTCGAACTTCC	0.512000													36	221					3.62531e-18	6.30213e-18	0.004289	1	0
KRT16P6	353194	broad.mit.edu	37	17	16723389	16723389	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:16723389G>T	ENST00000417510.1	-	0	730																											CCACACTCATGCGCAGGTTCA	0.562000													8	146					1.26484e-09	1.79236e-09	0.003080	1	0
AHI1	54806	broad.mit.edu	37	6	135611635	135611635	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:135611635C>T	ENST00000367800.4	-	26	3730	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	AHI1_ENST00000417892.2_3'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.E1172K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1172						adherens junction|cilium|microtubule basal body		p.E1172K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGGTCCTCATGGCTCTGT	0.428000													17	342					0	0	0.006122	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107242	249107242	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.I187I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652000													11	111					0	0	0.008291	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													5	135					0	0	0.001168	0	0
CTSC	1075	broad.mit.edu	37	11	88027474	88027474	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:88027474C>T	ENST00000227266.5	-	7	1206	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	364					immune response	lysosome	cysteine-type endopeptidase activity	p.L364L(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGATGGACCAACTCAAGCT	0.458000													38	174					0	0	0.004878	0	0
C1orf173	127254	broad.mit.edu	37	1	75055428	75055428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:75055428G>T	ENST00000326665.5	-	12	2281	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S491Y	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	688	Glu-rich.							p.S688Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGTTTCCCGGACTTCTCAGA	0.458000													45	264					7.05121e-23	1.2739e-22	0.002522	1	0
C1orf173	127254	broad.mit.edu	37	1	75055641	75055641	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:75055641C>G	ENST00000326665.5	-	12	2068	c.1850G>C	c.(1849-1851)aGg>aCg	p.R617T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.R420T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.							p.R617T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAGATGACCTTCTGGCACT	0.438000													17	121					0	0	0.006122	0	0
GPR12	2835	broad.mit.edu	37	13	27333529	27333529	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:27333529G>A	ENST00000405846.3	-	2	657	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	GPR12_ENST00000381436.2_Silent_p.L146L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	146						integral to plasma membrane		p.L146L(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGTACGTCAGAGCGTAGTAC	0.577000													21	100					0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11514989	11514989	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:11514989T>C	ENST00000262442.3	+	4	864	c.796T>C	c.(796-798)Tat>Cat	p.Y266H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y266H|DNAH9_ENST00000579828.1_Missense_Mutation_p.Y266H|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	266	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y266H(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAATACATCTATAATCAACT	0.448000													25	118					0	0	0.003954	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558265	11558265	+	Silent	SNP	C	C	T	rs149732361		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:11558265C>T	ENST00000252455.2	+	11	1197	c.861C>T	c.(859-861)acC>acT	p.T287T	PRKCSH_ENST00000592741.1_Silent_p.T287T|PRKCSH_ENST00000587327.1_Silent_p.T287T|PRKCSH_ENST00000591462.1_Silent_p.T287T|PRKCSH_ENST00000589838.1_Silent_p.T287T|PRKCSH_ENST00000412601.1_Silent_p.T287T	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	287	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.T287T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CACTGCCCACCGACCTTCCAG	0.677000													5	37					0	0	0.000602	0	0
CD200R1	131450	broad.mit.edu	37	3	112648181	112648181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:112648181C>A	ENST00000471858.1	-	3	539	c.307G>T	c.(307-309)Gag>Tag	p.E103*	CD200R1_ENST00000308611.3_Nonsense_Mutation_p.E126*|CD200R1_ENST00000440122.2_Nonsense_Mutation_p.E126*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.E81*|CD200R1_ENST00000490004.1_Nonsense_Mutation_p.E103*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	103	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.E126*(4)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTATTCTCTCATCAGTACAG	0.443000													48	171					2.37804e-12	3.64632e-12	0.003610	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745860	138745860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:138745860G>T	ENST00000242351.5	-	9	2334	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S673Y|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S795Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	673	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.S673Y(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAGTTTTGGAAGCTATGTT	0.403000													34	194					3.93418e-24	7.17268e-24	0.004289	1	0
SBK1	388228	broad.mit.edu	37	16	28331646	28331646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:28331646G>T	ENST00000341901.4	+	4	1468	c.679G>T	c.(679-681)Ggg>Tgg	p.G227W		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	227	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.G227W(1)|p.G227V(1)		kidney(1)|lung(3)|ovary(1)	5						CCGCGCCGACGGGCTGGCGGT	0.731000													4	27					0.00621372	0.00721515	0.006214	1	0
RYR3	6263	broad.mit.edu	37	15	34115267	34115267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:34115267C>A	ENST00000389232.4	+	81	11136	c.11066C>A	c.(11065-11067)tCt>tAt	p.S3689Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3684Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3689					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3688Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTATGCAGTCTTGCAGGTAA	0.433000													12	70					4.3838e-07	5.73635e-07	0.001855	1	0
EMR1	2015	broad.mit.edu	37	19	6897298	6897298	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:6897298G>A	ENST00000312053.4	+	4	414	c.377G>A	c.(376-378)gGc>gAc	p.G126D	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.G126D|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.G126D	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	126	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G126D(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGAAAGCCGGGCAATTTCTCC	0.498000													6	104					0	0	0.001984	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468562	26468562	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:26468562G>A	ENST00000312541.5	+	8	1617	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E396K	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	457	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane		p.E457K(2)|p.E443K(2)		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						CCTGGACTATGAAGCTGGAGA	0.542000													23	152					0	0	0.001882	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594075	7594075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:7594075G>T	ENST00000342415.5	+	2	324	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	89					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	p.E89*(2)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TACCAAAGAAGAAGAGGTACC	0.333000													16	70					4.14922e-12	6.31357e-12	0.004007	1	0
IL7R	3575	broad.mit.edu	37	5	35876456	35876456	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:35876456C>G	ENST00000303115.3	+	8	1377	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	416					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P416P(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCACGCTGCCCCCTCCATTTT	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						28	102					0	0	0.005443	0	0
DNAH9	1770	broad.mit.edu	37	17	11520764	11520764	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:11520764T>C	ENST00000262442.3	+	5	1009	c.941T>C	c.(940-942)aTa>aCa	p.I314T	DNAH9_ENST00000454412.2_Missense_Mutation_p.I314T|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	314	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I314T(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCACCTGATACCGCTCCAG	0.587000													14	71					0	0	0.003163	0	0
PCDH15	65217	broad.mit.edu	37	10	55721653	55721653	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:55721653C>T	ENST00000373965.2	-	23	3284		c.e23-1		PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.?(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGTAATCCCtaaaataaaa	0.308000										HNSCC(58;0.16)			17	98					0	0	0.004007	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252230	30252230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:30252230C>A	ENST00000303775.5	-	4	383	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	120					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.V120L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGATTAAACACCAGAAGATCA	0.289000													26	164					4.74835e-14	7.67437e-14	0.002096	1	0
WWTR1	25937	broad.mit.edu	37	3	149374727	149374727	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:149374727C>G	ENST00000465804.1	-	3	623	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	WWTR1_ENST00000360632.3_Missense_Mutation_p.E123Q|WWTR1_ENST00000467467.1_Missense_Mutation_p.E123Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	123					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.E123Q(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGTGGCAGCTCGTCGGTCACG	0.687000			T	CAMTA1	epitheliod hemangioendothelioma								18	37					0	0	0.008871	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973836	69973836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:69973836G>T	ENST00000305231.7	+	5	1152	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	369					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R369I(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAAAGACCAGAGCTTTTATA	0.418000													32	226					7.63505e-26	1.40485e-25	0.002445	1	0
PRR23C	389152	broad.mit.edu	37	3	138762887	138762887	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:138762887G>T	ENST00000413199.1	-	1	847	c.576C>A	c.(574-576)ggC>ggA	p.G192G	PRR23C_ENST00000502927.2_Silent_p.G192G|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	192	Pro-rich.							p.G192G(2)		breast(2)|lung(7)|skin(2)	11						CTCGGATGGGGCCCTCCCGGT	0.647000													16	36					1.15088e-07	1.53965e-07	0.004007	1	0
CDH6	1004	broad.mit.edu	37	5	31305452	31305452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:31305452C>A	ENST00000265071.2	+	7	1436	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q336K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q391K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACATCTTACAAATAAGAGA	0.468000													46	119					6.48837e-15	1.06595e-14	0.002522	1	0
COBL	23242	broad.mit.edu	37	7	51096323	51096323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:51096323C>T	ENST00000395542.2	-	12	2900	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	COBL_ENST00000265136.7_Missense_Mutation_p.E824K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	824								p.E824K(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCGGCCCTCATGGTGGGCA	0.627000													17	84					0	0	0.006122	0	0
ANKH	56172	broad.mit.edu	37	5	14746065	14746065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:14746065C>A	ENST00000284268.6	-	7	1159	c.829G>T	c.(829-831)Gcg>Tcg	p.A277S	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.A79S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	277					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.A277S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCAAAATCGCCACTGCCTGC	0.567000													18	55					6.94344e-10	1.00053e-09	0.006122	1	0
OR8B8	26493	broad.mit.edu	37	11	124310713	124310713	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:124310713T>C	ENST00000328064.2	-	1	341	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGATGCTGTTCTTCTTTAA	0.423000													16	117					0	0	0.004007	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:15134401G>A	ENST00000266395.2	+	4	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(2)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000													30	97					0	0	0.004289	0	0
CASP4	837	broad.mit.edu	37	11	104825538	104825538	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:104825538A>G	ENST00000444739.2	-	2	1108	c.198T>C	c.(196-198)cgT>cgC	p.R66R	CASP4_ENST00000393150.3_Silent_p.R10R|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	66	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R66R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTCCTGCCATACGTTGCTTCT	0.358000													35	173					0	0	0.004878	0	0
FLG	2312	broad.mit.edu	37	1	152286758	152286758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:152286758C>A	ENST00000368799.1	-	3	639	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	202					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E202*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGTCTTTCACTTAGCCTC	0.328000									Ichthyosis				8	149					0.000157383	0.000189748	0.003080	1	0
FAM135B	51059	broad.mit.edu	37	8	139380193	139380193	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:139380193C>T	ENST00000395297.1	-	2	204	c.34G>A	c.(34-36)Gta>Ata	p.V12I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	12								p.V12I(2)|p.V12L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTAGCTCTACCGAAAACTCA	0.368000										HNSCC(54;0.14)			7	221					0	0	0.001984	0	0
WDR6	11180	broad.mit.edu	37	3	49050698	49050698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:49050698C>G	ENST00000395474.3	+	2	2101	c.1821C>G	c.(1819-1821)tgC>tgG	p.C607W	WDR6_ENST00000448293.1_Missense_Mutation_p.C526W|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	577					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.C577W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGTCACATGCCATGGTGGCT	0.577000													17	62					0	0	0.008871	0	0
MATN1	4146	broad.mit.edu	37	1	31194492	31194492	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:31194492G>T	ENST00000373765.4	-	2	236	c.201C>A	c.(199-201)gtC>gtA	p.V67V	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	67	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.V67V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACTCGATGACCTGGGACA	0.597000													35	170					1.30293e-26	2.41224e-26	0.003271	1	0
PDE10A	10846	broad.mit.edu	37	6	165827162	165827162	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:165827162A>T	ENST00000366882.1	-	14	1229	c.1075T>A	c.(1075-1077)Tac>Aac	p.Y359N	PDE10A_ENST00000539869.2_Missense_Mutation_p.Y369N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y359N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	359	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Y359N(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAGCCTGTGTACAAGTCTACT	0.483000													8	44					0	0	0.004482	0	0
ZNF479	90827	broad.mit.edu	37	7	57188826	57188826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:57188826G>T	ENST00000331162.4	-	5	566	c.296C>A	c.(295-297)cCa>cAa	p.P99Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P99Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCCCTGCTCTGGCTGAAGGTC	0.363000													21	138					5.45727e-16	9.19281e-16	0.008361	1	0
STOX1	219736	broad.mit.edu	37	10	70645915	70645915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:70645915G>T	ENST00000298596.6	+	3	2446	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R788M|STOX1_ENST00000421961.2_Missense_Mutation_p.R678M	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	788						cytoplasm|nucleolus	DNA binding	p.R788M(2)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACAATGGAGAGGGTTGAGTCT	0.458000													14	101					3.27435e-08	4.44005e-08	0.002450	1	0
RALGPS1	9649	broad.mit.edu	37	9	129957388	129957388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:129957388G>T	ENST00000259351.5	+	12	1196	c.929G>T	c.(928-930)gGt>gTt	p.G310V	RALGPS1_ENST00000424082.2_Missense_Mutation_p.G310V|RALGPS1_ENST00000373434.1_Missense_Mutation_p.G310V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	310					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G310V(4)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTGGCTCCGGTTCTGCGAGG	0.622000													32	187					7.11191e-15	1.16518e-14	0.002836	1	0
PARD3B	117583	broad.mit.edu	37	2	205978257	205978257	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:205978257A>T	ENST00000406610.2	+	6	843	c.636A>T	c.(634-636)ccA>ccT	p.P212P	PARD3B_ENST00000358768.2_Silent_p.P212P|PARD3B_ENST00000349953.3_Silent_p.P212P|PARD3B_ENST00000462231.1_Silent_p.P212P|PARD3B_ENST00000351153.1_Silent_p.P212P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	212	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.P212P(4)|p.P213P(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGAGGCCCATTGGGAATAC	0.433000													15	70					0	0	0.003163	0	0
DDX49	54555	broad.mit.edu	37	19	19033223	19033223	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:19033223G>A	ENST00000438170.2	+	6	627	c.215G>A	c.(214-216)cGc>cAc	p.R72H	DDX49_ENST00000247003.4_Missense_Mutation_p.R179H|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_3'UTR			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	179	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.R179H(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GTGCCGGCCCGCAGGCAGACA	0.667000													7	16					0	0	0.003080	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182108	2182108	+	Missense_Mutation	SNP	C	C	G	rs80356664		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:2182108C>G	ENST00000397270.1	-	2	152	c.94G>C	c.(94-96)Ggc>Cgc	p.G32R	INS_ENST00000512523.1_Missense_Mutation_p.G32R|INS_ENST00000397262.1_Missense_Mutation_p.G32R|INS_ENST00000250971.3_Missense_Mutation_p.G32R|INS_ENST00000381330.4_Missense_Mutation_p.G32R	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		32					glucose metabolic process	extracellular region	hormone activity	p.G32R(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AGGTGTGAGCCGCACAGGTGT	0.652000													13	64					0	0	0.001855	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758166	25758166	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:25758166C>G	ENST00000586223.1	+	0	2600					NR_033892.1																						ctgcactgagccacaatatgg	0.592000													5	13					0	0	0.000602	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497613	1497613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:1497613C>A	ENST00000421627.2	+	2	888	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	331					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.Q274K(2)|p.Q296K(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACGCGCTGCAGAGCCCCTT	0.667000													28	121					7.01153e-11	1.04042e-10	0.007291	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976742	47976742	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:47976742G>A	ENST00000543600.1	-	2	523	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	PTCHD4_ENST00000339488.4_Missense_Mutation_p.L179F			Q6ZW05	CF138_HUMAN	patched domain containing 4	179						integral to membrane	hedgehog receptor activity	p.L179F(3)									TAGGTCTGGAGGTAGTAGGTG	0.502000													10	52					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113988108	113988108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:113988108G>T	ENST00000297405.5	-	7	1544	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q434K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q394K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	434						integral to membrane|plasma membrane		p.Q434K(2)|p.Q394K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTCTATCTGTTCAGCATGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	292					1.06647e-15	1.78642e-15	0.003755	1	0
AOC3	8639	broad.mit.edu	37	17	41003966	41003966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:41003966G>T	ENST00000308423.2	+	1	766	c.606G>T	c.(604-606)aaG>aaT	p.K202N		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	202					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.K202N(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCTTCTACAAGCACCGGGGAC	0.592000													13	79					7.03913e-09	9.7893e-09	0.001368	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587735	40587735	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:40587735G>A	ENST00000450241.2	-	5	432	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R76W|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R76W|ZNF780A_ENST00000414720.2_Missense_Mutation_p.R91W|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R75W|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R75W			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R76W(1)|p.R41W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCTGGATACCGTCTGCTTGTT	0.438000													14	118					0	0	0.007413	0	0
KCNK9	51305	broad.mit.edu	37	8	140715079	140715079	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:140715079T>C	ENST00000520439.1	-	1	220	c.157A>G	c.(157-159)Aac>Gac	p.N53D	KCNK9_ENST00000303015.1_Missense_Mutation_p.N53D			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	53						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.N53D(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CTGCTGATGTTGTACTTCCCC	0.632000													8	62					0	0	0.008291	0	0
ERBB2	2064	broad.mit.edu	37	17	37864639	37864639	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:37864639G>A	ENST00000406381.2	+	5	711	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ERBB2_ENST00000578199.1_Silent_p.Q67Q|ERBB2_ENST00000540147.1_Silent_p.Q67Q|ERBB2_ENST00000269571.5_Silent_p.Q97Q|ERBB2_ENST00000540042.1_Silent_p.Q67Q|ERBB2_ENST00000541774.1_Silent_p.Q82Q|ERBB2_ENST00000584450.1_Silent_p.Q97Q|ERBB2_ENST00000584601.1_Silent_p.Q67Q|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	97					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.Q97Q(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCCACTGCAGAGGCTGCGGA	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			22	157					0	0	0.001882	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967412	106967412	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:106967412C>G	ENST00000390622.2	-	0	350																											ATCCCTTCCTCAGCCCTGGAA	0.557000													4	175					0	0	0.000248	0	0
RALYL	138046	broad.mit.edu	37	8	85774568	85774568	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:85774568C>G	ENST00000521268.1	+	6	1556	c.451C>G	c.(451-453)Cgt>Ggt	p.R151G	RALYL_ENST00000522455.1_Missense_Mutation_p.R151G|RALYL_ENST00000517638.1_Missense_Mutation_p.R164G|RALYL_ENST00000518566.1_Missense_Mutation_p.R140G|RALYL_ENST00000521695.1_Missense_Mutation_p.R151G|RALYL_ENST00000523850.1_Missense_Mutation_p.R78G|RALYL_ENST00000521376.1_Missense_Mutation_p.R62G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							identical protein binding|nucleotide binding|RNA binding	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502000													11	36					0	0	0.000978	0	0
FAM27L	284123	broad.mit.edu	37	17	21825370	21825370	+	RNA	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:21825370C>T	ENST00000426869.3	+	0	74					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		aaaccactccctgaggcttcg	0.617000													8	12					0	0	0.006214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741088	146741088	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:146741088G>T	ENST00000361727.3	+	4	1008	c.492G>T	c.(490-492)ctG>ctT	p.L164L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	164	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L164L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGTGCCTCTGGATTGGAATG	0.443000										HNSCC(39;0.1)			21	197					5.45024e-15	8.97863e-15	0.003330	1	0
SLC6A5	9152	broad.mit.edu	37	11	20623178	20623178	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:20623178G>T	ENST00000525748.1	+	2	780	c.507G>T	c.(505-507)gtG>gtT	p.V169V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V169V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCACGTCCGTGCTCCCGGGCA	0.657000													6	52					8.12818e-05	9.93999e-05	0.001984	1	0
SGCA	6442	broad.mit.edu	37	17	48245036	48245036	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:48245036A>T	ENST00000262018.3	+	3	287	c.251A>T	c.(250-252)cAc>cTc	p.H84L	SGCA_ENST00000344627.6_Missense_Mutation_p.H84L|SGCA_ENST00000543315.1_Missense_Mutation_p.H84L|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	84					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.H84L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGCAGCCCCCACCACCCTGGC	0.667000													15	69					0	0	0.004990	0	0
C1orf226	400793	broad.mit.edu	37	1	162353098	162353098	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:162353098G>A	ENST00000458626.2	+	2	616	c.444G>A	c.(442-444)ctG>ctA	p.L148L	C1orf226_ENST00000426197.2_Silent_p.L191L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	148								p.L191L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCAGCAGTCTGGAGTATGGGA	0.622000													8	33					0	0	0.004482	0	0
WDPCP	51057	broad.mit.edu	37	2	63349192	63349192	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:63349192C>A	ENST00000409120.1	-	12	5165		c.e12-1		WDPCP_ENST00000409199.1_Splice_Site|WDPCP_ENST00000398544.3_Splice_Site|WDPCP_ENST00000272321.7_Splice_Site			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector						cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCTGATTTCCTGCAAATAAA	0.269000													16	107					1.02788e-11	1.55614e-11	0.004990	1	0
MARCH3	115123	broad.mit.edu	37	5	126253786	126253786	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:126253786C>G	ENST00000308660.5	-	2	592	c.78G>C	c.(76-78)acG>acC	p.T26T	MARCH3_ENST00000515241.1_Silent_p.T26T|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	26					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	p.T26T(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AATCCTCCACCGTCTTCACCA	0.572000													5	45					0	0	0.001984	0	0
POT1	25913	broad.mit.edu	37	7	124475408	124475408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:124475408C>G	ENST00000357628.3	-	15	2028	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	POT1_ENST00000393329.1_Missense_Mutation_p.R346T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353000													26	169					0	0	0.007291	0	0
GLP2R	9340	broad.mit.edu	37	17	9792900	9792900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:9792900G>T	ENST00000262441.5	+	13	2053	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	GLP2R_ENST00000574745.1_Missense_Mutation_p.G334C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	514					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G514C(3)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGGGGAGCTGGGCGCCCAGCC	0.637000													14	47					4.3838e-07	5.73635e-07	0.001855	1	0
NRXN1	9378	broad.mit.edu	37	2	50765774	50765774	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:50765774C>A	ENST00000404971.1	-	11	3219	c.1879_splice	c.e11-1	p.G627_splice	NRXN1_ENST00000405472.3_Splice_Site_p.G579_splice|NRXN1_ENST00000401669.2_Splice_Site_p.G587_splice|NRXN1_ENST00000406859.3_Splice_Site_p.G587_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G587_splice|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Splice_Site_p.G579_splice	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	587	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.?(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGAAATGGTACCTATTTCAAA	0.463000													11	81					0.000673444	0.000800635	0.008291	1	0
CCDC28A	25901	broad.mit.edu	37	6	139106400	139106400	+	Missense_Mutation	SNP	G	G	A	rs143442772		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:139106400G>A	ENST00000332797.6	+	4	784	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	210								p.R210Q(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAACATGTTCGGGGAATGCAG	0.403000													27	143					0	0	0.005443	0	0
PAX7	5081	broad.mit.edu	37	1	18960982	18960982	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:18960982C>G	ENST00000420770.2	+	2	354	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	PAX7_ENST00000375375.3_Missense_Mutation_p.Q91E|PAX7_ENST00000400661.3_Missense_Mutation_p.Q91E	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	91	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q91E(4)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TTGCCGCTACCAGGAGACCGG	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								9	67					0	0	0.001368	0	0
DYDC2	84332	broad.mit.edu	37	10	82122230	82122230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:82122230G>T	ENST00000372199.1	+	4	629	c.31G>T	c.(31-33)Gga>Tga	p.G11*	DYDC2_ENST00000256039.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000444807.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000372197.1_Nonsense_Mutation_p.G11*|DYDC2_ENST00000372198.1_Nonsense_Mutation_p.G25*			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	11							protein binding	p.G11*(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAGGTGCTTTGGAAATTGCCT	0.443000													23	95					7.41877e-09	1.02704e-08	0.001882	1	0
LTBP2	4053	broad.mit.edu	37	14	75052556	75052556	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:75052556C>A	ENST00000261978.4	-	3	1217		c.e3+1		LTBP2_ENST00000556690.1_Splice_Site|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGGGACTTACCCAGCTGGTG	0.647000													16	58					3.41278e-10	5.02671e-10	0.004990	1	0
CYP4F2	8529	broad.mit.edu	37	19	16003139	16003139	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:16003139C>G	ENST00000221700.5	-	5	600	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	CYP4F2_ENST00000592328.1_Missense_Mutation_p.E169Q|CYP4F2_ENST00000011989.7_Missense_Mutation_p.E20Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	169				E -> D (in Ref. 7; AAH67440).	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.E169Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACACTCTCATTGAAAATC	0.507000													25	171					0	0	0.005443	0	0
CSMD3	114788	broad.mit.edu	37	8	113304844	113304844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:113304844C>G	ENST00000297405.5	-	55	8954	c.8710G>C	c.(8710-8712)Ggg>Cgg	p.G2904R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2735R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2834R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2864R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2904	Sushi 19.					integral to membrane|plasma membrane		p.G2904R(2)|p.G2864R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAGATACCCAATATTGCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	242					0	0	0.002299	0	0
FAT3	120114	broad.mit.edu	37	11	92531802	92531802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:92531802G>A	ENST00000298047.6	+	9	5640	c.5623G>A	c.(5623-5625)Gat>Aat	p.D1875N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1875N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1725N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1875	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D1875N(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGTGACAGATGTGAATGA	0.453000										TCGA Ovarian(4;0.039)			8	60					0	0	0.003080	0	0
CELSR2	1952	broad.mit.edu	37	1	109806746	109806746	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:109806746A>G	ENST00000271332.3	+	10	5109	c.5048A>G	c.(5047-5049)cAg>cGg	p.Q1683R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1683	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACAGGGCTTCAGGCCTCCTCT	0.632000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	97					0	0	0.000602	0	0
PRMT1	3276	broad.mit.edu	37	19	50188237	50188237	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:50188237G>A	ENST00000532489.1	+	8	1070	c.564G>A	c.(562-564)gaG>gaA	p.E188E	PRMT1_ENST00000391851.4_Silent_p.E216E|PRMT1_ENST00000454376.2_Silent_p.E234E			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	215						cytoplasm	protein methyltransferase activity	p.E210E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCATTAAGGAGCCCCTAGTGG	0.612000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	68					0	0	0.004990	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504896	95504896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:95504896T>C	ENST00000297591.5	-	21	4867	c.4792A>G	c.(4792-4794)Acc>Gcc	p.T1598A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1598					mRNA processing|RNA splicing	nucleus		p.T1598A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTATAAAGGTCTCATGCTTG	0.368000													29	206					0	0	0.008361	0	0
PACSIN3	29763	broad.mit.edu	37	11	47204070	47204070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:47204070C>A	ENST00000539589.1	-	4	437	c.95G>T	c.(94-96)gGg>gTg	p.G32V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G32V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	32	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.G32V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAGCCGGTGCCCGTCCTCCAC	0.652000													16	121					2.48551e-13	3.92172e-13	0.004990	1	0
POTEA	340441	broad.mit.edu	37	8	43157198	43157198	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:43157198C>G	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.Q260E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTATTTTCTCAAGATGTATT	0.318000													11	98					0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10428361	10428361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10428361C>A	ENST00000245503.5	-	34	5068	c.4684G>T	c.(4684-4686)Gga>Tga	p.G1562*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.G1562*|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1562					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1562*(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGATCTTTCCCTCTTCATGT	0.403000													27	160					2.09667e-21	3.73157e-21	0.003755	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735071	37735071	+	Splice_Site	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:37735071T>G	ENST00000330843.4	-	2	384		c.e2-2		RAB11FIP1_ENST00000524118.1_5'UTR|RAB11FIP1_ENST00000287263.4_Splice_Site|RAB11FIP1_ENST00000522727.1_Splice_Site	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)						protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTATACCACCTGAAAGGAGAA	0.463000													14	76					0	0	0.003163	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													3	23					0	0	0.004672	0	0
ERCC5	2073	broad.mit.edu	37	13	103520504	103520504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:103520504G>T	ENST00000355739.4	+	12	3998	c.2575G>T	c.(2575-2577)Gga>Tga	p.G859*	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.W1284L|ERCC5_ENST00000375954.1_Nonsense_Mutation_p.G92*	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTATTTGCTTGGAAGTGATTA	0.343000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	152					0.00448238	0.00522508	0.004482	1	0
ANO6	196527	broad.mit.edu	37	12	45782068	45782068	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:45782068G>A	ENST00000320560.8	+	11	1492	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	ANO6_ENST00000441606.2_Silent_p.V412V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.V451V|ANO6_ENST00000435642.1_Silent_p.V430V|ANO6_ENST00000425752.2_Silent_p.V430V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	430					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.V430V(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCACGTAGTGATAAATGAGA	0.463000													46	165					0	0	0.003610	0	0
TMEM86A	144110	broad.mit.edu	37	11	18722551	18722551	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:18722551C>A	ENST00000280734.2	+	2	189	c.93C>A	c.(91-93)ccC>ccA	p.P31P	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	31						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTGGCTGCCCTCATCTAGCC	0.587000													6	448					2.0095e-06	2.56769e-06	0.001984	1	0
TDRD5	163589	broad.mit.edu	37	1	179621246	179621246	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:179621246G>A	ENST00000444136.1	+	13	2324	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E692K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E692K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	692					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E692K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTCTTGACAGAACTGGGTTA	0.413000													20	121					0	0	0.001882	0	0
C4orf17	84103	broad.mit.edu	37	4	100451036	100451036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:100451036C>A	ENST00000514652.1	+	5	821	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	C4orf17_ENST00000326581.4_Missense_Mutation_p.S156Y|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	156								p.S156Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GGCTCCTGTTCTTCAGGGATG	0.368000													11	104					9.70103e-10	1.39118e-09	0.008291	1	0
RSBN1	54665	broad.mit.edu	37	1	114310969	114310969	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:114310969G>A	ENST00000261441.5	-	5	1764	c.1701C>T	c.(1699-1701)acC>acT	p.T567T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	567						nucleus		p.T567T(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTCACTGGTCCGAGGTA	0.433000													11	92					0	0	0.008291	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384244	236384244	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:236384244G>A	ENST00000354619.5	-	15	1432	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	411					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.L411L(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AATATCTTCAGGGCAGTTCCT	0.323000													8	79					0	0	0.003080	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:140562928C>G	ENST00000361016.2	+	1	1949	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000													23	150					0	0	0.002299	0	0
P2RY8	286530	broad.mit.edu	37	X	1584949	1584949	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:1584949T>C	ENST00000381297.4	-	2	713	c.503A>G	c.(502-504)cAc>cGc	p.H168R		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	168						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.H168R(1)		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)				GCCCAGGGCGTGCACCGGGTA	0.672000			T	CRLF2	"""B-ALL, Downs associated ALL"""								6	62					0	0	0.001168	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324130	61324130	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:61324130G>A	ENST00000283752.5	-	7	846	c.703C>T	c.(703-705)Cca>Tca	p.P235S	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	235					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P235S(2)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTTTGTATGGTATTTCCAGG	0.408000													11	179					0	0	0.001368	0	0
CHD9	80205	broad.mit.edu	37	16	53330938	53330938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:53330938A>T	ENST00000566029.1	+	30	5790	c.5581A>T	c.(5581-5583)Aga>Tga	p.R1861*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1861*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R1861*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACCCTGACAGAGGCCAATT	0.358000													39	122					0	0	0.002522	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165312	161165312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:161165312C>A	ENST00000367996.4	-	4	1632	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	402	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.E402*(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCAGGGCTCCTCAGGATCC	0.547000													36	291					9.8876e-21	1.73395e-20	0.004878	1	0
MARK1	4139	broad.mit.edu	37	1	220825386	220825386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:220825386G>T	ENST00000402574.1	+	15	2227	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	MARK1_ENST00000366918.4_Missense_Mutation_p.V522F|MARK1_ENST00000366917.4_Missense_Mutation_p.V544F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	544					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V544F(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCCTCTGCTGTCCCCTCAGC	0.498000													17	147					1.67942e-08	2.29815e-08	0.006122	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587733	40587733	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:40587733C>A	ENST00000450241.2	-	5	434	c.123G>T	c.(121-123)cgG>cgT	p.R41R	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.R76R|ZNF780A_ENST00000455521.1_Silent_p.R76R|ZNF780A_ENST00000414720.2_Silent_p.R91R|ZNF780A_ENST00000595687.2_Silent_p.R75R|ZNF780A_ENST00000340963.5_Silent_p.R75R			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACCTGGATACCGTCTGCTTG	0.448000													15	115					2.39187e-15	3.96216e-15	0.008871	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156695	55156695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:55156695G>T	ENST00000257290.5	+	22	3427	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E792D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1032					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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	p.E1032D(2)		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)	CTGAGGAGGAGGACCTGGGCA	0.587000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	168					1.42536e-11	2.15243e-11	0.004656	1	0
SLC6A15	55117	broad.mit.edu	37	12	85279239	85279239	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:85279239A>T	ENST00000450363.3	-	4	1007	c.549T>A	c.(547-549)ccT>ccA	p.P183P	SLC6A15_ENST00000552192.1_Silent_p.P76P|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Silent_p.P183P	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	183					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P183P(4)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCACCAAAGGACACTGAT	0.368000													32	87					0	0	0.001786	0	0
NRXN1	9378	broad.mit.edu	37	2	50765775	50765775	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:50765775C>A	ENST00000404971.1	-	11	3219		c.e11-1		NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.?(6)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAATGGTACCTATTTCAAAG	0.468000													11	79					0.000673444	0.000800635	0.008291	1	0
ARGLU1	55082	broad.mit.edu	37	13	107211830	107211830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:107211830C>T	ENST00000400198.3	-	2	767	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ARGLU1_ENST00000375926.1_Silent_p.K24K	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	175	Glu-rich.							p.E175K(2)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGCTCGAGTTCTTCGAGCAAC	0.488000													24	139					0	0	0.003330	0	0
TICRR	90381	broad.mit.edu	37	15	90128938	90128938	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:90128938G>T	ENST00000268138.7	+	4	1281		c.e4-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator									p.?(2)									TTCTCACGTAGGTTGCTGATG	0.448000													9	64					7.48243e-07	9.74835e-07	0.006214	1	0
APMAP	57136	broad.mit.edu	37	20	24964571	24964571	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:24964571C>A	ENST00000217456.2	-	2	470	c.180G>T	c.(178-180)ctG>ctT	p.L60L	APMAP_ENST00000447138.1_Silent_p.L60L	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein									p.L60L(2)									GAGATTCCAGCAGCATCATGG	0.502000													33	151					5.09552e-08	6.89394e-08	0.002096	1	0
OMD	4958	broad.mit.edu	37	9	95179363	95179363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:95179363G>T	ENST00000375550.4	-	2	753	c.478C>A	c.(478-480)Ctt>Att	p.L160I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	160					cell adhesion	proteinaceous extracellular matrix		p.L160I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GATTTAGGAAGAGGAAATGGA	0.348000			T	USP6	aneurysmal bone cysts								28	147					1.77063e-15	2.95765e-15	0.005443	1	0
RGPD3	653489	broad.mit.edu	37	2	107041047	107041047	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:107041047A>T	ENST00000409886.3	-	20	3463	c.3376T>A	c.(3376-3378)Tca>Aca	p.S1126T	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1126	RanBD1 1.				intracellular transport		binding	p.S1126T(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTCTATCTGATCCAGAGAGG	0.433000													38	480					0	0	0.002852	0	0
CD1E	913	broad.mit.edu	37	1	158325684	158325684	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158325684T>C	ENST00000444681.2	+	3	689	c.396T>C	c.(394-396)caT>caC	p.H132H	CD1E_ENST00000368167.3_Silent_p.H231H|CD1E_ENST00000368164.3_Silent_p.H42H|CD1E_ENST00000368160.3_Silent_p.H231H|CD1E_ENST00000368161.3_Silent_p.H231H|CD1E_ENST00000368165.3_Silent_p.H141H|CD1E_ENST00000368154.1_Silent_p.H42H|CD1E_ENST00000368155.3_Silent_p.H141H|CD1E_ENST00000434258.1_Silent_p.H229H|CD1E_ENST00000368157.1_Silent_p.H42H|CD1E_ENST00000452291.2_Silent_p.H42H|CD1E_ENST00000368166.3_Silent_p.H42H|CD1E_ENST00000368156.1_Silent_p.H141H|CD1E_ENST00000368163.3_Silent_p.H231H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	231					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.H231H(2)		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)					TTGTGTGCCATGTCTCAGGAT	0.582000													48	112					0	0	0.003610	0	0
MS4A6E	245802	broad.mit.edu	37	11	60102398	60102398	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:60102398C>G	ENST00000300182.4	+	1	95	c.30C>G	c.(28-30)acC>acG	p.T10T		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	10			T -> A (in dbSNP:rs2304934).			integral to membrane	receptor activity	p.T10T(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CCAATGAGACCATCATAATGC	0.443000													26	158					0	0	0.004656	0	0
CHD4	1108	broad.mit.edu	37	12	6697022	6697022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:6697022C>G	ENST00000309577.6	-	24	3722	c.3559G>C	c.(3559-3561)Gtg>Ctg	p.V1187L	CHD4_ENST00000357008.2_Missense_Mutation_p.V1187L|CHD4_ENST00000544484.1_Missense_Mutation_p.V1184L|CHD4_ENST00000544040.1_Missense_Mutation_p.V1180L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1187	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V1187L(4)		central_nervous_system(2)	2						TTCTTTGCCACCTGCGTGATG	0.517000													12	193					0	0	0.000978	0	0
OR4P4	81300	broad.mit.edu	37	11	55405957	55405957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:55405957C>G	ENST00000314612.2	+	1	124	c.124C>G	c.(124-126)Ctc>Gtc	p.L42V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L42V(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGGAAACTTACTCATAATGAT	0.383000													39	88					0	0	0.004878	0	0
THADA	63892	broad.mit.edu	37	2	43801863	43801863	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:43801863C>T	ENST00000403856.1	-	12	1488	c.1341G>A	c.(1339-1341)ttG>ttA	p.L447L	THADA_ENST00000415080.2_Silent_p.L157L|THADA_ENST00000405975.2_Silent_p.L447L|THADA_ENST00000405006.4_Silent_p.L447L|THADA_ENST00000402360.2_Silent_p.L447L|THADA_ENST00000330266.7_Silent_p.L157L|THADA_ENST00000404790.1_Silent_p.L447L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	447							binding	p.L447L(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATGCCATTCCAATCGTAAAA	0.403000													23	123					0	0	0.002780	0	0
OVCH1	341350	broad.mit.edu	37	12	29598250	29598250	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:29598250C>T	ENST00000318184.5	-	23	2841	c.2842G>A	c.(2842-2844)Ggt>Agt	p.G948S	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	948	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G948S(3)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAAATGCACCTCGTACAAGG	0.373000													32	101					0	0	0.002836	0	0
FAM124B	79843	broad.mit.edu	37	2	225266018	225266018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:225266018G>T	ENST00000389874.3	-	1	693	c.468C>A	c.(466-468)taC>taA	p.Y156*	FAM124B_ENST00000409685.3_Nonsense_Mutation_p.Y156*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Y156*	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	156							protein binding	p.Y156*(4)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGATCATCTCGTAGAGTCTGA	0.522000													16	132					6.94344e-10	1.00053e-09	0.006122	1	0
GLI2	2736	broad.mit.edu	37	2	121726405	121726405	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:121726405C>G	ENST00000452319.1	+	6	819	c.759C>G	c.(757-759)ccC>ccG	p.P253P	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.P253P|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	253					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P253P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCTCACCCAACTCGCTAG	0.687000													19	135					0	0	0.007413	0	0
BCHE	590	broad.mit.edu	37	3	165548428	165548428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:165548428G>T	ENST00000264381.3	-	2	560	c.394C>A	c.(394-396)Cca>Aca	p.P132T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	132					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.P132T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GCATTTTTTGGTTTAGGTGCT	0.398000													38	141					1.36161e-19	2.37389e-19	0.004289	1	0
C9orf64	84267	broad.mit.edu	37	9	86559772	86559772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:86559772G>A	ENST00000376344.3	-	3	946	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.Q103*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	244								p.Q244*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAAGAACCTGAGGTAATCTA	0.403000													27	109					0	0	0.006320	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784480	27784480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:27784480G>T	ENST00000261588.4	+	23	4278	c.4259G>T	c.(4258-4260)gGc>gTc	p.G1420V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1420								p.G1420V(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCCTCACCGGCCTGGAGCTG	0.498000													14	36					1.3612e-06	1.75054e-06	0.003163	1	0
C10orf90	118611	broad.mit.edu	37	10	128118409	128118409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:128118409G>C	ENST00000284694.7	-	7	2028	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	C10orf90_ENST00000544758.1_Missense_Mutation_p.F733L|C10orf90_ENST00000356858.3_Missense_Mutation_p.F589L|C10orf90_ENST00000454341.1_Missense_Mutation_p.F539L|C10orf90_ENST00000480379.1_Missense_Mutation_p.F40L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	636								p.F636L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTTGGGTTTGAACAAGTTAT	0.378000													18	106					0	0	0.001523	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667825	60667825	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:60667825C>A	ENST00000400324.4	-	4	652	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DIAPH3_ENST00000400319.1_Silent_p.R74R|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400330.1_Silent_p.R144R|DIAPH3_ENST00000377908.2_Silent_p.R133R|DIAPH3_ENST00000267215.4_Silent_p.R144R	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTCCTTTTCCCGCAATGGTG	0.333000													6	73					8.12818e-05	9.93999e-05	0.001984	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597000													28	123					0	0	0.005443	0	0
GFRAL	389400	broad.mit.edu	37	6	55223728	55223728	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:55223728G>A	ENST00000340465.2	+	6	830	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	248						integral to membrane	receptor activity	p.V248V(2)		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)			GGCAGCGTGTGACTAGAAAGT	0.373000													21	182					0	0	0.002780	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825920	146825920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:146825920T>G	ENST00000361727.3	+	7	1591	c.1075T>G	c.(1075-1077)Tca>Gca	p.S359A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	359	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S359A(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTAGAGCCCTCAAATGTGGT	0.358000										HNSCC(39;0.1)			24	195					0	0	0.003954	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123471	108123471	+	Splice_Site	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:108123471G>C	ENST00000374720.3	+	8	1007		c.e8-1		SLC44A1_ENST00000343170.7_Splice_Site|SLC44A1_ENST00000374723.1_Splice_Site|SLC44A1_ENST00000374724.1_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1							integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.?(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGTCTCCAGGAGGCACAGG	0.408000													17	124					0	0	0.004007	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013262	183013262	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:183013262T>A	ENST00000328913.3	-	13	1798	c.1501A>T	c.(1501-1503)Aaa>Taa	p.K501*	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.K501*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K501*(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCTGGGCTTTGGCCTACAGT	0.488000													35	101					0	0	0.006999	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													5	20					0	0	0.001168	0	0
KCNT2	343450	broad.mit.edu	37	1	196395118	196395118	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:196395118C>A	ENST00000367433.5	-	11	1086	c.984_splice	c.e11-1	p.D329_splice	KCNT2_ENST00000294725.8_Splice_Site_p.D329_splice|KCNT2_ENST00000367431.4_Splice_Site_p.D329_splice|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	329						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D329Y(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATAATAATCCTATTCAAAA	0.318000													35	80					4.11147e-13	6.47016e-13	0.003755	1	0
OSBPL10	114884	broad.mit.edu	37	3	31871586	31871586	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:31871586T>A	ENST00000396556.2	-	4	797	c.675A>T	c.(673-675)gcA>gcT	p.A225A	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	225					lipid transport		lipid binding	p.A225A(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTCGGGCGGCTGCAGGCGACT	0.587000													11	66					0	0	0.000978	0	0
MYOM3	127294	broad.mit.edu	37	1	24433662	24433662	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:24433662C>T	ENST00000330966.7	-	4	468	c.306G>A	c.(304-306)cgG>cgA	p.R102R	MYOM3_ENST00000374434.3_Silent_p.R101R|MYOM3_ENST00000329601.7_Silent_p.R101R|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	101								p.R101R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGAAGCCCACCCGCTTCTGCC	0.687000													3	17					0	0	0.000602	0	0
GHDC	84514	broad.mit.edu	37	17	40344425	40344425	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:40344425C>T	ENST00000301671.8	-	4	1164	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GHDC_ENST00000414034.3_Silent_p.R241R|GHDC_ENST00000593209.1_Silent_p.R241R|GHDC_ENST00000436923.2_Silent_p.R241R|GHDC_ENST00000428494.2_Silent_p.R202R|GHDC_ENST00000587427.1_Silent_p.R241R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	241						endoplasmic reticulum|nuclear envelope		p.R241R(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTAGGGCCTCCCGGAGCTCAG	0.657000													19	164					0	0	0.007413	0	0
NLRP2	55655	broad.mit.edu	37	19	55508760	55508760	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:55508760C>T	ENST00000543010.1	+	12	3098	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	NLRP2_ENST00000339757.7_Silent_p.V963V|NLRP2_ENST00000538819.1_Silent_p.V961V|NLRP2_ENST00000427260.2_Silent_p.V962V|NLRP2_ENST00000537859.1_Silent_p.V963V|NLRP2_ENST00000448584.2_Silent_p.V985V|NLRP2_ENST00000263437.6_Silent_p.V982V|NLRP2_ENST00000391721.4_Silent_p.V961V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	985					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V985V(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGCCTCGTCACTCTGGACC	0.542000													46	184					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	66					3.52763e-06	4.4411e-06	0.004990	1	0
TBC1D1	23216	broad.mit.edu	37	4	38097636	38097636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:38097636G>T	ENST00000261439.4	+	14	2678	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.E869*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	775						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TACAGTGTGGGAAAAGATGCT	0.413000													27	213					6.32553e-13	9.87642e-13	0.004656	1	0
IL1F10	84639	broad.mit.edu	37	2	113832364	113832364	+	Silent	SNP	C	C	T	rs34320972	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:113832364C>T	ENST00000393197.2	+	3	604	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_ENST00000341010.2_Silent_p.I61I|IL1F10_ENST00000337569.3_Silent_p.I61I	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	61						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I61I(2)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582000													10	180					0	0	0.000978	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:150840204C>G	ENST00000370357.4	+	13	1635	c.1390C>G	c.(1390-1392)Ctc>Gtc	p.L464V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	464						nucleus	signal transducer activity	p.L464V(4)|p.L464F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000													22	50					0	0	0.001882	0	0
CGNL1	84952	broad.mit.edu	37	15	57731244	57731244	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:57731244A>G	ENST00000281282.5	+	2	1125	c.1047A>G	c.(1045-1047)tcA>tcG	p.S349S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	349	Head.					myosin complex|tight junction	motor activity	p.S349S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATACAGGATCAATTCCTGGTG	0.428000													14	68					0	0	0.002450	0	0
TLN2	83660	broad.mit.edu	37	15	62993362	62993362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:62993362C>G	ENST00000561311.1	+	16	1875	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q549E			Q9Y4G6	TLN2_HUMAN	talin 2	549					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.Q549E(2)		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						AATCCATTCTCAAGTTGATGC	0.473000													23	80					0	0	0.002780	0	0
AMOT	154796	broad.mit.edu	37	X	112024171	112024171	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:112024171T>A	ENST00000371959.3	-	9	2415	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S	AMOT_ENST00000371962.1_Missense_Mutation_p.T574S|AMOT_ENST00000524145.1_Missense_Mutation_p.T806S|AMOT_ENST00000304758.1_Missense_Mutation_p.T397S|AMOT_ENST00000371958.1_Missense_Mutation_p.T574S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	806					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T806S(2)|p.T397S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGGGAGCCAGTCAGGGTGGAT	0.522000													64	142					0	0	0.003610	0	0
GFPT1	2673	broad.mit.edu	37	2	69556903	69556903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:69556903C>A	ENST00000357308.4	-	16	1688	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	GFPT1_ENST00000361060.4_Missense_Mutation_p.V486L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	504	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.V486L(2)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCAAACATCACAAGGGATACA	0.398000													20	126					2.27731e-05	2.83125e-05	0.001882	1	0
ASXL3	80816	broad.mit.edu	37	18	31319721	31319721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:31319721G>T	ENST00000269197.5	+	11	2353	c.2353G>T	c.(2353-2355)Gag>Tag	p.E785*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	785	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.E785*(1)|p.E492*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGAAAGATGAGTCTTCCGC	0.458000													8	49					7.93312e-07	1.02907e-06	0.002450	1	0
SLC12A2	6558	broad.mit.edu	37	5	127516628	127516628	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:127516628T>A	ENST00000262461.2	+	23	3343	c.3154T>A	c.(3154-3156)Tgt>Agt	p.C1052S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.C1036S|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1052					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.C1052S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAAAGACTGTAAGATCAG	0.328000													60	148					0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124345614	124345614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:124345614G>C	ENST00000409039.3	+	38	6476	c.6451G>C	c.(6451-6453)Gaa>Caa	p.E2151Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2151	AAA 2 (By similarity).				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)		GAGTGTCATAGAACTCTACGG	0.493000													4	117					0	0	0.001168	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814500	106814500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:106814500G>C	ENST00000407775.2	+	8	2440	c.2190G>C	c.(2188-2190)caG>caC	p.Q730H	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q461H|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	730					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	p.Q730H(2)		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)			CTGCCATGCAGAGAACCATGC	0.522000													12	70					0	0	0.000978	0	0
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:135438316C>A	ENST00000394143.1	+	9	7210	c.6919C>A	c.(6919-6921)Cga>Aga	p.R2307R	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Silent_p.R2102R|GPR112_ENST00000394141.1_Silent_p.R2102R|GPR112_ENST00000370652.1_Silent_p.R2307R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2307R(3)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTCATGGATCGAGCTATTGT	0.343000													15	41					9.16793e-09	1.26323e-08	0.004990	1	0
FOPNL	123811	broad.mit.edu	37	16	15967411	15967411	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:15967411C>A	ENST00000255759.6	-	4	414	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	FOPNL_ENST00000575744.1_Missense_Mutation_p.G63W|FOPNL_ENST00000575073.1_Intron|FOPNL_ENST00000573429.1_Missense_Mutation_p.G153W|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000573396.1_Intron	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	129					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	p.G129W(2)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AGTGAAGGCCCTTTCAGAAAT	0.418000													26	123					4.87955e-14	7.82299e-14	0.005443	1	0
FANK1	92565	broad.mit.edu	37	10	127685120	127685120	+	Splice_Site	SNP	C	C	T	rs141545587		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:127685120C>T	ENST00000368695.1	+	5	504	c.380_splice	c.e5-1	p.R128_splice	FANK1_ENST00000368693.1_Splice_Site_p.R134_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	134						cytoplasm|nucleus		p.R134C(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TTTCCCAAGCCGTGTTAAGGT	0.448000													44	271					0	0	0.003610	0	0
GDAP1	54332	broad.mit.edu	37	8	75275211	75275211	+	Missense_Mutation	SNP	A	A	G	rs146768052		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:75275211A>G	ENST00000220822.7	+	5	697	c.617A>G	c.(616-618)aAg>aGg	p.K206R	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.K138R	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	206	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			AAGTATTTGAAGAAAATTCTT	0.308000													6	182					0	0	0.001984	0	0
FRZB	2487	broad.mit.edu	37	2	183723563	183723563	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:183723563T>A	ENST00000295113.4	-	2	1088		c.e2-2			NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein						brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TAGGAAAATCTGAAAGGAGGT	0.348000													35	118					0	0	0.003271	0	0
VPS13B	157680	broad.mit.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:100205158C>G	ENST00000395996.1	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000357162.2_Silent_p.L796L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Silent_p.L796L|VPS13B_ENST00000358544.2_Silent_p.L796L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373000													5	172					0	0	0.000602	0	0
OR5L1	219437	broad.mit.edu	37	11	55579766	55579766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:55579766C>A	ENST00000333973.2	+	1	913	c.824C>A	c.(823-825)aCc>aAc	p.T275N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGTGGCCACCGTGTTCTAC	0.468000													24	79					2.98393e-07	3.93038e-07	0.002780	1	0
OR51L1	119682	broad.mit.edu	37	11	5020771	5020771	+	Missense_Mutation	SNP	C	C	A	rs150980273	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:5020771C>A	ENST00000321543.1	+	1	559	c.559C>A	c.(559-561)Cta>Ata	p.L187I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187I(2)		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)		CCAGGATGTTCTAAGATTATC	0.448000													33	172					5.91797e-21	1.04702e-20	0.002445	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:138764850G>C	ENST00000242351.5	-	4	1153	c.837C>G	c.(835-837)atC>atG	p.I279M	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I279M|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I279M	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582000													17	270					0	0	0.006122	0	0
NPAP1	23742	broad.mit.edu	37	15	24923924	24923924	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:24923924T>G	ENST00000329468.2	+	1	3384	c.2910T>G	c.(2908-2910)agT>agG	p.S970R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S970R(2)									ACAATGCAAGTGCTTTCCCCA	0.478000													16	94					0	0	0.004007	0	0
FAM83B	222584	broad.mit.edu	37	6	54805781	54805781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:54805781C>A	ENST00000306858.7	+	5	2128	c.2012C>A	c.(2011-2013)tCa>tAa	p.S671*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	671								p.S671*(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTGACAACTCAAAAGCCAAC	0.353000													12	98					6.40141e-05	7.87663e-05	0.000978	1	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	21					0	0	0.004672	0	0
DROSHA	29102	broad.mit.edu	37	5	31526186	31526186	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:31526186C>A	ENST00000511367.2	-	4	1098	c.854_splice	c.e4+1	p.R285_splice	DROSHA_ENST00000513349.1_Splice_Site_p.R285_splice|DROSHA_ENST00000344624.3_Splice_Site_p.R285_splice|DROSHA_ENST00000442743.1_Splice_Site_p.R285_splice	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	285	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R285I(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCGGTTTACCTGCTCCGTTC	0.527000													34	110					3.11337e-16	5.2892e-16	0.002836	1	0
CDH7	1005	broad.mit.edu	37	18	63547963	63547963	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:63547963C>A	ENST00000397968.2	+	12	2617	c.2191C>A	c.(2191-2193)Cag>Aag	p.Q731K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q731K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	731					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q731K(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACTCCCTGCAGACATATGC	0.398000													32	145					1.39806e-14	2.27803e-14	0.008361	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:140346519G>A	ENST00000289269.5	+	1	700	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		56	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCGGCGCGCTCGTGGGCA	0.692000													5	10					0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	216251604	216251604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216251604C>G	ENST00000366943.2	-	27	5785	c.5399G>C	c.(5398-5400)tGg>tCg	p.W1800S	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W1800S|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1800	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W1800S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTTTATTCCACTTTCCATT	0.433000										HNSCC(13;0.011)			160	517					0	0	0.003610	0	0
PTPN9	5780	broad.mit.edu	37	15	75766070	75766070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:75766070C>A	ENST00000306726.2	-	10	1680	c.1168G>T	c.(1168-1170)Gta>Tta	p.V390L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	390	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.V390L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCCATACCATGAGCCAG	0.443000													35	213					1.90571e-15	3.17441e-15	0.004289	1	0
MYO1C	4641	broad.mit.edu	37	17	1385813	1385813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:1385813T>A	ENST00000359786.5	-	5	910	c.586A>T	c.(586-588)Agc>Tgc	p.S196C	MYO1C_ENST00000438665.2_Missense_Mutation_p.S177C|MYO1C_ENST00000361007.2_Missense_Mutation_p.S161C|MYO1C_ENST00000545534.2_Missense_Mutation_p.S172C|MYO1C_ENST00000575158.1_Missense_Mutation_p.S161C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	196	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.S161C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAACCTGCTGGAGTTATCG	0.562000													16	61					0	0	0.007413	0	0
ITGA8	8516	broad.mit.edu	37	10	15688991	15688991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:15688991G>T	ENST00000378076.3	-	12	1414	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	354					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P354H(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACTTCTCTGGGGTTGCTCTC	0.507000													22	112					3.62473e-10	5.32577e-10	0.001882	1	0
SLC6A5	9152	broad.mit.edu	37	11	20668466	20668466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:20668466C>G	ENST00000525748.1	+	14	2329	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	686					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P686A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTTGTAACCCCAACCATTTT	0.408000													12	118					0	0	0.002450	0	0
ACER2	340485	broad.mit.edu	37	9	19424744	19424744	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:19424744G>T	ENST00000340967.2	+	3	296	c.270G>T	c.(268-270)caG>caT	p.Q90H	ACER2_ENST00000380376.1_Missense_Mutation_p.Q41H	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	90					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.Q90H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTGGGTCAGATGCTTGATG	0.433000													30	172					1.7881e-09	2.52786e-09	0.008361	1	0
FATE1	89885	broad.mit.edu	37	X	150889897	150889897	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:150889897A>T	ENST00000370350.3	+	3	350	c.265A>T	c.(265-267)Aga>Tga	p.R89*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	89						endoplasmic reticulum|integral to membrane		p.R89*(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAATGCTGAGAGAATCAGG	0.542000													24	77					0	0	0.003954	0	0
CYYR1	116159	broad.mit.edu	37	21	27945230	27945230	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:27945230T>A	ENST00000299340.4	-	1	373	c.30A>T	c.(28-30)ccA>ccT	p.P10P	CYYR1_ENST00000435845.2_Silent_p.P118P|CYYR1_ENST00000400043.3_Silent_p.P10P	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	10						integral to membrane		p.P10P(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAAGACCCCTGGACGCACGG	0.667000													17	98					0	0	0.001523	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508135	65508135	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:65508135C>T	ENST00000355045.2	-	2	276		c.e2+1			NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.?(2)									CAGAGCCTTACCTCTCAGACT	0.542000													47	498					0	0	0.003610	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005823	118005823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:118005823C>T	ENST00000310754.4	-	1	913	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	243	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D243N(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TACTTTTCATCACTAAAGTAA	0.388000													16	99					0	0	0.006122	0	0
FNDC1	84624	broad.mit.edu	37	6	159654335	159654335	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:159654335T>A	ENST00000297267.9	+	11	2991	c.2791T>A	c.(2791-2793)Tcc>Acc	p.S931T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S868T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	931						extracellular region		p.S931T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAACCCCAAATCCACAGGGGC	0.612000													8	45					0	0	0.003080	0	0
DNAH1	25981	broad.mit.edu	37	3	52430796	52430796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:52430796G>A	ENST00000420323.2	+	72	11854	c.11593G>A	c.(11593-11595)Gat>Aat	p.D3865N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3930	AAA 6 (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	p.D3929N(2)|p.D3865N(2)		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)		GGACGAATATGATGACATCCC	0.582000													55	251					0	0	0.003610	0	0
C17orf66	256957	broad.mit.edu	37	17	34192287	34192287	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:34192287G>T	ENST00000311880.2	-	3	400	c.252C>A	c.(250-252)caC>caA	p.H84Q	C17orf66_ENST00000592980.1_Missense_Mutation_p.H84Q|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	84							binding	p.H84Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CATACAGGTCGTGCCAGTGCG	0.507000													7	75					0.000157383	0.000189748	0.003080	1	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:32631037G>T	ENST00000266086.4	-	8	719	c.708C>A	c.(706-708)taC>taA	p.Y236*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000													50	307					4.86159e-25	8.89062e-25	0.003610	1	0
ITGAD	3681	broad.mit.edu	37	16	31424230	31424230	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31424230C>A	ENST00000389202.2	+	15	1828	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	593					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L593L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCAGGACCTCACCCAGGATG	0.652000													34	123					1.45844e-13	2.30726e-13	0.002836	1	0
OR1N1	138883	broad.mit.edu	37	9	125289132	125289132	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:125289132C>A	ENST00000304880.2	-	1	440	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147C(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGAGGACCCAGCACAATG	0.537000													13	82					3.27435e-08	4.44005e-08	0.002450	1	0
F13A1	2162	broad.mit.edu	37	6	6224933	6224933	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:6224933C>A	ENST00000264870.3	-	7	1224	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	320					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G320V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTAAAGACACCAGCAAAAAC	0.418000													29	224					1.39806e-14	2.27803e-14	0.008361	1	0
GRID2	2895	broad.mit.edu	37	4	94436452	94436452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:94436452G>T	ENST00000282020.4	+	13	2341	c.2083G>T	c.(2083-2085)Gga>Tga	p.G695*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.G600*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	695					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G695*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCGCATGAAAGGACTGAATCC	0.488000													15	110					7.93312e-07	1.02907e-06	0.002450	1	0
COL24A1	255631	broad.mit.edu	37	1	86488678	86488678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:86488678G>A	ENST00000370571.2	-	15	2428	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P688S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	688	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent	p.P688S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTCCCACAGGGCCAACACTG	0.368000													6	47					0	0	0.001984	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250954	142250954	+	RNA	SNP	G	G	T	rs361438		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:142250954G>T	ENST00000390360.3	-	0	113																											CTGCTGCCAGGATCTGAGATG	0.522000													23	126					1.10923e-09	1.57558e-09	0.002780	1	0
PTPRC	5788	broad.mit.edu	37	1	198668802	198668802	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:198668802C>T	ENST00000367376.2	+	5	573	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PTPRC_ENST00000352140.3_Silent_p.L134L|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Silent_p.L136L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	134					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L134L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGCAAAACTCAACCCTACCC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	360					0	0	0.008740	0	0
COL16A1	1307	broad.mit.edu	37	1	32163594	32163594	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:32163594G>T	ENST00000373672.3	-	6	1086	c.570C>A	c.(568-570)tcC>tcA	p.S190S	COL16A1_ENST00000373668.3_Silent_p.S190S|COL16A1_ENST00000271069.6_Silent_p.S190S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	190	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.S190S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GAGGCTGGGAGGAGGCTGAGC	0.617000													6	68					2.0095e-06	2.56769e-06	0.001984	1	0
GPRASP2	114928	broad.mit.edu	37	X	101972152	101972152	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:101972152G>A	ENST00000543253.1	+	5	3274	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q	GPRASP2_ENST00000535209.1_Silent_p.Q785Q|GPRASP2_ENST00000332262.5_Silent_p.Q785Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.Q785Q(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGTTTCAGAATATCAGTA	0.303000													26	130					0	0	0.003330	0	0
ITGA11	22801	broad.mit.edu	37	15	68631901	68631901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:68631901G>A	ENST00000423218.2	-	11	1308	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P405S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCGCGGAGAGGAATGACCTTC	0.607000													9	62					0	0	0.006214	0	0
HPS4	89781	broad.mit.edu	37	22	26860726	26860726	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:26860726T>A	ENST00000398145.2	-	11	1486	c.870A>T	c.(868-870)acA>acT	p.T290T	HPS4_ENST00000402105.3_Silent_p.T285T|HPS4_ENST00000336873.5_Silent_p.T290T|HPS4_ENST00000398141.1_Silent_p.T303T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	290					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.T290T(2)|p.T303T(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGGGCAGATGTGCTCCCAC	0.572000									Hermansky-Pudlak syndrome				16	113					0	0	0.003163	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139092	126139092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:126139092A>T	ENST00000299308.3	+	9	3081	c.3073A>T	c.(3073-3075)Aag>Tag	p.K1025*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.K537*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1025						integral to membrane		p.K1025*(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAGAGAGTCAAGTTCACTTC	0.458000													32	86					0	0	0.002096	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885024	50885024	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:50885024C>T	ENST00000404795.3	-	3	1334	c.942G>A	c.(940-942)cgG>cgA	p.R314R	DMRTA2_ENST00000418121.1_Silent_p.R314R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R314R(2)		endometrium(1)|lung(4)|pancreas(1)	6						CCAGCGGCGTCCGCTGCCGTG	0.697000													9	36					0	0	0.004482	0	0
GMIP	51291	broad.mit.edu	37	19	19749278	19749278	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:19749278T>A	ENST00000203556.4	-	8	688	c.551A>T	c.(550-552)aAa>aTa	p.K184I	GMIP_ENST00000445806.2_Missense_Mutation_p.K184I|GMIP_ENST00000587238.1_Missense_Mutation_p.K184I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	184					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.K184I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAGTCCGTTTGGCGGCGAG	0.592000													8	35					0	0	0.001368	0	0
DHX32	55760	broad.mit.edu	37	10	127569217	127569217	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:127569217T>A	ENST00000284690.3	-	1	667	c.177A>T	c.(175-177)agA>agT	p.R59S	DHX32_ENST00000284688.6_Missense_Mutation_p.R59S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	59						mitochondrion|nucleus	ATP binding|helicase activity	p.R59S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAGATCTTCTCTTTCTTTCA	0.383000													21	128					0	0	0.001523	0	0
OR51D1	390038	broad.mit.edu	37	11	4661252	4661252	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:4661252A>G	ENST00000357605.2	+	1	308	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M78V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCCTGGCCATGCTTTCCAC	0.512000													13	102					0	0	0.003163	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197502	95197502	+	Silent	SNP	G	G	T	rs111425618		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:95197502G>T	ENST00000354268.4	+	15	1894	c.1821G>T	c.(1819-1821)gcG>gcT	p.A607A	SMARCAD1_ENST00000457823.2_Silent_p.A607A|SMARCAD1_ENST00000509418.1_Silent_p.A177A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	607	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.A607A(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATAACTGTGCGATCAGCAGTT	0.368000													11	54					1.5842e-08	2.17782e-08	0.001855	1	0
TPX2	22974	broad.mit.edu	37	20	30388777	30388777	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:30388777A>G	ENST00000340513.4	+	19	2774	c.2246A>G	c.(2245-2247)cAt>cGt	p.H749R	TPX2_ENST00000300403.6_Missense_Mutation_p.H713R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	713					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.H713R(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTGCAGGTGCATAAGGCAAAT	0.413000													141	298					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28483346	28483346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:28483346C>A	ENST00000261609.7	-	25	3874	c.3766G>T	c.(3766-3768)Gac>Tac	p.D1256Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1256	Cytochrome b5 heme-binding.				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	p.D1256Y(2)		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)		ACCACTGGGTCTTCCCCTGCA	0.458000													11	80					0.00010058	0.000122002	0.001368	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43796717	43796717	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:43796717T>C	ENST00000291532.3	-	11	2082	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.Y460C|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.Y375C|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.Y373C	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	376	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	p.Y376C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GATGCCACCGTACACGTCCCT	0.647000													21	242					0	0	0.002780	0	0
ASIC4	55515	broad.mit.edu	37	2	220397143	220397143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:220397143G>T	ENST00000358078.4	+	4	1357	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ASIC4_ENST00000347842.3_Missense_Mutation_p.R448L|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	448						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.R448L(2)									TGCCGGCTGCGCTGTGAAAAG	0.672000													11	61					0.000978159	0.0011583	0.000978	1	0
SSX3	10214	broad.mit.edu	37	X	48209509	48209509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:48209509G>T	ENST00000298396.2	-	6	431	c.379C>A	c.(379-381)Cca>Aca	p.P127T	SSX3_ENST00000376895.1_Missense_Mutation_p.P39T|SSX3_ENST00000376893.3_Missense_Mutation_p.P127T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P127T(4)		endometrium(3)|large_intestine(1)|lung(9)	13						GATGCTTCTGGCACTTCCTTC	0.438000													84	214					2.16136e-38	4.06444e-38	0.003610	1	0
DUSP6	1848	broad.mit.edu	37	12	89743161	89743161	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:89743161T>A	ENST00000279488.7	-	3	2247	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	DUSP6_ENST00000547291.1_Missense_Mutation_p.Q214L|DUSP6_ENST00000308385.6_Missense_Mutation_p.Q193L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	339	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Q339L(2)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTCCAGCAGCTGACCCATGAA	0.478000													64	181					0	0	0.003610	0	0
BEST4	266675	broad.mit.edu	37	1	45253101	45253101	+	Nonsense_Mutation	SNP	G	G	A	rs138830699		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:45253101G>A	ENST00000372207.3	-	2	189	c.190C>T	c.(190-192)Cag>Tag	p.Q64*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	64						chloride channel complex|plasma membrane	chloride channel activity	p.Q64*(2)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGGGCCACCTGAGCATACACG	0.587000													55	363					0	0	0.003610	0	0
OR2M5	127059	broad.mit.edu	37	1	248308701	248308701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:248308701C>A	ENST00000366476.1	+	1	252	c.252C>A	c.(250-252)aaC>aaA	p.N84K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N84K(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGGCCTTCAACTACTTGTCTG	0.493000													182	486					3.77185e-81	7.16052e-81	0.003610	1	0
MRC2	9902	broad.mit.edu	37	17	60754829	60754829	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:60754829A>T	ENST00000303375.5	+	12	2436	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	678	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K678N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACACCAAACTCCGGTATT	0.662000													5	18					0	0	0.001984	0	0
LPL	4023	broad.mit.edu	37	8	19818481	19818481	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:19818481C>G	ENST00000311322.8	+	8	1679	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	403	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.L403L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GAGAACTACTCATGTTGAAGC	0.408000													18	94					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141130585	141130585	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:141130585C>A	ENST00000389484.3	-	69	11731	c.10760G>T	c.(10759-10761)tGt>tTt	p.C3587F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3587	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3587F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGGCTCACAGCTTTTCTC	0.363000										TSP Lung(27;0.18)			23	216					9.39395e-14	1.49802e-13	0.006320	1	0
MYH2	4620	broad.mit.edu	37	17	10426485	10426485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:10426485C>A	ENST00000245503.5	-	39	5979	c.5595G>T	c.(5593-5595)aaG>aaT	p.K1865N	MYH2_ENST00000397183.2_Missense_Mutation_p.K1865N|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1865					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1865N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGAATATTCTTTCTATCTT	0.333000													6	78					0.00307968	0.00361107	0.003080	1	0
C11orf45	219833	broad.mit.edu	37	11	128772478	128772478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:128772478G>A	ENST00000310799.3	-	4	605	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Nonsense_Mutation_p.Q138*	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	138						extracellular region		p.Q138*(1)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		GAACCAGGCTGATGGGCACTG	0.617000													11	50					0	0	0.000978	0	0
COL6A3	1293	broad.mit.edu	37	2	238289824	238289824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:238289824C>A	ENST00000295550.4	-	5	2083	c.1631G>T	c.(1630-1632)cGg>cTg	p.R544L	COL6A3_ENST00000472056.1_Missense_Mutation_p.R137L|COL6A3_ENST00000346358.4_Missense_Mutation_p.R544L|COL6A3_ENST00000353578.4_Missense_Mutation_p.R338L|COL6A3_ENST00000392003.2_Missense_Mutation_p.R137L|COL6A3_ENST00000347401.3_Missense_Mutation_p.R343L|COL6A3_ENST00000392004.3_Missense_Mutation_p.R338L|COL6A3_ENST00000409809.1_Missense_Mutation_p.R338L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	544	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R338L(2)|p.R544L(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGGCAGCCCGGTAGCCGGC	0.557000													33	195					6.00712e-18	1.03823e-17	0.002445	1	0
IMMT	10989	broad.mit.edu	37	2	86371798	86371798	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:86371798C>T	ENST00000410111.3	-	15	2257	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	IMMT_ENST00000254636.5_Missense_Mutation_p.G525R|IMMT_ENST00000449247.2_Missense_Mutation_p.G613R|IMMT_ENST00000442664.2_Missense_Mutation_p.G623R|IMMT_ENST00000409051.2_Missense_Mutation_p.G577R	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	624						integral to mitochondrial inner membrane	protein binding	p.G624R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTACACCCCACGGGTCAGG	0.498000													30	213					0	0	0.007291	0	0
ADCY2	108	broad.mit.edu	37	5	7698359	7698359	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:7698359G>T	ENST00000338316.4	+	7	1070		c.e7-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTCTTCCAGGAGAATGAAT	0.388000													72	254					4.29146e-36	8.0448e-36	0.003610	1	0
UGDH	7358	broad.mit.edu	37	4	39511522	39511522	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:39511522T>C	ENST00000316423.6	-	6	1011	c.669A>G	c.(667-669)gcA>gcG	p.A223A	UGDH_ENST00000507089.1_Silent_p.A126A|UGDH_ENST00000501493.2_Silent_p.A156A|UGDH_ENST00000506179.1_Silent_p.A223A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	223	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.A223A(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAAAAGCATTTGCTGCCTTAA	0.363000													10	76					0	0	0.006214	0	0
UNC5C	8633	broad.mit.edu	37	4	96140295	96140295	+	Silent	SNP	G	G	T	rs145160489		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:96140295G>T	ENST00000453304.1	-	9	1818	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	UNC5C_ENST00000506749.1_Silent_p.P509P	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	490					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.P490P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGTCATCTTGGGGGGTGACAG	0.498000													67	310					5.52965e-18	9.58472e-18	0.003610	1	0
NUFIP2	57532	broad.mit.edu	37	17	27614038	27614038	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:27614038G>A	ENST00000225388.4	-	2	1032	c.974C>T	c.(973-975)tCa>tTa	p.S325L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	325						nucleus|polysomal ribosome	protein binding|RNA binding	p.S325L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GGCAACAGCTGAAGCATGCTT	0.443000													31	235					0	0	0.007291	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265006	32265006	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:32265006C>A	ENST00000398664.3	+	1	967	c.332C>A	c.(331-333)cCt>cAt	p.P111H	TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.P111H	NM_001243722.1	NP_001230651.1			TP53 target 3D									p.P111H(4)									GGTCGGTGGCCTCTCACTGCC	0.587000													16	212					1.99824e-07	2.63785e-07	0.004990	1	0
ANK2	287	broad.mit.edu	37	4	114279402	114279402	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:114279402A>G	ENST00000357077.4	+	38	9681	c.9628A>G	c.(9628-9630)Act>Gct	p.T3210A	ANK2_ENST00000264366.6_Missense_Mutation_p.T3177A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3177					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3210A(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCAGCCTCCACTGAAACACC	0.483000													21	116					0	0	0.008871	0	0
HYDIN	54768	broad.mit.edu	37	16	70841870	70841870	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:70841870G>T	ENST00000393567.2	-	86	15129	c.14979C>A	c.(14977-14979)ccC>ccA	p.P4993P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4993								p.P4992P(2)|p.P4944P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGCTGGGCTCGAATA	0.557000													15	129					1.96292e-10	2.89834e-10	0.001523	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992633	43992633	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:43992633C>T	ENST00000282406.4	+	30	4488	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1460						cytoplasm|cytoskeleton|integral to membrane	binding	p.P1460S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCTCTGCTCCAGCACTGCT	0.502000													23	102					0	0	0.001882	0	0
FAT4	79633	broad.mit.edu	37	4	126328260	126328260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:126328260G>T	ENST00000394329.3	+	3	5546	c.5533G>T	c.(5533-5535)Gtg>Ttg	p.V1845L	FAT4_ENST00000335110.5_Missense_Mutation_p.V143L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1845L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCAGACCCGTGTACTCTTT	0.408000													43	237					1.30916e-28	2.43131e-28	0.003610	1	0
SERPINB8	5271	broad.mit.edu	37	18	61654176	61654176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr18:61654176G>T	ENST00000397985.2	+	7	1045	c.789G>T	c.(787-789)aaG>aaT	p.K263N	SERPINB8_ENST00000542677.1_Missense_Mutation_p.K81N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K263N|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	263					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.K263N(2)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAAAAGTAAGGTTCAAGTTT	0.378000													25	136					2.21704e-12	3.40819e-12	0.002780	1	0
SLC8A1	6546	broad.mit.edu	37	2	40657385	40657385	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:40657385G>T	ENST00000406785.1	-	2	225	c.36C>A	c.(34-36)acC>acA	p.T12T	SLC8A1_ENST00000406391.2_Silent_p.T12T|SLC8A1_ENST00000542756.1_Silent_p.T12T|SLC8A1_ENST00000542024.1_Silent_p.T12T|SLC8A1_ENST00000405269.1_Silent_p.T12T|SLC8A1_ENST00000408028.2_Silent_p.T12T|SLC8A1_ENST00000405901.3_Silent_p.T12T|SLC8A1_ENST00000403092.1_Silent_p.T12T|SLC8A1_ENST00000402441.1_Silent_p.T12T|SLC8A1_ENST00000332839.4_Silent_p.T12T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T12T(3)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGAAAAGGTGGGTGAAA	0.408000													21	86					2.89027e-11	4.34266e-11	0.002299	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063015	48063015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:48063015G>A	ENST00000316364.5	+	19	2694	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	SEMA6D_ENST00000389433.2_Missense_Mutation_p.G733E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G696E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G752E|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G677E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G709E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G690E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	752					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.G690E(2)|p.G752E(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCACCCAATGGAGATACTAAA	0.483000													29	98					0	0	0.007291	0	0
LSP1	4046	broad.mit.edu	37	11	1905755	1905755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:1905755G>T	ENST00000406638.2	+	7	1777	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	LSP1_ENST00000311604.3_Missense_Mutation_p.D221Y|LSP1_ENST00000381775.1_Missense_Mutation_p.D349Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Missense_Mutation_p.D159Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	221					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.D159Y(2)|p.D221Y(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATCCCAGCCAGACTTGCCCAT	0.562000													10	89					6.31663e-08	8.50753e-08	0.003163	1	0
FAM163A	148753	broad.mit.edu	37	1	179782940	179782940	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:179782940C>A	ENST00000341785.4	+	5	516	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	40						integral to membrane		p.T40T(2)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGAGCGGAACCGAGGTTGCAG	0.627000													18	109					2.4624e-09	3.4566e-09	0.008871	1	0
SERPINA6	866	broad.mit.edu	37	14	94776131	94776131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:94776131C>A	ENST00000341584.3	-	3	972	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	276					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGCGATGACTGTGTTCATC	0.557000													23	182					1.9806e-07	2.632e-07	0.002299	1	0
MYH6	4624	broad.mit.edu	37	14	23853903	23853903	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:23853903C>T	ENST00000405093.3	-	36	5383	c.5313G>A	c.(5311-5313)ctG>ctA	p.L1771L	MYH6_ENST00000356287.3_Silent_p.L1771L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1771					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1771L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCCTTCTTCAGCTCCTCTG	0.622000													23	199					0	0	0.003954	0	0
CHRM3	1131	broad.mit.edu	37	1	240072343	240072343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:240072343G>C	ENST00000255380.4	+	5	2371	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGGGCTACTGGCTGTGCTAC	0.488000													47	130					0	0	0.003610	0	0
MYT1	4661	broad.mit.edu	37	20	62839147	62839147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:62839147G>T	ENST00000536311.1	+	7	962	c.598G>T	c.(598-600)Gag>Tag	p.E200*	MYT1_ENST00000328439.1_Nonsense_Mutation_p.E200*|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	200	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E200*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTGCTTCAGGAGGCTGCAGA	0.607000													12	87					0.000978159	0.0011583	0.000978	1	0
MUC16	94025	broad.mit.edu	37	19	9075971	9075971	+	Silent	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9075971T>G	ENST00000397910.4	-	3	11678	c.11475A>C	c.(11473-11475)ccA>ccC	p.P3825P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3826	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3825P(4)		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						GCACCTGCCCTGGATGTGCAG	0.507000													57	295					0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154684104	154684104	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:154684104T>A	ENST00000404039.1	+	26	2907	c.2320T>A	c.(2320-2322)Tcc>Acc	p.S774T	DPP6_ENST00000427557.1_Missense_Mutation_p.S731T|DPP6_ENST00000332007.3_Missense_Mutation_p.S776T|DPP6_ENST00000377770.3_Missense_Mutation_p.S838T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	838					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S838T(2)|p.S774T(2)|p.S776T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTACCGGTCCATCATCAA	0.507000													18	167					0	0	0.007413	0	0
RGS20	8601	broad.mit.edu	37	8	54859271	54859271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:54859271C>A	ENST00000297313.3	+	4	798	c.706C>A	c.(706-708)Cac>Aac	p.H236N	RGS20_ENST00000344277.6_Missense_Mutation_p.H121N|RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.H89N	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	236					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H236N(2)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AATAGCTTCCCACGAACTCAG	0.408000													6	96					0.00116845	0.00137817	0.001168	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110477365G>T	ENST00000378402.5	+	49	8408	c.8304G>T	c.(8302-8304)ggG>ggT	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			21	183					7.88262e-20	1.37831e-19	0.003330	1	0
MMP16	4325	broad.mit.edu	37	8	89131071	89131071	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:89131071T>A	ENST00000286614.6	-	5	1010	c.729A>T	c.(727-729)gtA>gtT	p.V243V	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	243					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.V243V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATGGACTGCTACAAGAAATA	0.378000													8	96					0	0	0.003080	0	0
CHRM3	1131	broad.mit.edu	37	1	240072344	240072344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:240072344G>T	ENST00000255380.4	+	5	2372	c.1593G>T	c.(1591-1593)tgG>tgT	p.W531C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGGCTACTGGCTGTGCTACA	0.483000													49	129					8.04919e-23	1.44547e-22	0.003610	1	0
DHRSX	207063	broad.mit.edu	37	X	2209645	2209645	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:2209645C>A	ENST00000334651.5	-	4	339		c.e4-1			NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked								binding|oxidoreductase activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAAAATTCCACTGGAAAAGGA	0.378000													23	182					6.44725e-10	9.40355e-10	0.002299	1	0
TRIM69	140691	broad.mit.edu	37	15	45059966	45059966	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:45059966A>T	ENST00000558173.1	+	5	5632	c.887A>T	c.(886-888)cAg>cTg	p.Q296L	TRIM69_ENST00000329464.4_Missense_Mutation_p.Q500L|TRIM69_ENST00000560442.1_Missense_Mutation_p.Q296L|TRIM69_ENST00000559390.1_Missense_Mutation_p.Q500L|TRIM69_ENST00000338264.4_Missense_Mutation_p.Q341L|TRIM69_ENST00000558329.1_Missense_Mutation_p.Q279L|TRIM69_ENST00000561043.1_Missense_Mutation_p.Q263L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	500					apoptosis	nuclear speck	zinc ion binding	p.Q500L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTACATCCACAGTAATGAGTC	0.358000													26	77					0	0	0.003954	0	0
ESD	2098	broad.mit.edu	37	13	47354087	47354087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:47354087C>A	ENST00000378720.3	-	8	765	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	ESD_ENST00000378697.1_Missense_Mutation_p.D166Y	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	195						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	p.D195Y(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTACTTTGATCTGTTCCCAAA	0.373000													27	112					4.74835e-14	7.67437e-14	0.002096	1	0
SPTA1	6708	broad.mit.edu	37	1	158583603	158583603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:158583603G>T	ENST00000368148.3	-	50	7077	c.6897C>A	c.(6895-6897)tgC>tgA	p.C2299*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.C2296*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2299	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.C2299*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCTCTCAGGCAGGACCGGA	0.438000													13	121					1.36491e-13	2.16503e-13	0.001855	1	0
SPOCK3	50859	broad.mit.edu	37	4	167713350	167713350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:167713350G>T	ENST00000357154.3	-	8	826	c.689C>A	c.(688-690)aCa>aAa	p.T230K	SPOCK3_ENST00000512648.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T134K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T110K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T227K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T179K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.T227K(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAATGTTTTTGTCTTCTTGTT	0.403000													18	77					1.67942e-08	2.29815e-08	0.006122	1	0
TAF1L	138474	broad.mit.edu	37	9	32632534	32632534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:32632534C>T	ENST00000242310.4	-	1	3133	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1015					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1015H(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAGGCGACGAAGGTCTGC	0.448000													87	410					0	0	0.003610	0	0
CNTN3	5067	broad.mit.edu	37	3	74315674	74315674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:74315674C>G	ENST00000263665.6	-	21	2971	c.2944G>C	c.(2944-2946)Gat>Cat	p.D982H	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	982	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D982H(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTCCCATCCCCTCCATCT	0.408000													58	352					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168102029	168102029	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:168102029A>T	ENST00000409195.1	+	9	4216	c.4127A>T	c.(4126-4128)cAa>cTa	p.Q1376L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1376L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1154L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1201					actin cytoskeleton organization	cell junction	actin binding	p.Q1376L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGTCACACAAGAAGACATT	0.363000													19	107					0	0	0.006122	0	0
USH2A	7399	broad.mit.edu	37	1	216372980	216372980	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216372980G>A	ENST00000366943.2	-	17	4186	c.3800C>T	c.(3799-3801)gCg>gTg	p.A1267V	USH2A_ENST00000366942.3_Missense_Mutation_p.A1267V|USH2A_ENST00000307340.3_Missense_Mutation_p.A1267V|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1267	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1267V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTAGTTCCGCTGGTGGAGA	0.428000										HNSCC(13;0.011)			25	154					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9057909	9057909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9057909G>C	ENST00000397910.4	-	3	29740	c.29537C>G	c.(29536-29538)aCc>aGc	p.T9846S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T9846S(2)|p.T5479S(2)		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						CACAGCGGAGGTGATACCCAT	0.483000													20	166					0	0	0.004656	0	0
LOC150776	150776	broad.mit.edu	37	2	132273932	132273932	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:132273932G>T	ENST00000438378.2	+	0	1426					NR_026922.1																						ACCTCTTCTTGGAGCATTGCT	0.612000													5	35					1.23904e-05	1.54686e-05	0.000602	1	0
LCE3E	353145	broad.mit.edu	37	1	152538599	152538599	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:152538599C>A	ENST00000368789.1	-	2	141	c.86G>T	c.(85-87)tGt>tTt	p.C29F		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	29					keratinization			p.C29F(2)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGAGGCAGACACTGTACTGG	0.632000													46	157					6.68952e-21	1.17657e-20	0.003214	1	0
AQP10	89872	broad.mit.edu	37	1	154296762	154296762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:154296762G>A	ENST00000324978.3	+	6	752	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	238					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.G238S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGCAGTGCTGGTAATGGCTG	0.602000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	57					0	0	0.002096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439382	110439382	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110439382A>G	ENST00000378402.5	+	25	3101	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	999					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1001L(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAATCTTCTACAGGTTCCCT	0.458000										HNSCC(38;0.096)			18	75					0	0	0.006122	0	0
PTK2	5747	broad.mit.edu	37	8	141712746	141712746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:141712746G>A	ENST00000522684.1	-	25	2519	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q764*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000538769.1_Nonsense_Mutation_p.Q432*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q764*|PTK2_ENST00000519465.1_Nonsense_Mutation_p.Q392*|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q764*|PTK2_ENST00000430260.2_Nonsense_Mutation_p.Q74*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	764	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.Q716*(2)|p.Q786*(2)|p.Q764*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGAGATGCCTGACCTGGATAG	0.478000													21	151					0	0	0.002780	0	0
FGF5	2250	broad.mit.edu	37	4	81207742	81207742	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:81207742C>G	ENST00000312465.7	+	3	949	c.723C>G	c.(721-723)agC>agG	p.S241R	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	241					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.S241R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCCACCTAGCCCTATCAAGC	0.443000													15	120					0	0	0.002450	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605176	142605176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:142605176C>G	ENST00000370503.2	-	1	127	c.44G>C	c.(43-45)aGc>aCc	p.S15T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	15								p.S15T(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCACAGGGGCTCTTCGTCTT	0.468000													50	139					0	0	0.003610	0	0
HBD	3045	broad.mit.edu	37	11	5254211	5254211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:5254211C>A	ENST00000380299.3	-	3	641	c.427G>T	c.(427-429)Gct>Tct	p.A143S	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	143			A -> D (in Fitzroy).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A143S(2)|p.A143P(1)		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)		TACTTGTGAGCCAGGGCATTA	0.493000													14	141					1.3612e-06	1.75054e-06	0.003163	1	0
ITGAD	3681	broad.mit.edu	37	16	31429491	31429491	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:31429491C>A	ENST00000389202.2	+	21	2644	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	865					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P865P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAACCACCCCATCTTCCATG	0.572000													34	204					1.54707e-10	2.28996e-10	0.003610	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110396316	110396316	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110396316C>T	ENST00000378402.5	+	5	539	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	145					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T145T(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTTAGAACCCCAACAATAA	0.284000										HNSCC(38;0.096)			17	179					0	0	0.001523	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441505	44441505	+	Silent	SNP	G	G	T	rs148642401		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:44441505G>T	ENST00000291547.5	+	8	1024	c.813G>T	c.(811-813)acG>acT	p.T271T	PKNOX1_ENST00000432907.2_Silent_p.T154T	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	271							sequence-specific DNA binding	p.T271T(2)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGCATGCCACGAACGTGATGC	0.527000													19	112					1.28384e-07	1.7137e-07	0.001882	1	0
NUDCD1	84955	broad.mit.edu	37	8	110334668	110334668	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:110334668T>C	ENST00000239690.4	-	2	517	c.143A>G	c.(142-144)gAt>gGt	p.D48G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D19G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	48								p.D48G(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATATTGATCATCTCGAAGTTT	0.368000													9	100					0	0	0.008291	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	41					2.32078e-09	3.26548e-09	0.003163	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267765	103267765	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:103267765G>A	ENST00000217926.5	-	1	494	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	156					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.S156S(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCGTGCCTTCGGACTCGGCGA	0.662000													30	49					0	0	0.001786	0	0
SYNE3	161176	broad.mit.edu	37	14	95910860	95910860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:95910860C>A	ENST00000334258.5	-	9	1752	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	SYNE3_ENST00000554873.1_Missense_Mutation_p.D337Y|SYNE3_ENST00000553340.1_Missense_Mutation_p.D580Y|SYNE3_ENST00000557275.1_Missense_Mutation_p.D580Y	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.D580Y(6)		breast(1)|endometrium(2)|lung(25)	28						CCAGGAAGGTCCCGCTGAAGC	0.602000													14	78					2.31682e-05	2.86845e-05	0.003163	1	0
USH2A	7399	broad.mit.edu	37	1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216251649G>C	ENST00000366943.2	-	27	5740	c.5354C>G	c.(5353-5355)aCa>aGa	p.T1785R	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1785R|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1785	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353000										HNSCC(13;0.011)			85	720					0	0	0.003610	0	0
ABCG1	9619	broad.mit.edu	37	21	43706025	43706025	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:43706025G>T	ENST00000398437.1	+	9	1480	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	ABCG1_ENST00000340588.4_Silent_p.R406R|ABCG1_ENST00000398449.3_Silent_p.R298R|ABCG1_ENST00000343687.3_Silent_p.R309R|ABCG1_ENST00000361802.2_Silent_p.R298R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.R300R|ABCG1_ENST00000347800.2_Silent_p.R295R			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	298	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R298R(2)|p.R300R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTGTACCGGGGAAAAGTCT	0.517000													48	320					7.77372e-23	1.40021e-22	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	114111142	114111142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:114111142T>A	ENST00000297405.5	-	5	1004	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S254C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S254C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S214C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	254	CUB 2.					integral to membrane|plasma membrane		p.S214C(2)|p.S254C(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACTAGGGCTGGATATGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	125					0	0	0.001855	0	0
CASP4	837	broad.mit.edu	37	11	104819384	104819384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:104819384C>A	ENST00000444739.2	-	6	1711	c.801G>T	c.(799-801)tgG>tgT	p.W267C	CASP4_ENST00000393150.3_Missense_Mutation_p.W211C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	267					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.W267C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGTCTCTGACCCACAGTTCCC	0.498000													11	75					4.36969e-10	6.4046e-10	0.001855	1	0
USPL1	10208	broad.mit.edu	37	13	31205085	31205085	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:31205085G>T	ENST00000255304.4	+	4	684	c.342G>T	c.(340-342)aaG>aaT	p.K114N	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	114					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K114N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCAGCTATAAGGATTCACTTC	0.353000													18	85					1.99824e-07	2.63785e-07	0.004990	1	0
CYYR1	116159	broad.mit.edu	37	21	27945230	27945230	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:27945230T>A	ENST00000299340.4	-	1	373	c.30A>T	c.(28-30)ccA>ccT	p.P10P	CYYR1_ENST00000435845.2_Silent_p.P118P|CYYR1_ENST00000400043.3_Silent_p.P10P	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	10						integral to membrane		p.P10P(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAAGACCCCTGGACGCACGG	0.667000													30	133					0	0	0.760397	0	0
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:168106863G>A	ENST00000409195.1	+	9	9050	c.8961G>A	c.(8959-8961)ctG>ctA	p.L2987L	XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343000													31	296					0	0	0.779181	0	0
AFF2	2334	broad.mit.edu	37	X	147744265	147744265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:147744265G>T	ENST00000370460.2	+	3	1496	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	AFF2_ENST00000370457.5_Missense_Mutation_p.K335N|AFF2_ENST00000370458.1_Missense_Mutation_p.K335N|AFF2_ENST00000342251.3_Missense_Mutation_p.K335N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	339					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.K339N(4)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGCCAAAGTTCACCATCC	0.363000													27	55					1.75199e-13	2.24556e-13	0.717897	1	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:120008510C>A	ENST00000341846.5	-	1	651	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000													58	162					3.36121e-32	5.40576e-32	0.870114	1	0
VWA7	80737	broad.mit.edu	37	6	31740879	31740879	+	Silent	SNP	G	G	A	rs146780305	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:31740879G>A	ENST00000375686.3	-	7	1176	c.939C>T	c.(937-939)gcC>gcT	p.A313A	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.A313A|VWA7_ENST00000447450.1_Silent_p.A313A	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	313						extracellular region		p.A313A(2)									TCAGGCTGGAGGCTGGGGTGA	0.632000													5	15					0	0	0.217242	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513959	1513959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:1513959C>A	ENST00000421627.2	+	3	1235	c.1101C>A	c.(1099-1101)agC>agA	p.S367R	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	446					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S411R(1)|p.S389R(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGAGGAGAGCGGAGAGTCAG	0.567000													3	22					0.004672	0.00487471	0.115264	1	0
OR4M2	390538	broad.mit.edu	37	15	22368980	22368980	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:22368980C>A	ENST00000332663.2	+	1	503	c.405C>A	c.(403-405)atC>atA	p.I135I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCTACCATCATGAATCAAC	0.502000													49	929					8.86878e-18	1.23722e-17	0.870114	1	0
PEG3	5178	broad.mit.edu	37	19	57327996	57327996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:57327996C>A	ENST00000326441.9	-	10	2177	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	PEG3_ENST00000598410.1_Missense_Mutation_p.G481V|PEG3_ENST00000593695.1_Missense_Mutation_p.G479V|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G605V|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGTTTCCCCGCGCtcacg	0.453000													17	62					2.94398e-08	3.4256e-08	0.557998	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672000													5	25					0	0	0.217242	0	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:93015490G>T	ENST00000333334.2	+	1	607	c.112G>T	c.(112-114)Gga>Tga	p.G38*	C15orf32_ENST00000556865.1_Nonsense_Mutation_p.G38*	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38								p.G38*(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAAC	0.542000													33	157					5.48756e-27	8.55315e-27	0.859065	1	0
MMD	23531	broad.mit.edu	37	17	53491543	53491543	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:53491543T>C	ENST00000262065.3	-	2	373	c.77A>G	c.(76-78)tAt>tGt	p.Y26C		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	26					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	p.Y26C(2)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGCATGTTCATAGCAAGTTGG	0.453000													21	206					0	0	0.706142	0	0
GLI1	2735	broad.mit.edu	37	12	57864243	57864243	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:57864243G>A	ENST00000228682.2	+	12	1811	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	GLI1_ENST00000543426.1_Missense_Mutation_p.G446R|GLI1_ENST00000546141.1_Missense_Mutation_p.G533R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	574					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.G574R(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCAGAGAATGGAGCATCCTC	0.632000													10	60					0	0	0.411799	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480376	37480376	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:37480376A>T	ENST00000381792.2	-	10	1295	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.D394E|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.D385E|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.D385E|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.D394E			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	394	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.D394E(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGCACGGCAAATCATACTTCT	0.617000													9	50					0	0	0.335167	0	0
MMRN1	22915	broad.mit.edu	37	4	90857222	90857222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:90857222C>G	ENST00000394980.1	+	7	2710	c.2391C>G	c.(2389-2391)aaC>aaG	p.N797K	MMRN1_ENST00000508372.1_Missense_Mutation_p.N539K|MMRN1_ENST00000264790.2_Missense_Mutation_p.N797K|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	797					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.N797K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAGATATAACTTTGTTTTGC	0.373000													11	50					0	0	0.387290	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57970609	57970609	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:57970609G>A	ENST00000225577.4	+	1	85	c.64G>A	c.(64-66)Gag>Aag	p.E22K	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E22K|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E22K|RPS6KB1_ENST00000393021.3_5'UTR	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	22					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	p.E22K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CAGGGAAGCTGAGGACATGGC	0.692000													4	18					0	0	0.184627	0	0
SALL2	6297	broad.mit.edu	37	14	21992890	21992890	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:21992890G>A	ENST00000327430.3	-	2	1266	c.972C>T	c.(970-972)acC>acT	p.T324T	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.T187T|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	324							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T324T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTAGTCCCGTGGTGCTTGGGA	0.627000													18	33					0	0	0.592651	0	0
MYH13	8735	broad.mit.edu	37	17	10204269	10204269	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10204269C>T	ENST00000418404.3	-	40	5979	c.5816G>A	c.(5815-5817)tGa>tAa	p.*1939*	MYH13_ENST00000252172.4_Silent_p.*1939*|MYH13_ENST00000570743.1_Silent_p.*1939*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	0					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.*1939*(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTGAGCCTCATTCTTCCAT	0.438000													20	190					0	0	0.667858	0	0
NPHS2	7827	broad.mit.edu	37	1	179520370	179520370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:179520370G>T	ENST00000367615.4	-	8	1158	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.P296T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding	p.P364T(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGGACTTGGGAAGGGGAGG	0.488000													18	183					4.47668e-21	6.53388e-21	0.667858	1	0
FAM129C	199786	broad.mit.edu	37	19	17664237	17664237	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:17664237T>C	ENST00000335393.4	+	16	2097	c.1959T>C	c.(1957-1959)tcT>tcC	p.S653S	FAM129C_ENST00000449408.2_Silent_p.S379S|FAM129C_ENST00000601861.1_Silent_p.S622S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	653								p.S653S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTCTGCTGTCTTGCAGCTGCT	0.527000													25	99					0	0	0.681144	0	0
USH2A	7399	broad.mit.edu	37	1	216062334	216062334	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216062334A>T	ENST00000366943.2	-	41	8043	c.7657T>A	c.(7657-7659)Tgg>Agg	p.W2553R	USH2A_ENST00000307340.3_Missense_Mutation_p.W2553R|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2553	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W2553R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGCTGCCAGGTGACCAAC	0.408000										HNSCC(13;0.011)			22	185					0	0	0.667858	0	0
LOC645752	645752	broad.mit.edu	37	15	78214375	78214375	+	RNA	SNP	T	T	C	rs4886974	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:78214375T>C	ENST00000567226.1	-	0	345																											AATCACGTTATTTCTTCCAGC	0.512000													4	81					0	0	0.184627	0	0
FAM194A	131831	broad.mit.edu	37	3	150377865	150377865	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:150377865C>G	ENST00000295910.6	-	14	1858	c.1806G>C	c.(1804-1806)aaG>aaC	p.K602N	FAM194A_ENST00000491361.1_Missense_Mutation_p.K456N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	602								p.K602N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGACGGATCTTTATTAAAC	0.423000													43	177					0	0	0.870114	0	0
ANKRD26	22852	broad.mit.edu	37	10	27355419	27355419	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:27355419A>G	ENST00000376087.4	-	11	1431	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S	ANKRD26_ENST00000436985.2_Silent_p.S471S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	422						centrosome		p.S422S(2)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAAGTACCTCAGAATCCCAAG	0.318000													4	42					0	0	0.150653	0	0
C19orf40	91442	broad.mit.edu	37	19	33464996	33464996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:33464996G>C	ENST00000588258.1	+	4	384	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	C19orf40_ENST00000590281.1_Missense_Mutation_p.E92Q|C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	92					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	p.E92Q(2)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418000								Direct reversal of damage					6	86					0	0	0.248553	0	0
OSBPL10	114884	broad.mit.edu	37	3	31871586	31871586	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:31871586T>A	ENST00000396556.2	-	4	797	c.675A>T	c.(673-675)gcA>gcT	p.A225A	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	225					lipid transport		lipid binding	p.A225A(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTCGGGCGGCTGCAGGCGACT	0.587000													12	60					0	0	0.435327	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219383918	219383918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:219383918A>T	ENST00000366928.5	+	4	453	c.406A>T	c.(406-408)Aga>Tga	p.R136*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.R120*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	136						cytoplasm	lysophospholipase activity	p.R136*(2)		large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTTAGCATATAGAAATCATCA	0.303000													21	164					0	0	0.827153	0	0
C12orf36	283422	broad.mit.edu	37	12	13529158	13529158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:13529158C>A	ENST00000532841.1	-	2	305	c.182G>T	c.(181-183)aGg>aTg	p.R61M	C12orf36_ENST00000318426.2_Splice_Site_p.S61_splice|C12orf36_ENST00000527705.2_Splice_Site_p.S61_splice|C12orf36_ENST00000539026.1_Splice_Site_p.R61_splice					chromosome 12 open reading frame 36									p.S61I(2)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcccactcacctccacagcct	0.488000													24	266					1.45844e-13	1.87407e-13	0.769981	1	0
LRRC15	131578	broad.mit.edu	37	3	194081543	194081543	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:194081543G>A	ENST00000347624.3	-	2	315	c.230C>T	c.(229-231)tCa>tTa	p.S77L	LRRC15_ENST00000439944.2_Missense_Mutation_p.S83L|LRRC15_ENST00000428839.1_Missense_Mutation_p.S83L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	77						integral to membrane		p.S77L(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GATGAGGGCTGAGATATTGAG	0.587000													24	86					0	0	0.654019	0	0
OR6F1	343169	broad.mit.edu	37	1	247875336	247875336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:247875336C>A	ENST00000302084.2	-	1	769	c.722G>T	c.(721-723)tGc>tTc	p.C241F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGCGAGGAGCACGTGGAGAA	0.527000													47	325					7.36392e-32	1.18057e-31	0.870114	1	0
PEX12	5193	broad.mit.edu	37	17	33904575	33904575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:33904575G>T	ENST00000225873.4	-	2	769	c.162C>A	c.(160-162)ttC>ttA	p.F54L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	54					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.F54L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCCACAAGAAGCCATAGT	0.373000													54	176					1.31726e-23	2.00367e-23	0.870114	1	0
DUSP27	92235	broad.mit.edu	37	1	167088532	167088532	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:167088532C>A	ENST00000361200.2	+	5	650	c.484C>A	c.(484-486)Cac>Aac	p.H162N	DUSP27_ENST00000271385.5_Missense_Mutation_p.H162N|DUSP27_ENST00000443333.1_Missense_Mutation_p.H162N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	162					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.H162N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAATCACCCACATTCTGAA	0.562000													6	65					0.248553	0.250038	0.248553	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863748	64863748	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:64863748G>A	ENST00000313349.3	-	2	555	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	86					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.F86F(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGAGGGGGTGAACATGGGCC	0.632000													16	61					0	0	0.500413	0	0
GHDC	84514	broad.mit.edu	37	17	40344425	40344425	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:40344425C>T	ENST00000301671.8	-	4	1164	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GHDC_ENST00000436923.2_Silent_p.R241R|GHDC_ENST00000593209.1_Silent_p.R241R|GHDC_ENST00000587427.1_Silent_p.R241R|GHDC_ENST00000428494.2_Silent_p.R202R|GHDC_ENST00000414034.3_Silent_p.R241R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	241						endoplasmic reticulum|nuclear envelope		p.R241R(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTAGGGCCTCCCGGAGCTCAG	0.657000													7	33					0	0	0.361761	0	0
TTN	7273	broad.mit.edu	37	2	179584084	179584084	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:179584084T>C	ENST00000589042.1	-	83	24257	c.24033A>G	c.(24031-24033)tcA>tcG	p.S8011S	TTN_ENST00000591111.1_Silent_p.S7694S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S6767S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7694	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6767S(2)		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)			AAATCGGGGCTGAGCCAGAGA	0.498000													9	194					0	0	0.539581	0	0
BAI3	577	broad.mit.edu	37	6	69349249	69349249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:69349249G>T	ENST00000370598.1	+	3	1503	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	228					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G228C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGACAGAGGGCTGCCTGAC	0.537000													20	74					1.55795e-14	2.05959e-14	0.608945	1	0
HCST	10870	broad.mit.edu	37	19	36393498	36393498	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:36393498G>T	ENST00000246551.4	+	1	117	c.3G>T	c.(1-3)atG>atT	p.M1I	HCST_ENST00000437550.2_Start_Codon_SNP_p.M1I			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	1					regulation of immune response	integral to membrane|plasma membrane		p.M1I(2)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTCCACCATGATCCATCTGG	0.567000													56	321					3.95532e-38	6.4642e-38	0.870114	1	0
GDF5	8200	broad.mit.edu	37	20	34021748	34021748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:34021748G>T	ENST00000374372.1	-	4	1968	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K	GDF5_ENST00000374369.3_Missense_Mutation_p.Q489K|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	489					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.Q489K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCTCATACTGCTTATACACC	0.592000													15	104					1.33986e-20	1.93323e-20	0.681144	1	0
OR2T6	254879	broad.mit.edu	37	1	248551725	248551725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248551725G>T	ENST00000355728.2	+	1	816	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAAAGATAAGGTCTTCTCTG	0.473000													14	117					2.32078e-09	2.77068e-09	0.479597	1	0
TMEM47	83604	broad.mit.edu	37	X	34648523	34648523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:34648523C>A	ENST00000275954.3	-	3	711	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	151						integral to membrane		p.W151C(4)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCCATAACCCCAGTTGAACT	0.423000													12	79					0.0202918	0.0210418	0.457914	1	0
CCDC147	159686	broad.mit.edu	37	10	106124511	106124511	+	Missense_Mutation	SNP	T	T	C	rs144185091	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:106124511T>C	ENST00000369704.3	+	4	595	c.461T>C	c.(460-462)tTc>tCc	p.F154S	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	154								p.F154S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTACTGAGGTTCAAAGAAGAA	0.438000													4	101					0	0	0.217242	0	0
DSC3	1825	broad.mit.edu	37	18	28604459	28604459	+	Splice_Site	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:28604459A>G	ENST00000434452.1	-	6	785	c.630_splice	c.e6-1	p.L211_splice	DSC3_ENST00000360428.4_Splice_Site_p.L211_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	211	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L211L(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAGCAATCAACTGCAAAATA	0.408000													9	67					0	0	0.307466	0	0
NID2	22795	broad.mit.edu	37	14	52507529	52507529	+	Silent	SNP	C	C	G	rs146481572		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:52507529C>G	ENST00000216286.5	-	8	1865	c.1866G>C	c.(1864-1866)ccG>ccC	p.P622P	NID2_ENST00000541773.1_Silent_p.P569P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	622	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.P622P(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTCCTCTCCCGGGTAGAATG	0.478000													60	180					0	0	0.870114	0	0
IL9R	3581	broad.mit.edu	37	X	155234092	155234092	+	Silent	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:155234092G>C	ENST00000424344.3	+	6	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L	IL9R_ENST00000244174.5_Silent_p.L147L|IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor	147					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTTAAGCTGGACCCGCCCT	0.547000													15	78					0	0	0.575678	0	0
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248737350C>G	ENST00000328782.2	-	1	730	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562000													57	447					0	0	0.870114	0	0
RUFY2	55680	broad.mit.edu	37	10	70156631	70156631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:70156631G>T	ENST00000388768.2	-	4	735	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	RUFY2_ENST00000602465.1_Missense_Mutation_p.L102M|RUFY2_ENST00000342616.4_Missense_Mutation_p.L102M|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Missense_Mutation_p.L44M	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	151	RUN.					nucleus	metal ion binding	p.L137M(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCTCGACCCAGAGGGGTCCTA	0.433000													16	66					3.99206e-14	5.22277e-14	0.557998	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921566	178921566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:178921566G>A	ENST00000263967.3	+	5	1205	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	350					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D350N(4)|p.D350H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAATATTCGAGACATTGATAA	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	56					0	0	0.307466	0	0
GALNT7	51809	broad.mit.edu	37	4	174219404	174219404	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:174219404C>T	ENST00000265000.4	+	6	1187	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	368					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T368T(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGCCTCTGACCCCTCAAGAGA	0.443000													9	70					0	0	0.387290	0	0
CSNK1D	1453	broad.mit.edu	37	17	80223565	80223565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:80223565C>T	ENST00000314028.6	-	2	533	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CSNK1D_ENST00000392334.2_Missense_Mutation_p.G62R|CSNK1D_ENST00000398519.5_Missense_Mutation_p.G62R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	62	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G62R(6)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GACCTACCTCCTCCCTGCATC	0.458000													17	172					0	0	0.539581	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555733	125555733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:125555733C>A	ENST00000431078.1	+	19	3414	c.3050C>A	c.(3049-3051)cCt>cAt	p.P1017H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1017	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P1017H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAACCCTATCCTGTGACCAAG	0.443000													7	58					0.27861	0.279718	0.278610	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090685	238090685	+	RNA	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:238090685G>C	ENST00000450451.1	+	0	2191					NR_027247.2																						GGCTGGCAGGGACCTGACAGG	0.622000													8	32					0	0	0.387290	0	0
PKHD1	5314	broad.mit.edu	37	6	51768419	51768419	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:51768419G>C	ENST00000371117.3	-	43	7247	c.6972C>G	c.(6970-6972)atC>atG	p.I2324M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I2324M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2324					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I2324M(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGACTGCAGATATAGATGC	0.453000													97	614					0	0	0.870114	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111896616	111896616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:111896616G>T	ENST00000375741.2	+	9	1238	c.988G>T	c.(988-990)Gta>Tta	p.V330L	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V152L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V152L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V309L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V74L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V152L|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V152L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V237L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V227L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V280L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	330	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.V309L(2)|p.V152L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAATGCTCGTACAGTCTTT	0.313000													13	129					1.45105e-14	1.92331e-14	0.539581	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952637	119952637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:119952637C>T	ENST00000307142.4	+	4	2903	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P903S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P903S|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	903						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.P903S(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTCAGTCTCCCACTCCATC	0.567000													6	98					0	0	0.217242	0	0
TRPM3	80036	broad.mit.edu	37	9	73426112	73426112	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:73426112C>A	ENST00000377106.1	-	7	917	c.563G>T	c.(562-564)tGg>tTg	p.W188L	TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.W188L|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000423814.3_Missense_Mutation_p.W343L|TRPM3_ENST00000360823.2_Missense_Mutation_p.W188L|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.W188L|TRPM3_ENST00000396292.4_Missense_Mutation_p.W188L|TRPM3_ENST00000361823.5_Intron	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	341						integral to membrane	calcium channel activity	p.W188L(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAACTACCCCAAAATGAATA	0.358000													4	26					0.00024832	0.000266245	0.150653	1	0
RALYL	138046	broad.mit.edu	37	8	85774568	85774568	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:85774568C>G	ENST00000521268.1	+	6	1556	c.451C>G	c.(451-453)Cgt>Ggt	p.R151G	RALYL_ENST00000523850.1_Missense_Mutation_p.R78G|RALYL_ENST00000517638.1_Missense_Mutation_p.R164G|RALYL_ENST00000521376.1_Missense_Mutation_p.R62G|RALYL_ENST00000522455.1_Missense_Mutation_p.R151G|RALYL_ENST00000521695.1_Missense_Mutation_p.R151G|RALYL_ENST00000518566.1_Missense_Mutation_p.R140G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							identical protein binding|nucleotide binding|RNA binding	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502000													11	22					0	0	0.435327	0	0
C1orf105	92346	broad.mit.edu	37	1	172437600	172437600	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:172437600T>A	ENST00000367727.4	+	7	616	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.Y130N	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	140								p.Y140N(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AAGCATTCACTACAGACTGCC	0.443000													55	368					0	0	0.870114	0	0
C1orf105	92346	broad.mit.edu	37	1	172437623	172437623	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:172437623C>A	ENST00000367727.4	+	7	639	c.441C>A	c.(439-441)ccC>ccA	p.P147P	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.P137P	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	147								p.P147P(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTCTGGGCCCCAGGACAGCTG	0.443000													54	449					5.62145e-24	8.60252e-24	0.870114	1	0
SLAIN2	57606	broad.mit.edu	37	4	48381849	48381849	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:48381849C>G	ENST00000264313.6	+	4	1264	c.846C>G	c.(844-846)gcC>gcG	p.A282A	SLAIN2_ENST00000512093.1_Silent_p.A89A	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	282						centrosome		p.A282A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGATTCTAGCCCGGATGCAGG	0.308000													44	252					0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141708386	141708386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:141708386G>A	ENST00000475668.2	+	3	262	c.208G>A	c.(208-210)Gct>Act	p.A70T	MGAM_ENST00000549489.2_Missense_Mutation_p.A70T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	70	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A70T(8)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCACACATGCTAGGACAAC	0.498000													26	116					0	0	0.740014	0	0
ZNF479	90827	broad.mit.edu	37	7	57188289	57188289	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:57188289A>T	ENST00000331162.4	-	5	1103	c.833T>A	c.(832-834)tTt>tAt	p.F278Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F278Y(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGAGCGCCTAAAGGCTTGGCC	0.458000													6	73					0	0	0.248553	0	0
TSIX	9383	broad.mit.edu	37	X	73042079	73042079	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:73042079G>T	ENST00000604411.1	+	0	30040				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTATTATAAGGAGAGTTCCTG	0.453000													20	50					1.00905e-13	1.30324e-13	0.575678	1	0
REST	5978	broad.mit.edu	37	4	57796165	57796165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:57796165G>C	ENST00000309042.7	+	4	1455	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	381					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.E381Q(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAACATGTAGAGCTACATGT	0.428000													48	218					0	0	0.870114	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952305	95952305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:95952305G>C	ENST00000342697.4	-	3	663	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	TP53INP1_ENST00000448464.2_Missense_Mutation_p.Q86E|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Missense_Mutation_p.Q86E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	86					apoptosis	PML body		p.Q86E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GACTCAAACTGGAGAAAGCAG	0.473000													16	95					0	0	0.539581	0	0
GRM7	2917	broad.mit.edu	37	3	7348280	7348280	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:7348280A>G	ENST00000486284.1	+	4	1248	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	GRM7_ENST00000389336.4_Missense_Mutation_p.Q325R|GRM7_ENST00000357716.4_Missense_Mutation_p.Q325R|GRM7_ENST00000403881.1_Missense_Mutation_p.Q325R|GRM7_ENST00000402647.2_Missense_Mutation_p.Q325R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	325					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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.Q325R(2)		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)	CCACTGCACCAGCATGAAGAT	0.517000													24	102					0	0	0.639603	0	0
CDH6	1004	broad.mit.edu	37	5	31322949	31322949	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:31322949T>A	ENST00000265071.2	+	12	2172	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L636Q(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTGCAGCTCTGAGGCGGCAG	0.448000													42	170					0	0	0.870114	0	0
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408000													38	231					0	0	0.834066	0	0
MAT1A	4143	broad.mit.edu	37	10	82043734	82043734	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:82043734A>T	ENST00000372213.3	-	3	490	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	77					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.V77E(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGGTAGTCCACCATGGCCAT	0.592000													18	80					0	0	0.575678	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862065	128862065	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:128862065G>C	ENST00000274487.4	+	4	1129	c.984G>C	c.(982-984)gaG>gaC	p.E328D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	328	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E328D(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAACATAGAGACTGTAGTGG	0.393000													12	138					0	0	0.457914	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10408756G>T	ENST00000226207.5	-	20	2341	c.2247C>A	c.(2245-2247)ctC>ctA	p.L749L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACCCCAGGAGCTTCTCTG	0.403000													17	182					2.94398e-08	3.4256e-08	0.557998	1	0
LRRC8C	84230	broad.mit.edu	37	1	90179864	90179864	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:90179864C>T	ENST00000370454.4	+	3	1990	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	579						endoplasmic reticulum membrane|integral to membrane		p.L579L(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGCACCAAGCTGGTGATGCT	0.463000													30	220					0	0	0.750413	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005823	118005823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:118005823C>T	ENST00000310754.4	-	1	913	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	243	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D243N(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TACTTTTCATCACTAAAGTAA	0.388000													12	69					0	0	0.411799	0	0
PTGER3	5733	broad.mit.edu	37	1	71512437	71512437	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:71512437C>T	ENST00000370924.4	-	1	1054	c.824G>A	c.(823-825)cGc>cAc	p.R275H	PTGER3_ENST00000354608.5_Missense_Mutation_p.R275H|PTGER3_ENST00000306666.5_Missense_Mutation_p.R275H|PTGER3_ENST00000370932.2_Missense_Mutation_p.R275H|PTGER3_ENST00000460330.1_Missense_Mutation_p.R275H|PTGER3_ENST00000356595.4_Missense_Mutation_p.R275H|PTGER3_ENST00000351052.5_Missense_Mutation_p.R275H|PTGER3_ENST00000414819.1_Missense_Mutation_p.R275H|PTGER3_ENST00000370931.3_Missense_Mutation_p.R275H	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	275					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.R275H(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGTCGTGATGCGGCCCCACTG	0.622000													3	53					0	0	0.150653	0	0
ENPP7	339221	broad.mit.edu	37	17	77710992	77710992	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:77710992G>A	ENST00000328313.5	+	4	1400	c.1179G>A	c.(1177-1179)cgG>cgA	p.R393R		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	393					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATGTGCCGGCTGCTGGGCA	0.647000													3	29					0	0	0.115264	0	0
FLVCR2	55640	broad.mit.edu	37	14	76108196	76108196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:76108196G>C	ENST00000238667.4	+	9	1820	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	FLVCR2_ENST00000539311.1_Missense_Mutation_p.K283N|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.K203N|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	488					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.K488N(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATTCATTAAGGCAGATCTCC	0.433000													29	227					0	0	0.796494	0	0
ZNF536	9745	broad.mit.edu	37	19	30936620	30936620	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:30936620C>A	ENST00000355537.3	+	2	2298	c.2151C>A	c.(2149-2151)ccC>ccA	p.P717P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P717P(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCGCACCCCTCCTCGCCAT	0.682000													8	31					0.00448238	0.00470603	0.307466	1	0
FHOD3	80206	broad.mit.edu	37	18	34324149	34324149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:34324149C>A	ENST00000257209.4	+	20	3631	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	FHOD3_ENST00000592128.1_Nonsense_Mutation_p.S149*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S1345*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S1153*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S1132*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1153	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S1170*(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCACCAGGTCAGCCAAGGTA	0.562000													37	278					1.6237e-14	2.14091e-14	0.864702	1	0
ATP11C	286410	broad.mit.edu	37	X	138825775	138825775	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:138825775T>C	ENST00000370557.1	-	26	3991	c.2964A>G	c.(2962-2964)ggA>ggG	p.G988G	ATP11C_ENST00000370543.1_Silent_p.G994G|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Silent_p.G994G|ATP11C_ENST00000359686.2_Silent_p.G994G|ATP11C_ENST00000361648.2_Silent_p.G994G			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	994					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G994G(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGTCCAGTTTCCGTATACCT	0.264000													5	16					0	0	0.248553	0	0
SCD5	79966	broad.mit.edu	37	4	83626448	83626448	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:83626448G>A	ENST00000319540.4	-	2	670	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCD5_ENST00000282709.4_Silent_p.S117S|SCD5_ENST00000273908.4_Silent_p.S117S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	117					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.S117S(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAAAGCCATGGAGTTGGCGA	0.607000													13	89					0	0	0.520397	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303752	46303752	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:46303752A>G	ENST00000221538.3	-	5	2010	c.1868T>C	c.(1867-1869)gTt>gCt	p.V623A	RSPH6A_ENST00000597055.1_Missense_Mutation_p.V623A|RSPH6A_ENST00000600188.1_Missense_Mutation_p.V359A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	623	Glu-rich.					intracellular		p.V623A(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGAGCGCACAACGGCCACTGA	0.637000													4	22					0	0	0.184627	0	0
LRRC6	23639	broad.mit.edu	37	8	133637568	133637568	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:133637568C>A	ENST00000519595.1	-	6	884	c.786G>T	c.(784-786)ttG>ttT	p.L262F	LRRC6_ENST00000250173.1_Missense_Mutation_p.L262F|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.L262F			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	262						cytoplasm		p.L262F(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAAGAGTTTCCAATCTTGATT	0.383000													61	243					3.6896e-23	5.57859e-23	0.870114	1	0
TFDP3	51270	broad.mit.edu	37	X	132351141	132351141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:132351141G>T	ENST00000310125.4	-	1	1235	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P383T(2)|p.P323T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCGACTGCTGGGGTCTCCACC	0.562000													63	152					3.36522e-66	5.7028e-66	0.870114	1	0
PASD1	139135	broad.mit.edu	37	X	150841089	150841089	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:150841089C>G	ENST00000370357.4	+	14	2117	c.1872C>G	c.(1870-1872)ttC>ttG	p.F624L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	624						nucleus	signal transducer activity	p.F624L(4)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCTTCTATCAAGATG	0.473000													45	111					0	0	0.870114	0	0
DNAH9	1770	broad.mit.edu	37	17	11520764	11520764	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:11520764T>C	ENST00000262442.3	+	5	1009	c.941T>C	c.(940-942)aTa>aCa	p.I314T	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.I314T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	314	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I314T(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCACCTGATACCGCTCCAG	0.587000													7	38					0	0	0.278610	0	0
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:107973450A>C	ENST00000370068.1	+	6	2012	c.1166A>C	c.(1165-1167)cAc>cCc	p.H389P	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.H389P|NTNG1_ENST00000370072.3_Missense_Mutation_p.H389P|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453000													6	66					0	0	0.217242	0	0
CCDC57	284001	broad.mit.edu	37	17	80151915	80151915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:80151915C>A	ENST00000389641.4	-	5	755	c.719G>T	c.(718-720)aGg>aTg	p.R240M	CCDC57_ENST00000392347.1_Missense_Mutation_p.R240M|CCDC57_ENST00000392343.3_Missense_Mutation_p.R240M			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	240								p.R240M(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGGAGCTTCCTCTCCAGCTC	0.652000													12	29					3.27435e-08	3.78386e-08	0.457914	1	0
DNAI2	64446	broad.mit.edu	37	17	72297289	72297289	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:72297289G>A	ENST00000579490.1	+	7	1275	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	DNAI2_ENST00000311014.6_Silent_p.L323L|DNAI2_ENST00000446837.2_Silent_p.L323L|DNAI2_ENST00000582036.1_Silent_p.L323L|DNAI2_ENST00000307504.5_Silent_p.L180L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	323					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.L323L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCATCTCCCTGGAGTTCGAAT	0.527000									Kartagener syndrome				50	192					0	0	0.870114	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111929984	111929984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:111929984G>C	ENST00000375741.2	+	14	1783	c.1533G>C	c.(1531-1533)ttG>ttC	p.L511F	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L333F|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L333F|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L490F|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L255F|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L333F|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.L167F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L333F|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L418F|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L408F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L461F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	511	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L333F(2)|p.L490F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTAATGTTGTCTGCCAGTC	0.294000													10	82					0	0	0.500413	0	0
MUC5B	727897	broad.mit.edu	37	11	1271072	1271072	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:1271072C>A	ENST00000447027.1	+	31	13029	c.12971C>A	c.(12970-12972)aCc>aAc	p.T4324N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4321N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4321	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4321N(2)|p.T4276N(2)		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)		TCCACAGCTACCAGCGTTACA	0.607000													4	47					0.00024832	0.000266245	0.150653	1	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:127727777T>A	ENST00000508053.1	-	17	2511	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_ENST00000508989.1_Missense_Mutation_p.T480S|FBN2_ENST00000262464.4_Missense_Mutation_p.T513S			P35556	FBN2_HUMAN	fibrillin 2	513	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T513S(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGAGACAGTTGGTATACAG	0.348000													55	121					0	0	0.870114	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239224	160239224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:160239224G>A	ENST00000392783.2	-	25	4346	c.3851C>T	c.(3850-3852)cCc>cTc	p.P1284L	BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1250L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1248L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1184L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P1284L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCTGGAGTGGGTGTGCCCAA	0.468000													9	66					0	0	0.361761	0	0
SEH1L	81929	broad.mit.edu	37	18	12971215	12971215	+	Silent	SNP	C	C	T	rs142041554	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:12971215C>T	ENST00000262124.11	+	5	712	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SEH1L_ENST00000399892.2_Silent_p.A195A	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	195					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		p.A195A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						ACGCAATGGCCAAGGTTCAGA	0.373000													4	72					0	0	0.184627	0	0
ITGAX	3687	broad.mit.edu	37	16	31391186	31391186	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31391186G>T	ENST00000268296.4	+	25	3097		c.e25+1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCAGGTACCCAAGGA	0.587000													7	25					2.17888e-05	2.38167e-05	0.335167	1	0
ANGEL1	23357	broad.mit.edu	37	14	77273815	77273815	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:77273815G>A	ENST00000251089.2	-	4	1019	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	303								p.H303Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCAGTAATGATCTTCCTGG	0.522000													15	74					0	0	0.608945	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632830	28632830	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:28632830G>A	ENST00000526619.2	+	14	1771	c.756G>A	c.(754-756)agG>agA	p.R252R	GOLGA8F_ENST00000450328.2_Silent_p.R248R|GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000532622.2_Silent_p.R466R														p.R466R(2)		lung(4)	4						TGGAGAGCAGGGAGGCCATGG	0.602000													17	241					0	0	0.760397	0	0
NSRP1	84081	broad.mit.edu	37	17	28511912	28511912	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:28511912T>G	ENST00000247026.5	+	7	960	c.897T>G	c.(895-897)agT>agG	p.S299R	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	299	His-rich.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	p.S299R(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAGGGCACAGTACCAGGCACC	0.498000													30	147					0	0	0.779181	0	0
CCDC178	374864	broad.mit.edu	37	18	30791950	30791950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:30791950C>G	ENST00000383096.3	-	20	2330	c.2148G>C	c.(2146-2148)gaG>gaC	p.E716D	CCDC178_ENST00000579947.1_Missense_Mutation_p.E716D|CCDC178_ENST00000403303.1_Missense_Mutation_p.E716D|CCDC178_ENST00000406524.2_Missense_Mutation_p.E716D|CCDC178_ENST00000583930.1_Missense_Mutation_p.E716D|CCDC178_ENST00000300227.8_Missense_Mutation_p.E678D|CCDC178_ENST00000402325.1_Missense_Mutation_p.E716D|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178									p.E716D(2)|p.E678D(2)									AGTCTTTTTTCTCTTGCATAT	0.343000													11	53					0	0	0.435327	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554394	140554394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:140554394G>C	ENST00000231137.3	+	1	2152	c.1978G>C	c.(1978-1980)Gtg>Ctg	p.V660L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V660L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.711000													5	60					0	0	0.435327	0	0
CSDE1	7812	broad.mit.edu	37	1	115267878	115267878	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:115267878T>C	ENST00000438362.2	-	15	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	CSDE1_ENST00000358528.4_Missense_Mutation_p.K573E|CSDE1_ENST00000261443.5_Missense_Mutation_p.K542E|CSDE1_ENST00000369530.1_Missense_Mutation_p.K588E|CSDE1_ENST00000339438.6_Missense_Mutation_p.K542E|CSDE1_ENST00000534699.1_Missense_Mutation_p.K573E|CSDE1_ENST00000530886.1_Missense_Mutation_p.K443E	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	573	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.K573E(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GCACTGACTTTGTTGCCTTTG	0.413000													27	426					0	0	0.729181	0	0
ATR	545	broad.mit.edu	37	3	142188251	142188251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:142188251C>G	ENST00000350721.4	-	38	6601	c.6480G>C	c.(6478-6480)ttG>ttC	p.L2160F	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.L2096F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2160	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L2160F(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTATTTCCATCAAGACAACAA	0.348000								Other conserved DNA damage response genes					38	298					0	0	0.870114	0	0
PTPRD	5789	broad.mit.edu	37	9	8465591	8465591	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:8465591C>A	ENST00000381196.4	-	29	4132	c.3589G>T	c.(3589-3591)Gat>Tat	p.D1197Y	PTPRD_ENST00000356435.5_Missense_Mutation_p.D1197Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.D786Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1184Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D783Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1175Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D786Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D783Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1197Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.D776Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1197					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1197Y(4)|p.D668Y(2)|p.D786Y(2)		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)		GGAAGGACATCAAAGTGAGCG	0.423000										TSP Lung(15;0.13)			63	300					3.8128e-34	6.19121e-34	0.870114	1	0
OR4C3	256144	broad.mit.edu	37	11	48347153	48347153	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:48347153G>A	ENST00000319856.4	+	1	682	c.661G>A	c.(661-663)Ggt>Agt	p.G221S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G221S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTATGTCATTGGTCTGCTGGT	0.507000													49	245					0	0	0.870114	0	0
KNDC1	85442	broad.mit.edu	37	10	135024994	135024994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:135024994G>T	ENST00000304613.3	+	22	3998	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	KNDC1_ENST00000368572.2_Missense_Mutation_p.W1328L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1326	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.W1326L(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGCAGGCCTGGGTGGAGGAC	0.647000													13	46					1.49906e-05	1.65289e-05	0.457914	1	0
IFI16	3428	broad.mit.edu	37	1	158988299	158988299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158988299C>A	ENST00000295809.7	+	5	1085	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	IFI16_ENST00000368132.3_Missense_Mutation_p.S277Y|IFI16_ENST00000340979.6_Missense_Mutation_p.S277Y|IFI16_ENST00000359709.3_Missense_Mutation_p.S221Y|IFI16_ENST00000448393.2_Missense_Mutation_p.S277Y|IFI16_ENST00000368131.4_Missense_Mutation_p.S277Y|IFI16_ENST00000430894.2_Missense_Mutation_p.S225Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	277	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.S277Y(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AATGAAGAATCTACTGTATCT	0.343000													16	115					1.67942e-08	1.96776e-08	0.539581	1	0
SYDE2	84144	broad.mit.edu	37	1	85648858	85648858	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:85648858A>G	ENST00000341460.5	-	3	1516	c.1467T>C	c.(1465-1467)aaT>aaC	p.N489N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	489					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.N489N(2)|p.N411N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCAGTACTATTTGTAGCAG	0.318000													14	131					0	0	0.557998	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543774	54543774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:54543774C>G	ENST00000566473.2	+	14	1624	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.H542D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	542								p.H542D(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAAGATCGACATGGAAACAT	0.403000													28	199					0	0	0.788014	0	0
MACROD2	140733	broad.mit.edu	37	20	14066278	14066278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:14066278C>T	ENST00000217246.4	+	3	570	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.Q59*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	59	Macro.							p.Q59*(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAAATACTCAGGAAACATC	0.318000													11	33					0	0	0.411799	0	0
CELSR2	1952	broad.mit.edu	37	1	109812142	109812142	+	Silent	SNP	G	G	A	rs150014940		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:109812142G>A	ENST00000271332.3	+	21	6970	c.6909G>A	c.(6907-6909)acG>acA	p.T2303T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2303					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.T2303T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCCGTCACGGTGCAGTTCC	0.607000													14	52					0	0	0.457914	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31384649G>T	ENST00000268296.4	+	20	2567	c.2446G>T	c.(2446-2448)Gga>Tga	p.G816*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.G816*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACTCCTACGGAACCACCAT	0.607000													21	136					2.79863e-10	3.39738e-10	0.681144	1	0
NAA16	79612	broad.mit.edu	37	13	41892955	41892955	+	Missense_Mutation	SNP	G	G	C	rs143056243	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:41892955G>C	ENST00000379406.3	+	3	477	c.153G>C	c.(151-153)atG>atC	p.M51I	NAA16_ENST00000403412.3_Missense_Mutation_p.M51I|NAA16_ENST00000379367.3_Missense_Mutation_p.M51I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	51					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.M51I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTTTGGCTATGAAAGGATTAA	0.294000													14	71					0	0	0.457914	0	0
CCL14	6358	broad.mit.edu	37	17	34310883	34310883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:34310883C>A	ENST00000480944.2	-	2	2708	c.302G>T	c.(301-303)aGt>aTt	p.S101I	CTB-186H2.3_ENST00000593057.1_Intron|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000536149.1_Missense_Mutation_p.S95I|CCL14_ENST00000394509.4_Missense_Mutation_p.S79I|CCL14_ENST00000435911.2_Missense_Mutation_p.S95I|CCL14_ENST00000586216.1_3'UTR			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	79					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.S79I(2)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTTGTCACTGGGGTTGGT	0.547000													16	207					1.15919e-05	1.2894e-05	0.575678	1	0
COL4A6	1288	broad.mit.edu	37	X	107447623	107447623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:107447623C>G	ENST00000334504.7	-	12	940	c.707G>C	c.(706-708)gGc>gCc	p.G236A	COL4A6_ENST00000538570.1_Missense_Mutation_p.G236A|COL4A6_ENST00000394872.2_Missense_Mutation_p.G234A|COL4A6_ENST00000545689.1_Missense_Mutation_p.G236A|COL4A6_ENST00000372216.4_Missense_Mutation_p.G237A	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	237	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G236A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGCTGGGCCAGGGAGGCC	0.478000									Alport syndrome with Diffuse Leiomyomatosis				16	44					0	0	0.608945	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319215	154319215	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:154319215C>T	ENST00000368489.3	+	26	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1067					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1081P(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGTTTCCCAACCAGTTCC	0.517000													61	300					0	0	0.870114	0	0
TFDP3	51270	broad.mit.edu	37	X	132351139	132351139	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:132351139T>C	ENST00000310125.4	-	1	1237	c.1149A>G	c.(1147-1149)ccA>ccG	p.P383P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P323P(2)|p.P383P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCGACTGCTGGGGTCTCCA	0.562000													63	153					0	0	0.870114	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479746	12479746	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:12479746C>G	ENST00000409402.4	-	10	1623	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	SPIRE1_ENST00000309836.5_Missense_Mutation_p.K241N|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K318N|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Missense_Mutation_p.K279N|SPIRE1_ENST00000410092.3_Missense_Mutation_p.K438N	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	452						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.K279N(2)|p.K452N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTCTGAGGAGCTTCTTCCGCT	0.517000													21	122					0	0	0.575678	0	0
SYPL2	284612	broad.mit.edu	37	1	110019410	110019410	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:110019410C>A	ENST00000369872.3	+	4	483	c.267C>A	c.(265-267)atC>atA	p.I89I	SYPL2_ENST00000401021.3_Silent_p.I89I|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	89	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.I89I(2)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCACCGGATCCAATATGAGA	0.592000													14	68					1.49906e-05	1.65289e-05	0.457914	1	0
STARD10	10809	broad.mit.edu	37	11	72492187	72492187	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:72492187G>A	ENST00000334805.6	-	2	959	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	STARD10_ENST00000543304.1_Missense_Mutation_p.R14W|STARD10_ENST00000538536.1_Missense_Mutation_p.R14W|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000545082.1_Missense_Mutation_p.R14W	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	14	START.							p.R14W(2)		endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGACCGGCCGAGGCCCTTGG	0.667000													7	25					0	0	0.248553	0	0
DHTKD1	55526	broad.mit.edu	37	10	12136268	12136268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:12136268C>G	ENST00000263035.4	+	7	1418	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	452					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I452M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACAAAATCATCAGGTACAATT	0.408000													6	76					0	0	0.335167	0	0
NCKAP5	344148	broad.mit.edu	37	2	133887593	133887593	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:133887593G>T	ENST00000409261.1	-	6	671	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	NCKAP5_ENST00000409213.1_Missense_Mutation_p.R100S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R100S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R100S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	100							protein binding	p.R100S(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATTCTGTTGCGTTCAGACTCT	0.478000													4	78					0.150653	0.153387	0.150653	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121608168	121608168	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:121608168T>C	ENST00000393386.2	+	3	699	c.288T>C	c.(286-288)caT>caC	p.H96H	PTPRZ1_ENST00000449182.1_Silent_p.H96H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	96	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.H96H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATTCATTCATAACACTGGGA	0.303000													29	109					0	0	0.788014	0	0
USP9X	8239	broad.mit.edu	37	X	41064746	41064746	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:41064746G>T	ENST00000324545.7	+	32	5648	c.5015_splice	c.e32+1	p.R1672_splice	USP9X_ENST00000378308.2_Splice_Site_p.R1672_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1672					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.R1672M(2)|p.R1665M(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACAGTTCAGGTAAACTATG	0.373000													86	189					7.30829e-53	1.23023e-52	0.870114	1	0
GFI1	2672	broad.mit.edu	37	1	92948493	92948493	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:92948493C>T	ENST00000370332.1	-	3	544	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GFI1_ENST00000294702.5_Missense_Mutation_p.E76K|GFI1_ENST00000427103.1_Missense_Mutation_p.E76K	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	76				DSCEG -> RQLRS (in Ref. 1; AAB37272).	negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E76K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		ACGCTGCCTTCGCAGCTGTCT	0.662000													11	19					0	0	0.387290	0	0
DOCK2	1794	broad.mit.edu	37	5	169506137	169506137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:169506137C>A	ENST00000256935.8	+	49	5233	c.5153C>A	c.(5152-5154)tCg>tAg	p.S1718*	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.S1210*|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.S779*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1718					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1718*(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCAGAGTCGGACCTGAAG	0.567000													3	10					0.000602214	0.0006416	0.184627	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373000													15	63					0	0	0.539581	0	0
PDSS2	57107	broad.mit.edu	37	6	107531724	107531724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:107531724C>G	ENST00000369037.4	-	6	1204	c.927G>C	c.(925-927)atG>atC	p.M309I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.M309I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GATTAAAAGTCATGGAGTCAC	0.328000													4	30					0	0	0.150653	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667813	106667813	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:106667813G>T	ENST00000390606.2	-	0	180																											GGCTGCACAGGAGAGTCTCAG	0.572000													40	279					1.62263e-30	2.57681e-30	0.870114	1	0
SLC7A7	9056	broad.mit.edu	37	14	23242826	23242826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:23242826G>T	ENST00000397532.3	-	10	2054	c.1529C>A	c.(1528-1530)tCt>tAt	p.S510Y	SLC7A7_ENST00000397529.2_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S244Y|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S510Y|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S510Y			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	510					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.S510Y(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TGTTTAGTTAGATTTGGGATC	0.488000													36	111					7.53189e-24	1.14913e-23	0.834066	1	0
ITPR1	3708	broad.mit.edu	37	3	4748018	4748018	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:4748018A>C	ENST00000354582.6	+	37	5175	c.4825A>C	c.(4825-4827)Atc>Ctc	p.I1609L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.I1600L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I1594L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I1585L|ITPR1_ENST00000443694.2_Missense_Mutation_p.I1594L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I1600L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1609					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.I1585L(2)|p.I1600L(2)|p.I1594L(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTACCGGAATATCATTGAGAG	0.542000													15	67					0	0	0.479597	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878986	24878986	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:24878986A>T	ENST00000382554.3	+	4	2304	c.1986A>T	c.(1984-1986)gcA>gcT	p.A662A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	662					DNA integration	integral to membrane	DNA binding	p.A662A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTTCCAAAGCACCTGCAGCTC	0.562000													7	31					0	0	0.307466	0	0
SYN3	8224	broad.mit.edu	37	22	32934062	32934062	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:32934062T>C	ENST00000358763.2	-	9	1194	c.952A>G	c.(952-954)Aca>Gca	p.T318A	SYN3_ENST00000332840.5_Missense_Mutation_p.T318A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	318	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T318A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGAGCCTGTGTTGGCCTTC	0.527000													47	286					0	0	0.870114	0	0
GFRA3	2676	broad.mit.edu	37	5	137593429	137593429	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:137593429C>A	ENST00000274721.3	-	4	930	c.684G>T	c.(682-684)ggG>ggT	p.G228G	GFRA3_ENST00000378362.3_Silent_p.G197G	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	228					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGCGCTCCCCGCAGCCCC	0.706000													11	19					5.50884e-06	6.16843e-06	0.411799	1	0
SPTBN5	51332	broad.mit.edu	37	15	42150888	42150888	+	Missense_Mutation	SNP	G	G	A	rs890503	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:42150888G>A	ENST00000320955.6	-	49	8365	c.8138C>T	c.(8137-8139)aCa>aTa	p.T2713I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.T2713I(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCATGGCTGTGTCCAGCAA	0.632000													3	7					0	0	0.150653	0	0
KRBA1	84626	broad.mit.edu	37	7	149419947	149419947	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:149419947G>T	ENST00000255992.10	+	7	1071	c.672G>T	c.(670-672)cgG>cgT	p.R224R	KRBA1_ENST00000319551.8_Silent_p.R224R|KRBA1_ENST00000485033.2_Silent_p.R224R|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	224								p.R224R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCCCCGGCACCCCGAGA	0.637000													10	49					1.61879e-10	1.9842e-10	0.411799	1	0
MMP16	4325	broad.mit.edu	37	8	89053922	89053922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:89053922C>A	ENST00000286614.6	-	10	1872	c.1591G>T	c.(1591-1593)Ggc>Tgc	p.G531C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	531	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G531C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATCACAGCCCATAAAATCC	0.428000													61	180					7.73544e-29	1.21695e-28	0.870114	1	0
CNGA4	1262	broad.mit.edu	37	11	6262724	6262724	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:6262724T>A	ENST00000379936.2	+	5	1096	c.981T>A	c.(979-981)ccT>ccA	p.P327P	CNGA4_ENST00000533426.1_Silent_p.P96P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	327					response to stimulus|sensory perception of smell		cAMP binding	p.P327P(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTTGCCTGAGCGGCTGC	0.562000													75	402					0	0	0.870114	0	0
USP32	84669	broad.mit.edu	37	17	58256678	58256678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:58256678C>A	ENST00000300896.4	-	34	4947	c.4753G>T	c.(4753-4755)Gac>Tac	p.D1585Y	USP32_ENST00000592339.1_Missense_Mutation_p.D1255Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1585					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D1585Y(2)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTTGTGTCTGCCATCTTT	0.448000													48	148					3.48956e-15	4.68677e-15	0.870114	1	0
PRKG2	5593	broad.mit.edu	37	4	82096115	82096115	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:82096115T>A	ENST00000395578.1	-	3	578		c.e3-2		PRKG2_ENST00000264399.1_Splice_Site|PRKG2_ENST00000418486.2_Splice_Site|RP11-100N20.1_ENST00000512502.1_RNA|RP11-100N20.1_ENST00000505175.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II						platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.?(4)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTCTTCTCACTGGTATAATGG	0.318000													33	199					0	0	0.796494	0	0
LOC645752	645752	broad.mit.edu	37	15	78213768	78213768	+	RNA	SNP	C	C	A	rs12904130	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:78213768C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGCGGCCAGCCAGATCCTTGG	0.542000													3	21					0.115264	0.11807	0.115264	1	0
MICAL2	9645	broad.mit.edu	37	11	12244189	12244189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:12244189C>T	ENST00000256194.4	+	11	1636	c.1348C>T	c.(1348-1350)Cag>Tag	p.Q450*	MICAL2_ENST00000527546.1_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.Q450*|MICAL2_ENST00000537344.1_Nonsense_Mutation_p.Q450*	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	450						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.Q450*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCTGTTACCTCAGACAACCCC	0.567000													6	82					0	0	0.217242	0	0
MUC16	94025	broad.mit.edu	37	19	9049935	9049935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:9049935C>G	ENST00000397910.4	-	5	31899	c.31696G>C	c.(31696-31698)Gag>Cag	p.E10566Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10568	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10566Q(2)|p.E6199Q(2)		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						GCTGTGGTCTCTGATTCTCTA	0.488000													88	519					0	0	0.870114	0	0
MGAT4A	11320	broad.mit.edu	37	2	99261914	99261914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:99261914T>C	ENST00000393487.1	-	9	1179	c.866A>G	c.(865-867)gAg>gGg	p.E289G	MGAT4A_ENST00000264968.2_Missense_Mutation_p.E289G|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E289G|MGAT4A_ENST00000414521.2_Missense_Mutation_p.E161G	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	289					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.E289G(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTGGGAAAACTCTAGAATCAT	0.323000													5	77					0	0	0.248553	0	0
COL4A6	1288	broad.mit.edu	37	X	107418937	107418937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:107418937C>A	ENST00000334504.7	-	29	3010	c.2777G>T	c.(2776-2778)gGa>gTa	p.G926V	COL4A6_ENST00000538570.1_Missense_Mutation_p.G926V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G927V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G926V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G927V	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	927	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G926V(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCAGTTGATCCTGGAATTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				6	27					0.217242	0.220296	0.217242	1	0
MMP20	9313	broad.mit.edu	37	11	102464323	102464323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:102464323G>T	ENST00000260228.2	-	8	1106	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	365	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P365H(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGTAGTGGGGACCTGAAAA	0.418000													28	143					1.08312e-15	1.47036e-15	0.740014	1	0
HIPK2	28996	broad.mit.edu	37	7	139259969	139259969	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:139259969C>A	ENST00000406875.3	-	14	3125	c.3031G>T	c.(3031-3033)Ggt>Tgt	p.G1011C	HIPK2_ENST00000428878.2_Missense_Mutation_p.G984C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1011	Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.G1011C(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAGAGTGACCGCTGGTGGAG	0.607000													3	6					0.004672	0.00487471	0.115264	1	0
PID1	55022	broad.mit.edu	37	2	230020666	230020666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:230020666C>A	ENST00000392054.3	-	3	477	c.138G>T	c.(136-138)atG>atT	p.M46I	PID1_ENST00000409462.1_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.M48I|PID1_ENST00000392055.3_Missense_Mutation_p.M15I|PID1_ENST00000482518.2_5'UTR	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	48						cytoplasm		p.M46I(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TAGACTTCAGCATGGTCTGAA	0.438000													32	242					5.71845e-15	7.63973e-15	0.812448	1	0
PPP1R7	5510	broad.mit.edu	37	2	242092932	242092932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:242092932G>T	ENST00000234038.6	+	2	568	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	PPP1R7_ENST00000406106.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G32W|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000401987.1_Intron	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	32						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.G32W(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGATGAAGAAGGGAAGAAACA	0.547000													18	134					6.94344e-10	8.34866e-10	0.539581	1	0
COL22A1	169044	broad.mit.edu	37	8	139628254	139628254	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:139628254G>C	ENST00000303045.6	-	55	4360	c.3914C>G	c.(3913-3915)cCa>cGa	p.P1305R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1285R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1305	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1305R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATCTTTTCCTGGTAACCCTTC	0.567000										HNSCC(7;0.00092)			19	85					0	0	0.592651	0	0
COG5	10466	broad.mit.edu	37	7	107013135	107013135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:107013135C>T	ENST00000393603.2	-	8	1104	c.833G>A	c.(832-834)aGt>aAt	p.S278N	COG5_ENST00000297135.3_Missense_Mutation_p.S278N|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.S278N	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	278					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.S278N(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCCACAACACTGGTAATAGT	0.398000													36	176					0	0	0.834066	0	0
LRRK2	120892	broad.mit.edu	37	12	40689416	40689416	+	Silent	SNP	A	A	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:40689416A>C	ENST00000298910.7	+	23	3124	c.3066A>C	c.(3064-3066)gcA>gcC	p.A1022A	LRRK2_ENST00000343742.2_Silent_p.A1022A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1022					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A1022A(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGAATGCACTCACGAGCT	0.348000													9	121					0	0	0.361761	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:63010527C>G	ENST00000439174.2	-	4	1227	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	GNA13_ENST00000541118.1_Missense_Mutation_p.E233Q	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	328					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000													15	162					0	0	0.539581	0	0
NOL6	65083	broad.mit.edu	37	9	33467207	33467207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:33467207C>A	ENST00000379471.2	-	14	1866	c.1779G>T	c.(1777-1779)caG>caT	p.Q593H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.Q541H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	593					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.Q593H(2)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGCTCCGTCCTGGAAACGCC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					0.248553	0.250038	0.248553	1	0
OR11H4	390442	broad.mit.edu	37	14	20711267	20711267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:20711267G>T	ENST00000315409.2	+	1	370	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCATTTTCTGGGTGCTTCCTC	0.453000													72	172					6.47592e-44	1.06874e-43	0.870114	1	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185390	32185390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:32185390C>A	ENST00000329621.4	-	1	180	c.149G>T	c.(148-150)gGg>gTg	p.G50V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						GCCGAAAGCCCCACAGCCGTT	0.562000													20	182					1.01871e-10	1.25782e-10	0.575678	1	0
KPNB1	3837	broad.mit.edu	37	17	45755523	45755523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:45755523C>G	ENST00000290158.4	+	18	2622	c.2215C>G	c.(2215-2217)Ctt>Gtt	p.L739V	KPNB1_ENST00000537679.1_Missense_Mutation_p.L523V|KPNB1_ENST00000535458.2_Missense_Mutation_p.L594V|KPNB1_ENST00000540627.1_Missense_Mutation_p.L594V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	739					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.L739V(2)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTGAATACTCTTCAGCAGGC	0.438000													25	269					0	0	0.717897	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097635	38097635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:38097635G>T	ENST00000261439.4	+	14	2677	c.2322G>T	c.(2320-2322)tgG>tgT	p.W774C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.W868C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	774						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTACAGTGTGGGAAAAGATGC	0.408000													36	236					6.57855e-14	8.56228e-14	0.847076	1	0
ROBO2	6092	broad.mit.edu	37	3	75986693	75986693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:75986693C>T	ENST00000487694.3	+	2	328	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P17S(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACATGGGCTCCGGGACTGTT	0.458000													8	82					0	0	0.361761	0	0
TBC1D16	125058	broad.mit.edu	37	17	77925310	77925310	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:77925310T>A	ENST00000310924.2	-	5	1143	c.1028A>T	c.(1027-1029)gAc>gTc	p.D343V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	343						intracellular	Rab GTPase activator activity	p.D343V(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGACAGCTTGTCCAGGCCGCC	0.612000													8	61					0	0	0.361761	0	0
ACER2	340485	broad.mit.edu	37	9	19424744	19424744	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:19424744G>T	ENST00000340967.2	+	3	296	c.270G>T	c.(268-270)caG>caT	p.Q90H	ACER2_ENST00000380376.1_Missense_Mutation_p.Q41H	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	90					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.Q90H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTGGGTCAGATGCTTGATG	0.433000													107	493					9.70916e-65	1.63984e-64	0.870114	1	0
DPEP2	64174	broad.mit.edu	37	16	68021439	68021439	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:68021439G>T	ENST00000412757.2	-	12	2096	c.1431C>A	c.(1429-1431)gcC>gcA	p.A477A	DPEP2_ENST00000572888.1_Silent_p.A477A|DPEP2_ENST00000393847.1_Silent_p.A477A			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	477					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.A477A(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGGGAAGGTGGCCACAACTG	0.547000													35	151					2.75727e-19	3.9334e-19	0.804634	1	0
DERL1	79139	broad.mit.edu	37	8	124033690	124033690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:124033690C>A	ENST00000259512.4	-	6	803	c.503G>T	c.(502-504)gGc>gTc	p.G168V	DERL1_ENST00000405944.3_Missense_Mutation_p.G168V|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000523036.1_Missense_Mutation_p.G68V|DERL1_ENST00000419562.2_Missense_Mutation_p.G68V|DERL1_ENST00000519018.1_Missense_Mutation_p.G68V	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	168					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	p.G168V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CACTTACGAGCCTCCGATGAT	0.353000													34	247					6.1244e-12	7.6745e-12	0.834066	1	0
MYH1	4619	broad.mit.edu	37	17	10408755	10408755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10408755G>T	ENST00000226207.5	-	20	2342	c.2248C>A	c.(2248-2250)Ctg>Atg	p.L750M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	750	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATGGACCCCAGGAGCTTCTCT	0.403000													17	189					1.01871e-10	1.25782e-10	0.575678	1	0
FASLG	356	broad.mit.edu	37	1	172628515	172628515	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:172628515G>T	ENST00000367721.2	+	1	358	c.174G>T	c.(172-174)ccG>ccT	p.P58P	FASLG_ENST00000340030.3_Silent_p.P58P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	58	Poly-Pro.|Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.P58P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cacctccgccgccgccgccac	0.622000													3	9					0.115264	0.11807	0.115264	1	0
ANGPT4	51378	broad.mit.edu	37	20	869027	869027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:869027G>A	ENST00000381922.3	-	3	623	c.521C>T	c.(520-522)aCc>aTc	p.T174I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T174I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	174					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T174I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTTGTTGGTGGACAGAAA	0.582000													77	450					0	0	0.870114	0	0
MYOCD	93649	broad.mit.edu	37	17	12647645	12647645	+	Missense_Mutation	SNP	G	G	C	rs140013261	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:12647645G>C	ENST00000425538.1	+	8	1063	c.863G>C	c.(862-864)cGg>cCg	p.R288P	MYOCD_ENST00000343344.4_Missense_Mutation_p.R288P|MYOCD_ENST00000395988.1_Missense_Mutation_p.R192P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	288					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R288P(4)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTACGCTCGGCTGCTCCAG	0.557000													6	31					0	0	0.248553	0	0
OR5M3	219482	broad.mit.edu	37	11	56237426	56237426	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:56237426A>T	ENST00000312240.2	-	1	588	c.548T>A	c.(547-549)aTc>aAc	p.I183N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCATTTTGATGAGAGGTGG	0.408000													60	308					0	0	0.870114	0	0
EPG5	57724	broad.mit.edu	37	18	43497731	43497731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:43497731G>C	ENST00000282041.5	-	17	3186	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1051					autophagy			p.S1051*(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAAATGTCTTGACTGGACCAG	0.428000													10	266					0	0	0.411799	0	0
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:114284743G>T	ENST00000393500.3	+	14	1588	c.768G>T	c.(766-768)tcG>tcT	p.S256S	FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000350908.4_Silent_p.S331S|FOXP2_ENST00000393494.2_Silent_p.S331S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000403559.4_Silent_p.S348S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468000													11	102					1.5842e-08	1.86485e-08	0.435327	1	0
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692000													11	50					0	0	0.411799	0	0
GRID2	2895	broad.mit.edu	37	4	94159624	94159624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:94159624G>T	ENST00000282020.4	+	8	1486	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	GRID2_ENST00000510992.1_Missense_Mutation_p.G315C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	410					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G410C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGAGCTTGGCAGAGGTGT	0.408000													27	221					6.38683e-12	7.98354e-12	0.729181	1	0
KMT2D	8085	broad.mit.edu	37	12	49436374	49436374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:49436374C>G	ENST00000301067.7	-	27	5836	c.5837G>C	c.(5836-5838)gGc>gCc	p.G1946A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1946A(2)|p.G1676A(2)									CTGGCAGAGGCCTGGGTAGGA	0.557000													23	51					0	0	0.693898	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184741	32184741	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:32184741G>T	ENST00000375023.3	-	11	1980	c.1842C>A	c.(1840-1842)ctC>ctA	p.L614L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	614	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L614L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGAGGGGCAGAGGCAAAAGA	0.527000													20	159					3.08376e-08	3.58e-08	0.654019	1	0
HPS4	89781	broad.mit.edu	37	22	26860726	26860726	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:26860726T>A	ENST00000398145.2	-	11	1486	c.870A>T	c.(868-870)acA>acT	p.T290T	HPS4_ENST00000398141.1_Silent_p.T303T|HPS4_ENST00000336873.5_Silent_p.T290T|HPS4_ENST00000402105.3_Silent_p.T285T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	290					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.T290T(2)|p.T303T(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGGGCAGATGTGCTCCCAC	0.572000									Hermansky-Pudlak syndrome				8	110					0	0	0.335167	0	0
TBC1D8	11138	broad.mit.edu	37	2	101648757	101648757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:101648757G>T	ENST00000409318.1	-	11	2039	c.1909C>A	c.(1909-1911)Ccc>Acc	p.P637T	TBC1D8_ENST00000376840.4_Missense_Mutation_p.P622T	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	622	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.P637T(2)|p.P622T(2)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AAGTAATCGGGCAGCATCCGC	0.562000													10	84					4.68919e-08	5.40649e-08	0.361761	1	0
WDR89	112840	broad.mit.edu	37	14	64065848	64065848	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:64065848T>C	ENST00000394942.2	-	2	901	c.813A>G	c.(811-813)gaA>gaG	p.E271E	WDR89_ENST00000267522.3_Silent_p.E271E|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	271								p.E271E(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CCAAAGCATCTTCTTTCATGT	0.373000													111	429					0	0	0.870114	0	0
PCDH10	57575	broad.mit.edu	37	4	134073054	134073054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:134073054C>A	ENST00000264360.4	+	1	2585	c.1759C>A	c.(1759-1761)Cgt>Agt	p.R587S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R587S(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTCCAGCGCGTGAGGTGCT	0.662000													3	18					0.00116845	0.00123703	0.217242	1	0
POLE	5426	broad.mit.edu	37	12	133256133	133256133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:133256133C>G	ENST00000320574.5	-	6	571	c.528G>C	c.(526-528)aaG>aaC	p.K176N	POLE_ENST00000535270.1_Missense_Mutation_p.K149N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	176					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.K176N(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCCCTGTTCTTCTTCACGG	0.507000								DNA polymerases (catalytic subunits)					11	121					0	0	0.387290	0	0
EIF2D	1939	broad.mit.edu	37	1	206785640	206785640	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:206785640C>A	ENST00000271764.2	-	1	264	c.56_splice	c.e1+1	p.R19_splice	EIF2D_ENST00000367114.3_Splice_Site_p.R19_splice	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	19					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.R19M(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCCCTCACCTGTCCGACCC	0.617000													39	92					7.90463e-13	1.00046e-12	0.870114	1	0
FMN2	56776	broad.mit.edu	37	1	240370500	240370500	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:240370500C>A	ENST00000319653.9	+	5	2618	c.2388C>A	c.(2386-2388)gtC>gtA	p.V796V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	796	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.V939V(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAATATCAGTCCAGCTCGACA	0.577000													54	118					3.56336e-21	5.21593e-21	0.870114	1	0
CDH10	1008	broad.mit.edu	37	5	24509715	24509715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:24509715C>A	ENST00000264463.4	-	7	1723	c.1216G>T	c.(1216-1218)Gta>Tta	p.V406L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V406L(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCCATTACAGTACCAATG	0.438000										HNSCC(23;0.051)			38	162					5.13769e-22	7.67613e-22	0.870114	1	0
PCNXL2	80003	broad.mit.edu	37	1	233394394	233394394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:233394394C>A	ENST00000258229.8	-	5	1448	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	405						integral to membrane		p.S405I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGACTTTACACTGGTCTTCTC	0.532000													12	90					7.03913e-09	8.32496e-09	0.411799	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69034445	69034445	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:69034445A>G	ENST00000295381.3	+	5	923	c.504A>G	c.(502-504)gaA>gaG	p.E168E	ARHGAP25_ENST00000497079.1_Silent_p.E162E|ARHGAP25_ENST00000467265.1_Silent_p.E129E|ARHGAP25_ENST00000409202.3_Silent_p.E169E|ARHGAP25_ENST00000409220.1_Silent_p.E162E|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Silent_p.E161E|ARHGAP25_ENST00000544262.1_Silent_p.E143E	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	168	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E162E(2)|p.E169E(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGCCTATGAACAGAAATTCG	0.542000													16	143					0	0	0.539581	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325952	15325952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:15325952T>A	ENST00000378116.4	-	2	256	c.250A>T	c.(250-252)Agt>Tgt	p.S84C		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	84						integral to membrane		p.S84C(4)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCAACTGACTGCCCAGCTTA	0.537000													38	231					0	0	0.812448	0	0
DDX11	1663	broad.mit.edu	37	12	31253967	31253967	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:31253967T>G	ENST00000407793.2	+	20	2206	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	DDX11_ENST00000545668.1_Missense_Mutation_p.V652G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.V652G|DDX11_ENST00000542838.1_Missense_Mutation_p.V652G|DDX11_ENST00000228264.6_Missense_Mutation_p.V626G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.V652G(4)|p.V652A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTCACGTGATCCCTCCA	0.577000										Multiple Myeloma(12;0.14)			26	140					0	0	0.706142	0	0
GYS2	2998	broad.mit.edu	37	12	21713354	21713354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:21713354T>A	ENST00000261195.2	-	8	1389	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	379					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.T379S(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTTCAGGGTTTCCACGTTG	0.378000													30	251					0	0	0.804634	0	0
GPR61	83873	broad.mit.edu	37	1	110086511	110086511	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:110086511C>A	ENST00000527748.1	+	2	1550	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	289						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L289L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGTGGTTCTCCTGGCTGTGG	0.617000													5	32					1.23904e-05	1.37218e-05	0.184627	1	0
TUBA8	51807	broad.mit.edu	37	22	18613793	18613793	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:18613793G>A	ENST00000330423.3	+	5	1313	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E414K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AGAGGGGATGGAAGAAGGAGA	0.542000													12	67					0	0	0.457914	0	0
GC	2638	broad.mit.edu	37	4	72634043	72634043	+	Missense_Mutation	SNP	G	G	T	rs34941807		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:72634043G>T	ENST00000273951.8	-	3	579	c.236C>A	c.(235-237)gCt>gAt	p.A79D	GC_ENST00000504199.1_Missense_Mutation_p.A98D|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.A79D	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	79	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.A98D(2)|p.A79D(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTCAGGGTCAGCCCCTTCCGC	0.532000													10	55					1.11149e-13	1.43189e-13	0.361761	1	0
MYH13	8735	broad.mit.edu	37	17	10222113	10222113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10222113C>G	ENST00000418404.3	-	26	3895	c.3732G>C	c.(3730-3732)aaG>aaC	p.K1244N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1244N|MYH13_ENST00000570743.1_Missense_Mutation_p.K1244N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1244N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTACCTTTGACTTGGAGAGAG	0.562000													32	146					0	0	0.788014	0	0
PAX4	5078	broad.mit.edu	37	7	127253901	127253901	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:127253901A>T	ENST00000341640.2	-	4	652	c.447T>A	c.(445-447)agT>agA	p.S149R	PAX4_ENST00000338516.3_Missense_Mutation_p.S157R|PAX4_ENST00000463946.1_Missense_Mutation_p.S147R|PAX4_ENST00000378740.2_Missense_Mutation_p.S149R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	157					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S149R(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCAGAGCCACTATGGGGAG	0.572000													14	94					0	0	0.479597	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858239	27858239	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:27858239C>G	ENST00000359303.2	-	1	331	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111S(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GTGAATAGCACAGAGGTTGGT	0.547000													12	136					0	0	0.387290	0	0
BRINP2	57795	broad.mit.edu	37	1	177250580	177250580	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:177250580G>T	ENST00000361539.4	+	8	2580	c.2268G>T	c.(2266-2268)gtG>gtT	p.V756V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		756						extracellular region		p.V756V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACAATGAGGTGGGCAGGATCC	0.552000													18	215					2.32416e-17	3.21562e-17	0.624587	1	0
PAX2	5076	broad.mit.edu	37	10	102584414	102584414	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:102584414T>A	ENST00000370296.2	+	9	1548	c.998T>A	c.(997-999)aTg>aAg	p.M333K	PAX2_ENST00000556085.1_Missense_Mutation_p.M309K|PAX2_ENST00000361791.3_Missense_Mutation_p.M310K|PAX2_ENST00000355243.3_Missense_Mutation_p.M310K|PAX2_ENST00000428433.1_Missense_Mutation_p.M333K			Q02962	PAX2_HUMAN	paired box 2	333					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.M333K(2)|p.M310K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTCGTGACATGGCGAGCACC	0.612000													38	199					0	0	0.870114	0	0
FBXO40	51725	broad.mit.edu	37	3	121341414	121341414	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:121341414A>T	ENST00000338040.4	+	3	1552	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	380					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.T380S(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGCAGTGGATACTTCAGATTT	0.483000													86	339					0	0	0.870114	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305908	9305908	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrY:9305908G>T	ENST00000451548.1	+	3	610		c.e3-1		AC006156.1_ENST00000423213.1_Intron|TSPY3_ENST00000440483.1_Intron|TSPY1_ENST00000423647.2_Splice_Site|AC006156.1_ENST00000450145.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1						cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	p.?(2)		lung(4)	4						TGTCCTGACAGGTGGGAGAAG	0.458000													45	526					9.57592e-29	1.50181e-28	0.870114	1	0
RASSF8	11228	broad.mit.edu	37	12	26217434	26217434	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:26217434G>C	ENST00000405154.2	+	3	306	c.107G>C	c.(106-108)cGa>cCa	p.R36P	RASSF8_ENST00000542865.1_Missense_Mutation_p.R36P|RASSF8_ENST00000282884.9_Missense_Mutation_p.R36P|RASSF8_ENST00000541490.1_Missense_Mutation_p.R36P|RASSF8_ENST00000381352.3_Missense_Mutation_p.R36P	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	36	Ras-associating.				signal transduction			p.R36P(4)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TACATAGGTCGAACTGGAAGG	0.338000													74	197					0	0	0.870114	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667826	60667826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:60667826C>A	ENST00000400324.4	-	4	651	c.431G>T	c.(430-432)cGg>cTg	p.R144L	DIAPH3_ENST00000400319.1_Missense_Mutation_p.R74L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R144L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R133L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R144L|DIAPH3_ENST00000400320.1_Intron	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCCTTTTCCCGCAATGGTGC	0.333000													14	84					0.000132079	0.000142521	0.575678	1	0
TAS2R16	50833	broad.mit.edu	37	7	122634999	122634999	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:122634999G>A	ENST00000249284.2	-	1	755	c.690C>T	c.(688-690)gcC>gcT	p.A230A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A230A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAATAAGACGGCAAGGGACC	0.433000													43	254					0	0	0.859065	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821650	129821650	+	RNA	SNP	G	G	A	rs56088005	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:129821650G>A	ENST00000500074.2	-	0	495																											GGTTGCGGACGGTAAAGGCCA	0.667000													4	82					0	0	0.217242	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:57896476G>T	ENST00000381227.1	+	25	3759	c.3346G>T	c.(3346-3348)Gtt>Ttt	p.V1116F	POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109F|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041F|POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(2)|p.V1116I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000													36	218					4.32679e-17	5.97003e-17	0.827153	1	0
CLRN2	645104	broad.mit.edu	37	4	17524543	17524543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:17524543C>A	ENST00000511148.2	+	2	412	c.310C>A	c.(310-312)Ctc>Atc	p.L104I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	104						integral to membrane		p.L121I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATTCTGCTGCTCCTCTTCCT	0.557000													38	247					6.2361e-21	9.04952e-21	0.834066	1	0
LAMA1	284217	broad.mit.edu	37	18	6943380	6943380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:6943380C>A	ENST00000389658.3	-	62	8959	c.8866G>T	c.(8866-8868)Ggt>Tgt	p.G2956C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2956	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2956C(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCAGCACCATTGTTGACA	0.408000													14	139					2.32078e-09	2.77068e-09	0.479597	1	0
SLC5A1	6523	broad.mit.edu	37	22	32482262	32482262	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:32482262T>A	ENST00000266088.4	+	10	1327	c.1077T>A	c.(1075-1077)gtT>gtA	p.V359V	SLC5A1_ENST00000543737.1_Silent_p.V232V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	359					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.V359V(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTACCAAGGTTGGCTGTACCA	0.493000													97	478					0	0	0.870114	0	0
MTMR6	9107	broad.mit.edu	37	13	25832811	25832811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:25832811C>A	ENST00000381801.5	-	7	1507	c.746G>T	c.(745-747)aGa>aTa	p.R249I	MTMR6_ENST00000540661.1_Missense_Mutation_p.R249I|MTMR6_ENST00000482345.1_5'UTR	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	249	Myotubularin phosphatase.|Substrate binding (By similarity).					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.R249I(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCAGCTGCTCTGTTGGCCAT	0.299000													7	43					0.00829132	0.00863323	0.361761	1	0
GABBR2	9568	broad.mit.edu	37	9	101216375	101216375	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:101216375G>T	ENST00000259455.2	-	7	1583	c.1124C>A	c.(1123-1125)aCa>aAa	p.T375K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	375					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T375K(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCATGCAGTGTCTCCATGGC	0.592000													34	175					3.62531e-18	5.07141e-18	0.796494	1	0
CDH20	28316	broad.mit.edu	37	18	59166451	59166451	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:59166451C>A	ENST00000262717.4	+	3	677	c.279C>A	c.(277-279)tcC>tcA	p.S93S	CDH20_ENST00000538374.1_Silent_p.S93S|CDH20_ENST00000536675.2_Silent_p.S93S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	93	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S93S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGACGGATCCATCAAATACA	0.483000													6	31					0.217242	0.220296	0.217242	1	0
MUC16	94025	broad.mit.edu	37	19	9024497	9024497	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:9024497C>A	ENST00000397910.4	-	17	37240		c.e17-1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.?(2)		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						TGGGTGAAACCTGCATAGAGA	0.542000													38	258					1.7489e-18	2.45332e-18	0.859065	1	0
FAM107A	11170	broad.mit.edu	37	3	58555486	58555486	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:58555486C>A	ENST00000394481.1	-	3	660	c.102G>T	c.(100-102)ctG>ctT	p.L34L	FAM107A_ENST00000474531.1_Silent_p.L65L|FAM107A_ENST00000360997.2_Silent_p.L34L|FAM107A_ENST00000447756.2_Silent_p.L62L|FAM107A_ENST00000464064.1_Silent_p.L34L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	34					regulation of cell growth	nucleus	protein binding	p.L34L(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CGGGGTTCAGCAGCTTCTTGG	0.622000													14	45					1.3612e-06	1.53439e-06	0.479597	1	0
OR2L3	391192	broad.mit.edu	37	1	248224602	248224602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248224602G>T	ENST00000359959.3	+	1	619	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207L(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CATCTTTCTCGTGTTTCCCTT	0.493000													36	544					2.66277e-13	3.4043e-13	0.827153	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851711	14851711	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:14851711A>T	ENST00000358984.4	+	36	3591	c.3411A>T	c.(3409-3411)gtA>gtT	p.V1137V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1222								p.V1137V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAACAGTAACAAAAAGGG	0.353000													11	81					0	0	0.435327	0	0
OVCH1	341350	broad.mit.edu	37	12	29598303	29598303	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:29598303G>T	ENST00000318184.5	-	23	2788	c.2789C>A	c.(2788-2790)aCt>aAt	p.T930N	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	930	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.T930N(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACTCATGAAAGTCATTGAGTA	0.378000													38	110					4.40578e-31	7.01866e-31	0.819951	1	0
TMEM168	64418	broad.mit.edu	37	7	112424746	112424746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:112424746C>A	ENST00000312814.5	-	2	695	c.135G>T	c.(133-135)ttG>ttT	p.L45F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L45F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	45						integral to membrane|transport vesicle		p.L45F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATATAGCAACCAATAAATTGA	0.348000													19	132					3.5997e-14	4.72168e-14	0.624587	1	0
ZNF99	7652	broad.mit.edu	37	19	22951200	22951200	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:22951200T>A	ENST00000397104.3	-	3	195	c.196A>T	c.(196-198)Atc>Ttc	p.I66F	ZNF99_ENST00000596209.1_Missense_Mutation_p.I45F					zinc finger protein 99									p.I66F(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAGACAGCGATACCTGtttta	0.338000													9	54					0	0	0.307466	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896946	48896946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:48896946C>T	ENST00000394754.1	+	9	3290	c.3176C>T	c.(3175-3177)aCa>aTa	p.T1059I	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1059I|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T355I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1012I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1059I|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T321I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1012					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T4I(4)|p.T1059I(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCGGTGATACATCTTCCAAT	0.378000													27	177					0	0	0.706142	0	0
LRRN2	10446	broad.mit.edu	37	1	204588984	204588984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:204588984G>T	ENST00000367175.1	-	1	2349	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	LRRN2_ENST00000367176.3_Missense_Mutation_p.S46Y|LRRN2_ENST00000367177.3_Missense_Mutation_p.S46Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	46	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.S46Y(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCGCGGTAGGACGAGCGGGG	0.667000													19	98					1.10513e-12	1.39523e-12	0.624587	1	0
GRK5	2869	broad.mit.edu	37	10	121212201	121212201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:121212201A>T	ENST00000392870.2	+	14	1752	c.1423A>T	c.(1423-1425)Aag>Tag	p.K475*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.K370*|GRK5_ENST00000473264.1_3'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	475	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.K475*(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGTACTGTAAGGACGTGCT	0.622000													5	22					0	0	0.248553	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143691	142143691	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142143691G>T	ENST00000390373.2	-	0	304																											AGTCTGAGAGGGAGCAGCTGA	0.527000													44	300					8.78508e-14	1.13756e-13	0.870114	1	0
EPHA4	2043	broad.mit.edu	37	2	222428583	222428583	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:222428583C>A	ENST00000281821.2	-	3	732	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	EPHA4_ENST00000409854.1_Missense_Mutation_p.G231C|EPHA4_ENST00000409938.1_Missense_Mutation_p.G231C|EPHA4_ENST00000392071.4_Missense_Mutation_p.G180C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G231C(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACACAGGAGCCTCGAACTTCC	0.512000													35	189					4.62619e-21	6.73264e-21	0.796494	1	0
KRT16P6	353194	broad.mit.edu	37	17	16723389	16723389	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:16723389G>T	ENST00000417510.1	-	0	730																											CCACACTCATGCGCAGGTTCA	0.562000													10	165					0.000442599	0.000472543	0.335167	1	0
AHI1	54806	broad.mit.edu	37	6	135611635	135611635	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:135611635C>T	ENST00000367800.4	-	26	3730	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	AHI1_ENST00000417892.2_3'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.E1172K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1172						adherens junction|cilium|microtubule basal body		p.E1172K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGGTCCTCATGGCTCTGT	0.428000													40	680					0	0	0.870114	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090292	238090292	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:238090292G>T	ENST00000450451.1	+	0	1798					NR_027247.2																						ACTCCTACGTGGGCGACAAGG	0.602000													11	57					2.80697e-09	3.34321e-09	0.387290	1	0
CTSC	1075	broad.mit.edu	37	11	88027474	88027474	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:88027474C>T	ENST00000227266.5	-	7	1206	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	364					immune response	lysosome	cysteine-type endopeptidase activity	p.L364L(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGATGGACCAACTCAAGCT	0.458000													63	348					0	0	0.870114	0	0
CHRM3	1131	broad.mit.edu	37	1	240072343	240072343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:240072343G>C	ENST00000255380.4	+	5	2371	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGGGCTACTGGCTGTGCTAC	0.488000													51	142					0	0	0.870114	0	0
C1orf173	127254	broad.mit.edu	37	1	75055641	75055641	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:75055641C>G	ENST00000326665.5	-	12	2068	c.1850G>C	c.(1849-1851)aGg>aCg	p.R617T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.R420T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.							p.R617T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAGATGACCTTCTGGCACT	0.438000													22	120					0	0	0.681144	0	0
GPR12	2835	broad.mit.edu	37	13	27333529	27333529	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:27333529G>A	ENST00000405846.3	-	2	657	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	GPR12_ENST00000381436.2_Silent_p.L146L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	146						integral to plasma membrane		p.L146L(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGTACGTCAGAGCGTAGTAC	0.577000													20	109					0	0	0.667858	0	0
DNAH9	1770	broad.mit.edu	37	17	11514989	11514989	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:11514989T>C	ENST00000262442.3	+	4	864	c.796T>C	c.(796-798)Tat>Cat	p.Y266H	DNAH9_ENST00000579828.1_Missense_Mutation_p.Y266H|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.Y266H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	266	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y266H(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAATACATCTATAATCAACT	0.448000													33	181					0	0	0.769981	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558265	11558265	+	Silent	SNP	C	C	T	rs149732361		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:11558265C>T	ENST00000252455.2	+	11	1197	c.861C>T	c.(859-861)acC>acT	p.T287T	PRKCSH_ENST00000587327.1_Silent_p.T287T|PRKCSH_ENST00000412601.1_Silent_p.T287T|PRKCSH_ENST00000589838.1_Silent_p.T287T|PRKCSH_ENST00000591462.1_Silent_p.T287T|PRKCSH_ENST00000592741.1_Silent_p.T287T	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	287	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.T287T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CACTGCCCACCGACCTTCCAG	0.677000													4	24					0	0	0.278610	0	0
APMAP	57136	broad.mit.edu	37	20	24964571	24964571	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:24964571C>A	ENST00000217456.2	-	2	470	c.180G>T	c.(178-180)ctG>ctT	p.L60L	APMAP_ENST00000447138.1_Silent_p.L60L	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein									p.L60L(2)									GAGATTCCAGCAGCATCATGG	0.502000													21	101					1.1804e-14	1.56868e-14	0.667858	1	0
CD200R1	131450	broad.mit.edu	37	3	112648181	112648181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:112648181C>A	ENST00000471858.1	-	3	539	c.307G>T	c.(307-309)Gag>Tag	p.E103*	CD200R1_ENST00000490004.1_Nonsense_Mutation_p.E103*|CD200R1_ENST00000440122.2_Nonsense_Mutation_p.E126*|CD200R1_ENST00000308611.3_Nonsense_Mutation_p.E126*|CD200R1_ENST00000295863.4_Nonsense_Mutation_p.E81*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	103	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.E126*(4)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTATTCTCTCATCAGTACAG	0.443000													115	471					1.58894e-48	2.64823e-48	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745860	138745860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:138745860G>T	ENST00000242351.5	-	9	2334	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S673Y|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S795Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	673	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.S673Y(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAGTTTTGGAAGCTATGTT	0.403000													73	379					9.04243e-43	1.48744e-42	0.870114	1	0
RYR3	6263	broad.mit.edu	37	15	34115267	34115267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:34115267C>A	ENST00000389232.4	+	81	11136	c.11066C>A	c.(11065-11067)tCt>tAt	p.S3689Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3684Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3689					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3688Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTATGCAGTCTTGCAGGTAA	0.433000													8	59					2.17888e-05	2.38167e-05	0.335167	1	0
EMR1	2015	broad.mit.edu	37	19	6897298	6897298	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:6897298G>A	ENST00000312053.4	+	4	414	c.377G>A	c.(376-378)gGc>gAc	p.G126D	EMR1_ENST00000381404.4_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.G126D|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.G126D|EMR1_ENST00000381407.5_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	126	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G126D(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGAAAGCCGGGCAATTTCTCC	0.498000													7	155					0	0	0.335167	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468562	26468562	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:26468562G>A	ENST00000312541.5	+	8	1617	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E396K	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	457	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane		p.E457K(2)|p.E443K(2)		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						CCTGGACTATGAAGCTGGAGA	0.542000													41	230					0	0	0.847076	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594075	7594075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:7594075G>T	ENST00000342415.5	+	2	324	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	89					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	p.E89*(2)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TACCAAAGAAGAAGAGGTACC	0.333000													42	258					2.42038e-35	3.94289e-35	0.834066	1	0
IL7R	3575	broad.mit.edu	37	5	35876456	35876456	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:35876456C>G	ENST00000303115.3	+	8	1377	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	416					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P416P(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCACGCTGCCCCCTCCATTTT	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						12	69					0	0	0.557998	0	0
ITGAD	3681	broad.mit.edu	37	16	31424230	31424230	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31424230C>A	ENST00000389202.2	+	15	1828	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	593					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L593L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCAGGACCTCACCCAGGATG	0.652000													21	109					1.64113e-05	1.80561e-05	0.592651	1	0
N6AMT1	29104	broad.mit.edu	37	21	30252230	30252230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:30252230C>A	ENST00000303775.5	-	4	383	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	120					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.V120L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGATTAAACACCAGAAGATCA	0.289000													28	197					1.61004e-24	2.47133e-24	0.870114	1	0
WWTR1	25937	broad.mit.edu	37	3	149374727	149374727	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:149374727C>G	ENST00000465804.1	-	3	623	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	WWTR1_ENST00000360632.3_Missense_Mutation_p.E123Q|WWTR1_ENST00000467467.1_Missense_Mutation_p.E123Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	123					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.E123Q(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGTGGCAGCTCGTCGGTCACG	0.687000			T	CAMTA1	epitheliod hemangioendothelioma								5	28					0	0	0.307466	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973836	69973836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:69973836G>T	ENST00000305231.7	+	5	1152	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	369					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R369I(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAAAGACCAGAGCTTTTATA	0.418000													37	246					7.04047e-22	1.0488e-21	0.812448	1	0
PRR23C	389152	broad.mit.edu	37	3	138762887	138762887	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:138762887G>T	ENST00000413199.1	-	1	847	c.576C>A	c.(574-576)ggC>ggA	p.G192G	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.G192G	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	192	Pro-rich.							p.G192G(2)		breast(2)|lung(7)|skin(2)	11						CTCGGATGGGGCCCTCCCGGT	0.647000													9	47					1.5842e-08	1.86485e-08	0.435327	1	0
RYR3	6263	broad.mit.edu	37	15	34153353	34153353	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:34153353A>T	ENST00000389232.4	+	102	14509	c.14439A>T	c.(14437-14439)ttA>ttT	p.L4813F	RYR3_ENST00000415757.3_Missense_Mutation_p.L4808F|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4813					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L4812F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACATACATTACAAGAGCACA	0.373000													5	49					0	0	0.248553	0	0
COPS7B	64708	broad.mit.edu	37	2	232672272	232672272	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:232672272C>T	ENST00000350033.3	+	7	853	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	COPS7B_ENST00000410017.1_Silent_p.N260N|COPS7B_ENST00000373608.3_Silent_p.N255N|COPS7B_ENST00000409295.1_Missense_Mutation_p.R204W|COPS7B_ENST00000409091.1_Missense_Mutation_p.R131W|COPS7B_ENST00000410024.1_Missense_Mutation_p.R238W	NM_022730.1	NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	238					cullin deneddylation	cytoplasm|signalosome		p.R238W(1)		large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCTGGCTGAACGGGAGTGTCC	0.587000													4	62					0	0	0.150653	0	0
CDH6	1004	broad.mit.edu	37	5	31305452	31305452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:31305452C>A	ENST00000265071.2	+	7	1436	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q336K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q391K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACATCTTACAAATAAGAGA	0.468000													51	228					2.0833e-19	2.98036e-19	0.870114	1	0
COBL	23242	broad.mit.edu	37	7	51096323	51096323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:51096323C>T	ENST00000395542.2	-	12	2900	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	COBL_ENST00000265136.7_Missense_Mutation_p.E824K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	824								p.E824K(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCGGCCCTCATGGTGGGCA	0.627000													6	36					0	0	0.307466	0	0
ANKH	56172	broad.mit.edu	37	5	14746065	14746065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:14746065C>A	ENST00000284268.6	-	7	1159	c.829G>T	c.(829-831)Gcg>Tcg	p.A277S	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.A79S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	277					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.A277S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCAAAATCGCCACTGCCTGC	0.567000													27	88					5.45727e-16	7.48892e-16	0.729181	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992633	43992633	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:43992633C>T	ENST00000282406.4	+	30	4488	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1460						cytoplasm|cytoskeleton|integral to membrane	binding	p.P1460S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCTCTGCTCCAGCACTGCT	0.502000													17	69					0	0	0.557998	0	0
OR8B8	26493	broad.mit.edu	37	11	124310713	124310713	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:124310713T>C	ENST00000328064.2	-	1	341	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGATGCTGTTCTTCTTTAA	0.423000													56	370					0	0	0.870114	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:15134401G>A	ENST00000266395.2	+	4	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(2)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000													66	192					0	0	0.870114	0	0
CASP4	837	broad.mit.edu	37	11	104825538	104825538	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:104825538A>G	ENST00000444739.2	-	2	1108	c.198T>C	c.(196-198)cgT>cgC	p.R66R	CASP4_ENST00000393150.3_Silent_p.R10R|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	66	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R66R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTCCTGCCATACGTTGCTTCT	0.358000													33	222					0	0	0.864702	0	0
FLG	2312	broad.mit.edu	37	1	152286758	152286758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:152286758C>A	ENST00000368799.1	-	3	639	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	202					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E202*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGTCTTTCACTTAGCCTC	0.328000									Ichthyosis				6	107					5.9392e-07	6.75517e-07	0.217242	1	0
FAM135B	51059	broad.mit.edu	37	8	139380193	139380193	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:139380193C>T	ENST00000395297.1	-	2	204	c.34G>A	c.(34-36)Gta>Ata	p.V12I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	12								p.V12I(2)|p.V12L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTAGCTCTACCGAAAACTCA	0.368000										HNSCC(54;0.14)			30	305					0	0	0.804634	0	0
WDR6	11180	broad.mit.edu	37	3	49050698	49050698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:49050698C>G	ENST00000395474.3	+	2	2101	c.1821C>G	c.(1819-1821)tgC>tgG	p.C607W	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.C526W	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	577					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.C577W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGTCACATGCCATGGTGGCT	0.577000													8	31					0	0	0.307466	0	0
PDE10A	10846	broad.mit.edu	37	6	165827162	165827162	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:165827162A>T	ENST00000366882.1	-	14	1229	c.1075T>A	c.(1075-1077)Tac>Aac	p.Y359N	PDE10A_ENST00000539869.2_Missense_Mutation_p.Y369N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y359N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	359	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Y359N(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAGCCTGTGTACAAGTCTACT	0.483000													13	87					0	0	0.435327	0	0
STOX1	219736	broad.mit.edu	37	10	70645915	70645915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:70645915G>T	ENST00000298596.6	+	3	2446	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	STOX1_ENST00000399169.4_Missense_Mutation_p.R788M|STOX1_ENST00000421961.2_Missense_Mutation_p.R678M|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	788						cytoplasm|nucleolus	DNA binding	p.R788M(2)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACAATGGAGAGGGTTGAGTCT	0.458000													11	44					6.40141e-05	6.93715e-05	0.387290	1	0
MATN1	4146	broad.mit.edu	37	1	31194492	31194492	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:31194492G>T	ENST00000373765.4	-	2	236	c.201C>A	c.(199-201)gtC>gtA	p.V67V	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	67	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.V67V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACTCGATGACCTGGGACA	0.597000													5	35					0.00307968	0.00324684	0.278610	1	0
IL9R	3581	broad.mit.edu	37	X	155234093	155234093	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:155234093G>T	ENST00000424344.3	+	6	746	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	IL9R_ENST00000244174.5_Missense_Mutation_p.D148Y|IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor	148					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTTAAGCTGGACCCGCCCTC	0.542000													16	78					4.30721e-22	6.45442e-22	0.592651	1	0
RALGPS1	9649	broad.mit.edu	37	9	129957388	129957388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:129957388G>T	ENST00000259351.5	+	12	1196	c.929G>T	c.(928-930)gGt>gTt	p.G310V	RALGPS1_ENST00000424082.2_Missense_Mutation_p.G310V|RALGPS1_ENST00000373434.1_Missense_Mutation_p.G310V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	310					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G310V(4)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTGGCTCCGGTTCTGCGAGG	0.622000													13	86					1.3612e-06	1.53439e-06	0.479597	1	0
PARD3B	117583	broad.mit.edu	37	2	205978257	205978257	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:205978257A>T	ENST00000406610.2	+	6	843	c.636A>T	c.(634-636)ccA>ccT	p.P212P	PARD3B_ENST00000462231.1_Silent_p.P212P|PARD3B_ENST00000349953.3_Silent_p.P212P|PARD3B_ENST00000351153.1_Silent_p.P212P|PARD3B_ENST00000358768.2_Silent_p.P212P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	212	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.P212P(4)|p.P213P(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGAGGCCCATTGGGAATAC	0.433000													14	63					0	0	0.575678	0	0
RGS3	5998	broad.mit.edu	37	9	116346655	116346655	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:116346655G>A	ENST00000374140.2	+	21	3172	c.2963G>A	c.(2962-2964)cGc>cAc	p.R988H	RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.R988H|RGS3_ENST00000374134.3_Missense_Mutation_p.R309H|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.R309H|RGS3_ENST00000343817.5_Missense_Mutation_p.R707H	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	988					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.R884H(1)|p.R988H(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCTGGGCCGCAATGGTGGC	0.597000													3	49					0	0	0.150653	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758166	25758166	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:25758166C>G	ENST00000586223.1	+	0	2600					NR_033892.1																						ctgcactgagccacaatatgg	0.592000													3	13					0	0	0.115264	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497613	1497613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:1497613C>A	ENST00000421627.2	+	2	888	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	331					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.Q274K(2)|p.Q296K(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACGCGCTGCAGAGCCCCTT	0.667000													23	115					4.59853e-10	5.55564e-10	0.693898	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976742	47976742	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:47976742G>A	ENST00000543600.1	-	2	523	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	PTCHD4_ENST00000339488.4_Missense_Mutation_p.L179F			Q6ZW05	CF138_HUMAN	patched domain containing 4	179						integral to membrane	hedgehog receptor activity	p.L179F(3)									TAGGTCTGGAGGTAGTAGGTG	0.502000													14	59					0	0	0.575678	0	0
CSMD3	114788	broad.mit.edu	37	8	113988108	113988108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:113988108G>T	ENST00000297405.5	-	7	1544	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q394K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q434K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	434						integral to membrane|plasma membrane		p.Q434K(2)|p.Q394K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTCTATCTGTTCAGCATGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	117					9.86323e-18	1.37216e-17	0.667858	1	0
CHD8	57680	broad.mit.edu	37	14	21899280	21899280	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:21899280C>A	ENST00000399982.2	-	1	587	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	CHD8_ENST00000557364.1_Missense_Mutation_p.V175L|CHD8_ENST00000430710.3_Intron|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	175					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.V175L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTTGTGCCACATGGGCACCA	0.557000													5	58					2.0095e-06	2.26013e-06	0.248553	1	0
ERBB2	2064	broad.mit.edu	37	17	37864639	37864639	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:37864639G>A	ENST00000406381.2	+	5	711	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Silent_p.Q67Q|ERBB2_ENST00000269571.5_Silent_p.Q97Q|ERBB2_ENST00000584601.1_Silent_p.Q67Q|ERBB2_ENST00000584450.1_Silent_p.Q97Q|ERBB2_ENST00000540042.1_Silent_p.Q67Q|ERBB2_ENST00000541774.1_Silent_p.Q82Q|ERBB2_ENST00000540147.1_Silent_p.Q67Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	97					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.Q97Q(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCCACTGCAGAGGCTGCGGA	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			12	103					0	0	0.520397	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:10920118C>G	ENST00000298232.7	-	18	1449	c.1082G>C	c.(1081-1083)aGc>aCc	p.S361T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S341T|TPTE_ENST00000361285.4_Missense_Mutation_p.S379T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													10	194					0	0	0.479597	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741088	146741088	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:146741088G>T	ENST00000361727.3	+	4	1008	c.492G>T	c.(490-492)ctG>ctT	p.L164L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	164	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L164L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGTGCCTCTGGATTGGAATG	0.443000										HNSCC(39;0.1)			30	229					7.11191e-15	9.47629e-15	0.769981	1	0
SLC6A5	9152	broad.mit.edu	37	11	20623178	20623178	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:20623178G>T	ENST00000525748.1	+	2	780	c.507G>T	c.(505-507)gtG>gtT	p.V169V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V169V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCACGTCCGTGCTCCCGGGCA	0.657000													9	41					1.61879e-10	1.9842e-10	0.411799	1	0
C1orf226	400793	broad.mit.edu	37	1	162353098	162353098	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:162353098G>A	ENST00000458626.2	+	2	616	c.444G>A	c.(442-444)ctG>ctA	p.L148L	C1orf226_ENST00000426197.2_Silent_p.L191L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	148								p.L191L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCAGCAGTCTGGAGTATGGGA	0.622000													9	31					0	0	0.361761	0	0
WDPCP	51057	broad.mit.edu	37	2	63349192	63349192	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:63349192C>A	ENST00000409120.1	-	12	5165		c.e12-1		WDPCP_ENST00000272321.7_Splice_Site|WDPCP_ENST00000398544.3_Splice_Site|WDPCP_ENST00000409199.1_Splice_Site			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector						cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCTGATTTCCTGCAAATAAA	0.269000													10	86					0.000978159	0.00103994	0.387290	1	0
MARCH3	115123	broad.mit.edu	37	5	126253786	126253786	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:126253786C>G	ENST00000308660.5	-	2	592	c.78G>C	c.(76-78)acG>acC	p.T26T	MARCH3_ENST00000515241.1_Silent_p.T26T|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	26					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	p.T26T(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AATCCTCCACCGTCTTCACCA	0.572000													6	94					0	0	0.278610	0	0
POT1	25913	broad.mit.edu	37	7	124475408	124475408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:124475408C>G	ENST00000357628.3	-	15	2028	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	POT1_ENST00000393329.1_Missense_Mutation_p.R346T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353000													49	291					0	0	0.870114	0	0
GLP2R	9340	broad.mit.edu	37	17	9792900	9792900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:9792900G>T	ENST00000262441.5	+	13	2053	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	GLP2R_ENST00000574745.1_Missense_Mutation_p.G334C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	514					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G514C(3)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGGGGAGCTGGGCGCCCAGCC	0.637000													11	52					3.86212e-05	4.19434e-05	0.361761	1	0
CCDC28A	25901	broad.mit.edu	37	6	139106400	139106400	+	Missense_Mutation	SNP	G	G	A	rs143442772		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:139106400G>A	ENST00000332797.6	+	4	784	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	210								p.R210Q(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAACATGTTCGGGGAATGCAG	0.403000													34	152					0	0	0.847076	0	0
PAX7	5081	broad.mit.edu	37	1	18960982	18960982	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:18960982C>G	ENST00000420770.2	+	2	354	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	PAX7_ENST00000375375.3_Missense_Mutation_p.Q91E|PAX7_ENST00000400661.3_Missense_Mutation_p.Q91E	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	91	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q91E(4)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TTGCCGCTACCAGGAGACCGG	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								8	24					0	0	0.278610	0	0
DYDC2	84332	broad.mit.edu	37	10	82122230	82122230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:82122230G>T	ENST00000372199.1	+	4	629	c.31G>T	c.(31-33)Gga>Tga	p.G11*	DYDC2_ENST00000372198.1_Nonsense_Mutation_p.G25*|DYDC2_ENST00000256039.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000372197.1_Nonsense_Mutation_p.G11*|DYDC2_ENST00000444807.2_Nonsense_Mutation_p.G11*			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	11							protein binding	p.G11*(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAGGTGCTTTGGAAATTGCCT	0.443000													15	67					1.3612e-06	1.53439e-06	0.479597	1	0
LTBP2	4053	broad.mit.edu	37	14	75052556	75052556	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:75052556C>A	ENST00000261978.4	-	3	1217		c.e3+1		LTBP2_ENST00000556690.1_Splice_Site|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGGGACTTACCCAGCTGGTG	0.647000													13	38					1.67942e-08	1.96776e-08	0.539581	1	0
CFI	3426	broad.mit.edu	37	4	110670479	110670479	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:110670479T>A	ENST00000394634.2	-	10	1252		c.e10-2		CFI_ENST00000394635.3_Splice_Site|CFI_ENST00000512148.1_Splice_Site	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I						complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GAGGTCTCCCTGTAAAAGACA	0.448000													25	158					0	0	0.750413	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003139	16003139	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:16003139C>G	ENST00000221700.5	-	5	600	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E20Q|CYP4F2_ENST00000592328.1_Missense_Mutation_p.E169Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	169				E -> D (in Ref. 7; AAH67440).	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.E169Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACACTCTCATTGAAAATC	0.507000													81	564					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113304844	113304844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:113304844C>G	ENST00000297405.5	-	55	8954	c.8710G>C	c.(8710-8712)Ggg>Cgg	p.G2904R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2735R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2864R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2834R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2904	Sushi 19.					integral to membrane|plasma membrane		p.G2904R(2)|p.G2864R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAGATACCCAATATTGCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	419					0	0	0.779181	0	0
FAT3	120114	broad.mit.edu	37	11	92531802	92531802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:92531802G>A	ENST00000298047.6	+	9	5640	c.5623G>A	c.(5623-5625)Gat>Aat	p.D1875N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1725N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1875N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1875	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D1875N(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGTGACAGATGTGAATGA	0.453000										TCGA Ovarian(4;0.039)			10	72					0	0	0.335167	0	0
PRMT1	3276	broad.mit.edu	37	19	50188237	50188237	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:50188237G>A	ENST00000532489.1	+	8	1070	c.564G>A	c.(562-564)gaG>gaA	p.E188E	PRMT1_ENST00000391851.4_Silent_p.E216E|PRMT1_ENST00000454376.2_Silent_p.E234E			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	215						cytoplasm	protein methyltransferase activity	p.E210E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCATTAAGGAGCCCCTAGTGG	0.612000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	76					0	0	0.608945	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504896	95504896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:95504896T>C	ENST00000297591.5	-	21	4867	c.4792A>G	c.(4792-4794)Acc>Gcc	p.T1598A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1598					mRNA processing|RNA splicing	nucleus		p.T1598A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTATAAAGGTCTCATGCTTG	0.368000													24	181					0	0	0.706142	0	0
PACSIN3	29763	broad.mit.edu	37	11	47204070	47204070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:47204070C>A	ENST00000539589.1	-	4	437	c.95G>T	c.(94-96)gGg>gTg	p.G32V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G32V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	32	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.G32V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAGCCGGTGCCCGTCCTCCAC	0.652000													5	18					0.248553	0.250038	0.248553	1	0
MYH2	4620	broad.mit.edu	37	17	10428361	10428361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10428361C>A	ENST00000245503.5	-	34	5068	c.4684G>T	c.(4684-4686)Gga>Tga	p.G1562*	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.G1562*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1562					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1562*(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGATCTTTCCCTCTTCATGT	0.403000													28	158					1.06647e-15	1.45167e-15	0.788014	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735071	37735071	+	Splice_Site	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:37735071T>G	ENST00000330843.4	-	2	384		c.e2-2		RAB11FIP1_ENST00000522727.1_Splice_Site|RAB11FIP1_ENST00000524118.1_5'UTR|RAB11FIP1_ENST00000287263.4_Splice_Site	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)						protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTATACCACCTGAAAGGAGAA	0.463000													21	128					0	0	0.654019	0	0
ANO6	196527	broad.mit.edu	37	12	45782068	45782068	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:45782068G>A	ENST00000320560.8	+	11	1492	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	ANO6_ENST00000423947.3_Silent_p.V451V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Silent_p.V430V|ANO6_ENST00000435642.1_Silent_p.V430V|ANO6_ENST00000441606.2_Silent_p.V412V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	430					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.V430V(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCACGTAGTGATAAATGAGA	0.463000													121	424					0	0	0.870114	0	0
TDRD5	163589	broad.mit.edu	37	1	179621246	179621246	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:179621246G>A	ENST00000444136.1	+	13	2324	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E692K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E692K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	692					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E692K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTCTTGACAGAACTGGGTTA	0.413000													56	450					0	0	0.870114	0	0
C4orf17	84103	broad.mit.edu	37	4	100451036	100451036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:100451036C>A	ENST00000514652.1	+	5	821	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	C4orf17_ENST00000326581.4_Missense_Mutation_p.S156Y|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	156								p.S156Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GGCTCCTGTTCTTCAGGGATG	0.368000													30	163					3.09479e-21	4.56979e-21	0.827153	1	0
RSBN1	54665	broad.mit.edu	37	1	114310969	114310969	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:114310969G>A	ENST00000261441.5	-	5	1764	c.1701C>T	c.(1699-1701)acC>acT	p.T567T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	567						nucleus		p.T567T(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTCACTGGTCCGAGGTA	0.433000													12	112					0	0	0.457914	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164231	150164231	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:150164231G>A	ENST00000307271.3	+	2	1019	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	149						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.E149K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGATTTCATTGAAAAAAACAA	0.448000													17	199					0	0	0.592651	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384244	236384244	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:236384244G>A	ENST00000354619.5	-	15	1432	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	411					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.L411L(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AATATCTTCAGGGCAGTTCCT	0.323000													3	26					0	0	0.150653	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:140562928C>G	ENST00000361016.2	+	1	1949	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000													11	80					0	0	0.361761	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324130	61324130	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:61324130G>A	ENST00000283752.5	-	7	846	c.703C>T	c.(703-705)Cca>Tca	p.P235S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	235					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P235S(2)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTTTGTATGGTATTTCCAGG	0.408000													23	311					0	0	0.667858	0	0
WIPI1	55062	broad.mit.edu	37	17	66430737	66430737	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:66430737C>T	ENST00000262139.5	-	7	651	c.652G>A	c.(652-654)Gat>Aat	p.D218N	WIPI1_ENST00000546360.1_Missense_Mutation_p.D136N|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	218					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.D218N(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTGCCCATCAGGGACAGAG	0.498000													10	81					0	0	0.435327	0	0
OCA2	4948	broad.mit.edu	37	15	28211878	28211878	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:28211878A>T	ENST00000354638.3	-	15	1749	c.1594T>A	c.(1594-1596)Tgg>Agg	p.W532R	OCA2_ENST00000382996.2_Missense_Mutation_p.W532R|OCA2_ENST00000353809.5_Missense_Mutation_p.W508R	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	532					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.W532R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTCTGTTCCAGTAAAGGAGT	0.443000									Oculocutaneous Albinism				18	94					0	0	0.575678	0	0
CHD9	80205	broad.mit.edu	37	16	53330938	53330938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:53330938A>T	ENST00000566029.1	+	30	5790	c.5581A>T	c.(5581-5583)Aga>Tga	p.R1861*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1861*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1861*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R1861*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACCCTGACAGAGGCCAATT	0.358000													34	128					0	0	0.834066	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165312	161165312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:161165312C>A	ENST00000367996.4	-	4	1632	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	402	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.E402*(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCAGGGCTCCTCAGGATCC	0.547000													46	276					1.19451e-25	1.8504e-25	0.870114	1	0
MARK1	4139	broad.mit.edu	37	1	220825386	220825386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:220825386G>T	ENST00000402574.1	+	15	2227	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	MARK1_ENST00000366918.4_Missense_Mutation_p.V522F|MARK1_ENST00000366917.4_Missense_Mutation_p.V544F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	544					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V544F(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCCTCTGCTGTCCCCTCAGC	0.498000													19	144					2.39556e-15	3.23465e-15	0.639603	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156695	55156695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:55156695G>T	ENST00000257290.5	+	22	3427	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E792D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1032					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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	p.E1032D(2)		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)	CTGAGGAGGAGGACCTGGGCA	0.587000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	226					5.8336e-16	7.98366e-16	0.779181	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374522	95374522	+	RNA	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:95374522A>G	ENST00000494840.1	-	0	1339					NR_077228.1																						TTATTTATTAACTTCAACAAT	0.433000													4	25					0	0	0.184627	0	0
SLC6A15	55117	broad.mit.edu	37	12	85279239	85279239	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:85279239A>T	ENST00000450363.3	-	4	1007	c.549T>A	c.(547-549)ccT>ccA	p.P183P	SLC6A15_ENST00000266682.5_Silent_p.P183P|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Silent_p.P76P	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	183					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P183P(4)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCACCAAAGGACACTGAT	0.368000													25	54					0	0	0.693898	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211830	107211830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:107211830C>T	ENST00000400198.3	-	2	767	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ARGLU1_ENST00000375926.1_Silent_p.K24K	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	175	Glu-rich.							p.E175K(2)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGCTCGAGTTCTTCGAGCAAC	0.488000													25	153					0	0	0.681144	0	0
TICRR	90381	broad.mit.edu	37	15	90128938	90128938	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:90128938G>T	ENST00000268138.7	+	4	1281		c.e4-1		RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site					TOPBP1-interacting checkpoint and replication regulator									p.?(2)									TTCTCACGTAGGTTGCTGATG	0.448000													3	35					0.115264	0.11807	0.115264	1	0
OMD	4958	broad.mit.edu	37	9	95179363	95179363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:95179363G>T	ENST00000375550.4	-	2	753	c.478C>A	c.(478-480)Ctt>Att	p.L160I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	160					cell adhesion	proteinaceous extracellular matrix		p.L160I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GATTTAGGAAGAGGAAATGGA	0.348000			T	USP6	aneurysmal bone cysts								18	143					4.96729e-08	5.70109e-08	0.575678	1	0
RGPD3	653489	broad.mit.edu	37	2	107041047	107041047	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:107041047A>T	ENST00000409886.3	-	20	3463	c.3376T>A	c.(3376-3378)Tca>Aca	p.S1126T	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1126	RanBD1 1.				intracellular transport		binding	p.S1126T(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTCTATCTGATCCAGAGAGG	0.433000													60	591					0	0	0.870114	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753502	25753502	+	RNA	SNP	C	C	T	rs35094692	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:25753502C>T	ENST00000586223.1	+	0	1512					NR_033892.1																						CTCGGGCTCACCCCGTGCCTG	0.567000													4	69					0	0	0.278610	0	0
CD1E	913	broad.mit.edu	37	1	158325684	158325684	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158325684T>C	ENST00000444681.2	+	3	689	c.396T>C	c.(394-396)caT>caC	p.H132H	CD1E_ENST00000368163.3_Silent_p.H231H|CD1E_ENST00000368161.3_Silent_p.H231H|CD1E_ENST00000434258.1_Silent_p.H229H|CD1E_ENST00000368155.3_Silent_p.H141H|CD1E_ENST00000368160.3_Silent_p.H231H|CD1E_ENST00000368166.3_Silent_p.H42H|CD1E_ENST00000368165.3_Silent_p.H141H|CD1E_ENST00000368154.1_Silent_p.H42H|CD1E_ENST00000452291.2_Silent_p.H42H|CD1E_ENST00000368157.1_Silent_p.H42H|CD1E_ENST00000368167.3_Silent_p.H231H|CD1E_ENST00000368156.1_Silent_p.H141H|CD1E_ENST00000368164.3_Silent_p.H42H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	231					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.H231H(2)		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)					TTGTGTGCCATGTCTCAGGAT	0.582000													39	108					0	0	0.859065	0	0
MS4A6E	245802	broad.mit.edu	37	11	60102398	60102398	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:60102398C>G	ENST00000300182.4	+	1	95	c.30C>G	c.(28-30)acC>acG	p.T10T		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	10			T -> A (in dbSNP:rs2304934).			integral to membrane	receptor activity	p.T10T(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CCAATGAGACCATCATAATGC	0.443000													30	216					0	0	0.834066	0	0
CHD4	1108	broad.mit.edu	37	12	6697022	6697022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:6697022C>G	ENST00000309577.6	-	24	3722	c.3559G>C	c.(3559-3561)Gtg>Ctg	p.V1187L	CHD4_ENST00000544040.1_Missense_Mutation_p.V1180L|CHD4_ENST00000544484.1_Missense_Mutation_p.V1184L|CHD4_ENST00000357008.2_Missense_Mutation_p.V1187L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1187	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V1187L(4)		central_nervous_system(2)	2						TTCTTTGCCACCTGCGTGATG	0.517000													14	229					0	0	0.457914	0	0
OR4P4	81300	broad.mit.edu	37	11	55405957	55405957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:55405957C>G	ENST00000314612.2	+	1	124	c.124C>G	c.(124-126)Ctc>Gtc	p.L42V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L42V(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGGAAACTTACTCATAATGAT	0.383000													47	113					0	0	0.870114	0	0
THADA	63892	broad.mit.edu	37	2	43801863	43801863	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:43801863C>T	ENST00000403856.1	-	12	1488	c.1341G>A	c.(1339-1341)ttG>ttA	p.L447L	THADA_ENST00000404790.1_Silent_p.L447L|THADA_ENST00000330266.7_Silent_p.L157L|THADA_ENST00000402360.2_Silent_p.L447L|THADA_ENST00000415080.2_Silent_p.L157L|THADA_ENST00000405975.2_Silent_p.L447L|THADA_ENST00000405006.4_Silent_p.L447L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	447							binding	p.L447L(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATGCCATTCCAATCGTAAAA	0.403000													26	164					0	0	0.717897	0	0
OVCH1	341350	broad.mit.edu	37	12	29598250	29598250	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:29598250C>T	ENST00000318184.5	-	23	2841	c.2842G>A	c.(2842-2844)Ggt>Agt	p.G948S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	948	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G948S(3)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAAATGCACCTCGTACAAGG	0.373000													55	171					0	0	0.870114	0	0
SREBF2	6721	broad.mit.edu	37	22	42271363	42271363	+	Missense_Mutation	SNP	G	G	A	rs141522422	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:42271363G>A	ENST00000361204.4	+	6	1278	c.1112G>A	c.(1111-1113)aGg>aAg	p.R371K		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	371	Helix-loop-helix motif.|Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	p.R371K(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCGTTCTGAGGAAGGCCATT	0.473000													4	108					0	0	0.184627	0	0
FAM124B	79843	broad.mit.edu	37	2	225266018	225266018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:225266018G>T	ENST00000389874.3	-	1	693	c.468C>A	c.(466-468)taC>taA	p.Y156*	FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Y156*|FAM124B_ENST00000409685.3_Nonsense_Mutation_p.Y156*	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	156							protein binding	p.Y156*(4)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGATCATCTCGTAGAGTCTGA	0.522000													26	195					4.39465e-27	6.87089e-27	0.769981	1	0
RGS20	8601	broad.mit.edu	37	8	54859271	54859271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:54859271C>A	ENST00000297313.3	+	4	798	c.706C>A	c.(706-708)Cac>Aac	p.H236N	RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.H121N|RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.H89N	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	236					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H236N(2)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AATAGCTTCCCACGAACTCAG	0.408000													9	130					5.50884e-06	6.16843e-06	0.411799	1	0
BCHE	590	broad.mit.edu	37	3	165548428	165548428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:165548428G>T	ENST00000264381.3	-	2	560	c.394C>A	c.(394-396)Cca>Aca	p.P132T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	132					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.P132T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GCATTTTTTGGTTTAGGTGCT	0.398000													24	100					7.38237e-10	8.85533e-10	0.706142	1	0
NUDCD1	84955	broad.mit.edu	37	8	110334668	110334668	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110334668T>C	ENST00000239690.4	-	2	517	c.143A>G	c.(142-144)gAt>gGt	p.D48G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D19G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	48								p.D48G(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATATTGATCATCTCGAAGTTT	0.368000													40	239					0	0	0.870114	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784480	27784480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:27784480G>T	ENST00000261588.4	+	23	4278	c.4259G>T	c.(4258-4260)gGc>gTc	p.G1420V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1420								p.G1420V(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCCTCACCGGCCTGGAGCTG	0.498000													6	19					0.00198382	0.00209587	0.248553	1	0
C10orf90	118611	broad.mit.edu	37	10	128118409	128118409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:128118409G>C	ENST00000284694.7	-	7	2028	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	C10orf90_ENST00000454341.1_Missense_Mutation_p.F539L|C10orf90_ENST00000544758.1_Missense_Mutation_p.F733L|C10orf90_ENST00000480379.1_Missense_Mutation_p.F40L|C10orf90_ENST00000356858.3_Missense_Mutation_p.F589L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	636								p.F636L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTTGGGTTTGAACAAGTTAT	0.378000													15	95					0	0	0.539581	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667825	60667825	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:60667825C>A	ENST00000400324.4	-	4	652	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DIAPH3_ENST00000400319.1_Silent_p.R74R|DIAPH3_ENST00000400330.1_Silent_p.R144R|DIAPH3_ENST00000377908.2_Silent_p.R133R|DIAPH3_ENST00000267215.4_Silent_p.R144R|DIAPH3_ENST00000400320.1_Intron	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTCCTTTTCCCGCAATGGTG	0.333000													14	82					0.000132079	0.000142521	0.575678	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597000													40	110					0	0	0.847076	0	0
GFRAL	389400	broad.mit.edu	37	6	55223728	55223728	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:55223728G>A	ENST00000340465.2	+	6	830	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	248						integral to membrane	receptor activity	p.V248V(2)		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)			GGCAGCGTGTGACTAGAAAGT	0.373000													90	471					0	0	0.870114	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825920	146825920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:146825920T>G	ENST00000361727.3	+	7	1591	c.1075T>G	c.(1075-1077)Tca>Gca	p.S359A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	359	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S359A(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTAGAGCCCTCAAATGTGGT	0.358000										HNSCC(39;0.1)			16	131					0	0	0.557998	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123471	108123471	+	Splice_Site	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:108123471G>C	ENST00000374720.3	+	8	1007		c.e8-1		SLC44A1_ENST00000343170.7_Splice_Site|SLC44A1_ENST00000374723.1_Splice_Site|SLC44A1_ENST00000374724.1_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1							integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.?(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGTCTCCAGGAGGCACAGG	0.408000													24	161					0	0	0.717897	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013262	183013262	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:183013262T>A	ENST00000328913.3	-	13	1798	c.1501A>T	c.(1501-1503)Aaa>Taa	p.K501*	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.K501*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K501*(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCTGGGCTTTGGCCTACAGT	0.488000													56	167					0	0	0.870114	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													5	23					0	0	0.335167	0	0
KCNT2	343450	broad.mit.edu	37	1	196395118	196395118	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:196395118C>A	ENST00000367433.5	-	11	1086	c.984_splice	c.e11-1	p.D329_splice	KCNT2_ENST00000367431.4_Splice_Site_p.D329_splice|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.D329_splice			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	329						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D329Y(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATAATAATCCTATTCAAAA	0.318000													16	48					3.32936e-07	3.79532e-07	0.539581	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777518	43777518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:43777518C>T	ENST00000389420.3	-	31	4639	c.4640G>A	c.(4639-4641)tGt>tAt	p.C1547Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1547	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.C1547Y(2)|p.R1547K(2)		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)		TTTTCTCTCACATGATGTTGA	0.348000													74	235					0	0	0.870114	0	0
NLRP2	55655	broad.mit.edu	37	19	55508760	55508760	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:55508760C>T	ENST00000543010.1	+	12	3098	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	NLRP2_ENST00000448584.2_Silent_p.V985V|NLRP2_ENST00000339757.7_Silent_p.V963V|NLRP2_ENST00000427260.2_Silent_p.V962V|NLRP2_ENST00000391721.4_Silent_p.V961V|NLRP2_ENST00000538819.1_Silent_p.V961V|NLRP2_ENST00000537859.1_Silent_p.V963V|NLRP2_ENST00000263437.6_Silent_p.V982V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	985					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V985V(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGCCTCGTCACTCTGGACC	0.542000													34	143					0	0	0.812448	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	73					1.28384e-07	1.46683e-07	0.608945	1	0
TBC1D1	23216	broad.mit.edu	37	4	38097636	38097636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:38097636G>T	ENST00000261439.4	+	14	2678	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.E869*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	775						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TACAGTGTGGGAAAAGATGCT	0.413000													36	235					4.16155e-14	5.43044e-14	0.840704	1	0
IL1F10	84639	broad.mit.edu	37	2	113832364	113832364	+	Silent	SNP	C	C	T	rs34320972	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:113832364C>T	ENST00000393197.2	+	3	604	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_ENST00000337569.3_Silent_p.I61I|IL1F10_ENST00000341010.2_Silent_p.I61I	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	61						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I61I(2)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582000													7	130					0	0	0.248553	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:150840204C>G	ENST00000370357.4	+	13	1635	c.1390C>G	c.(1390-1392)Ctc>Gtc	p.L464V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	464						nucleus	signal transducer activity	p.L464V(4)|p.L464F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000													26	106					0	0	0.750413	0	0
CGNL1	84952	broad.mit.edu	37	15	57731244	57731244	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:57731244A>G	ENST00000281282.5	+	2	1125	c.1047A>G	c.(1045-1047)tcA>tcG	p.S349S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	349	Head.					myosin complex|tight junction	motor activity	p.S349S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATACAGGATCAATTCCTGGTG	0.428000													22	97					0	0	0.681144	0	0
TLN2	83660	broad.mit.edu	37	15	62993362	62993362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:62993362C>G	ENST00000561311.1	+	16	1875	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q549E			Q9Y4G6	TLN2_HUMAN	talin 2	549					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.Q549E(2)		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						AATCCATTCTCAAGTTGATGC	0.473000													16	65					0	0	0.624587	0	0
AMOT	154796	broad.mit.edu	37	X	112024171	112024171	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:112024171T>A	ENST00000371959.3	-	9	2415	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S	AMOT_ENST00000304758.1_Missense_Mutation_p.T397S|AMOT_ENST00000524145.1_Missense_Mutation_p.T806S|AMOT_ENST00000371962.1_Missense_Mutation_p.T574S|AMOT_ENST00000371958.1_Missense_Mutation_p.T574S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	806					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T806S(2)|p.T397S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGGGAGCCAGTCAGGGTGGAT	0.522000													50	129					0	0	0.870114	0	0
GFPT1	2673	broad.mit.edu	37	2	69556903	69556903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:69556903C>A	ENST00000357308.4	-	16	1688	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	GFPT1_ENST00000361060.4_Missense_Mutation_p.V486L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	504	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.V486L(2)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCAAACATCACAAGGGATACA	0.398000													36	251					1.00953e-15	1.37787e-15	0.864702	1	0
SLC12A2	6558	broad.mit.edu	37	5	127516628	127516628	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:127516628T>A	ENST00000262461.2	+	23	3343	c.3154T>A	c.(3154-3156)Tgt>Agt	p.C1052S	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.C1036S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1052					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.C1052S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAAAGACTGTAAGATCAG	0.328000													116	300					0	0	0.870114	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814500	106814500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:106814500G>C	ENST00000407775.2	+	8	2440	c.2190G>C	c.(2188-2190)caG>caC	p.Q730H	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q461H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q598H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	730					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	p.Q730H(2)		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)			CTGCCATGCAGAGAACCATGC	0.522000													11	68					0	0	0.387290	0	0
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:135438316C>A	ENST00000394143.1	+	9	7210	c.6919C>A	c.(6919-6921)Cga>Aga	p.R2307R	GPR112_ENST00000412101.1_Silent_p.R2102R|GPR112_ENST00000370652.1_Silent_p.R2307R|GPR112_ENST00000394141.1_Silent_p.R2102R|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2307R(3)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTCATGGATCGAGCTATTGT	0.343000													33	96					2.2871e-25	3.53206e-25	0.834066	1	0
FOPNL	123811	broad.mit.edu	37	16	15967411	15967411	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:15967411C>A	ENST00000255759.6	-	4	414	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	FOPNL_ENST00000573429.1_Missense_Mutation_p.G153W|FOPNL_ENST00000573396.1_Intron|FOPNL_ENST00000575073.1_Intron|FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000575744.1_Missense_Mutation_p.G63W	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	129					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	p.G129W(2)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AGTGAAGGCCCTTTCAGAAAT	0.418000													40	150					3.54909e-21	5.21015e-21	0.859065	1	0
FANK1	92565	broad.mit.edu	37	10	127685120	127685120	+	Splice_Site	SNP	C	C	T	rs141545587		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:127685120C>T	ENST00000368695.1	+	5	504	c.380_splice	c.e5-1	p.R128_splice	FANK1_ENST00000368693.1_Splice_Site_p.R134_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	134						cytoplasm|nucleus		p.R134C(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TTTCCCAAGCCGTGTTAAGGT	0.448000													42	315					0	0	0.870114	0	0
FRZB	2487	broad.mit.edu	37	2	183723563	183723563	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:183723563T>A	ENST00000295113.4	-	2	1088		c.e2-2			NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein						brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TAGGAAAATCTGAAAGGAGGT	0.348000													49	172					0	0	0.870114	0	0
VPS13B	157680	broad.mit.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:100205158C>G	ENST00000395996.1	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L796L|VPS13B_ENST00000355155.1_Silent_p.L796L|VPS13B_ENST00000358544.2_Silent_p.L796L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373000													15	432					0	0	0.520397	0	0
OR5L1	219437	broad.mit.edu	37	11	55579766	55579766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:55579766C>A	ENST00000333973.2	+	1	913	c.824C>A	c.(823-825)aCc>aAc	p.T275N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGTGGCCACCGTGTTCTAC	0.468000													32	142					3.78316e-11	4.71727e-11	0.819951	1	0
OR51L1	119682	broad.mit.edu	37	11	5020771	5020771	+	Missense_Mutation	SNP	C	C	A	rs150980273	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:5020771C>A	ENST00000321543.1	+	1	559	c.559C>A	c.(559-561)Cta>Ata	p.L187I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187I(2)		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)		CCAGGATGTTCTAAGATTATC	0.448000													52	347					2.14255e-21	3.17298e-21	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:138764850G>C	ENST00000242351.5	-	4	1153	c.837C>G	c.(835-837)atC>atG	p.I279M	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I279M|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I279M	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582000													14	170					0	0	0.457914	0	0
NPAP1	23742	broad.mit.edu	37	15	24923924	24923924	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:24923924T>G	ENST00000329468.2	+	1	3384	c.2910T>G	c.(2908-2910)agT>agG	p.S970R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S970R(2)									ACAATGCAAGTGCTTTCCCCA	0.478000													13	71					0	0	0.435327	0	0
FAM83B	222584	broad.mit.edu	37	6	54805781	54805781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:54805781C>A	ENST00000306858.7	+	5	2128	c.2012C>A	c.(2011-2013)tCa>tAa	p.S671*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	671								p.S671*(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTGACAACTCAAAAGCCAAC	0.353000													13	100					1.5739e-10	1.93858e-10	0.500413	1	0
DROSHA	29102	broad.mit.edu	37	5	31526186	31526186	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:31526186C>A	ENST00000511367.2	-	4	1098	c.854_splice	c.e4+1	p.R285_splice	DROSHA_ENST00000513349.1_Splice_Site_p.R285_splice|DROSHA_ENST00000344624.3_Splice_Site_p.R285_splice|DROSHA_ENST00000442743.1_Splice_Site_p.R285_splice	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	285	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R285I(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCGGTTTACCTGCTCCGTTC	0.527000													44	157					1.54886e-18	2.17876e-18	0.870114	1	0
CDH7	1005	broad.mit.edu	37	18	63547963	63547963	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:63547963C>A	ENST00000397968.2	+	12	2617	c.2191C>A	c.(2191-2193)Cag>Aag	p.Q731K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q731K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	731					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q731K(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACTCCCTGCAGACATATGC	0.398000													23	127					6.32553e-13	8.02611e-13	0.681144	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:140346519G>A	ENST00000289269.5	+	1	700	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		56	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCGGCGCGCTCGTGGGCA	0.692000													3	4					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	216251604	216251604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216251604C>G	ENST00000366943.2	-	27	5785	c.5399G>C	c.(5398-5400)tGg>tCg	p.W1800S	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.W1800S|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1800	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W1800S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTTTATTCCACTTTCCATT	0.433000										HNSCC(13;0.011)			207	523					0	0	0.870114	0	0
PTPN9	5780	broad.mit.edu	37	15	75766070	75766070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:75766070C>A	ENST00000306726.2	-	10	1680	c.1168G>T	c.(1168-1170)Gta>Tta	p.V390L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	390	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.V390L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCCATACCATGAGCCAG	0.443000													55	233					1.77791e-30	2.81457e-30	0.870114	1	0
MYO1C	4641	broad.mit.edu	37	17	1385813	1385813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:1385813T>A	ENST00000359786.5	-	5	910	c.586A>T	c.(586-588)Agc>Tgc	p.S196C	MYO1C_ENST00000575158.1_Missense_Mutation_p.S161C|MYO1C_ENST00000361007.2_Missense_Mutation_p.S161C|MYO1C_ENST00000438665.2_Missense_Mutation_p.S177C|MYO1C_ENST00000545534.2_Missense_Mutation_p.S172C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	196	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.S161C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAACCTGCTGGAGTTATCG	0.562000													12	50					0	0	0.457914	0	0
ITGA8	8516	broad.mit.edu	37	10	15688991	15688991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:15688991G>T	ENST00000378076.3	-	12	1414	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	354					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P354H(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACTTCTCTGGGGTTGCTCTC	0.507000													26	153					3.65163e-15	4.89144e-15	0.706142	1	0
SLC6A5	9152	broad.mit.edu	37	11	20668466	20668466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:20668466C>G	ENST00000525748.1	+	14	2329	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	686					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P686A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTTGTAACCCCAACCATTTT	0.408000													14	205					0	0	0.457914	0	0
EPHA6	285220	broad.mit.edu	37	3	96706286	96706286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:96706286G>T	ENST00000389672.5	+	3	601	c.563G>T	c.(562-564)cGt>cTt	p.R188L	EPHA6_ENST00000470610.2_Missense_Mutation_p.R188L|EPHA6_ENST00000542517.1_Missense_Mutation_p.R94L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	93	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R94L(4)|p.R188L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGATCTCCCGTGATGCAGCT	0.403000													86	220					1.3009e-50	2.17535e-50	0.870114	1	0
FATE1	89885	broad.mit.edu	37	X	150889897	150889897	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:150889897A>T	ENST00000370350.3	+	3	350	c.265A>T	c.(265-267)Aga>Tga	p.R89*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	89						endoplasmic reticulum|integral to membrane		p.R89*(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAATGCTGAGAGAATCAGG	0.542000													41	78					0	0	0.859065	0	0
ABCA6	23460	broad.mit.edu	37	17	67102211	67102211	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:67102211C>T	ENST00000284425.2	-	19	2705	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	844					transport	integral to membrane	ATP binding|ATPase activity	p.R844H(2)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTTTAAGAAACGGAGCCGTGC	0.433000													23	164					0	0	0.740014	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508135	65508135	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:65508135C>T	ENST00000355045.2	-	2	276		c.e2+1			NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.?(2)									CAGAGCCTTACCTCTCAGACT	0.542000													69	707					0	0	0.870114	0	0
LOC645752	645752	broad.mit.edu	37	15	78213760	78213760	+	RNA	SNP	C	C	T	rs4886968	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:78213760C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTATTGCAGGCGGCCAGCCAG	0.542000													3	23					0	0	0.150653	0	0
FNDC1	84624	broad.mit.edu	37	6	159654335	159654335	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:159654335T>A	ENST00000297267.9	+	11	2991	c.2791T>A	c.(2791-2793)Tcc>Acc	p.S931T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S868T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	931						extracellular region		p.S931T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAACCCCAAATCCACAGGGGC	0.612000													9	47					0	0	0.387290	0	0
OR6V1	346517	broad.mit.edu	37	7	142749605	142749605	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142749605C>G	ENST00000418316.1	+	1	189	c.168C>G	c.(166-168)ccC>ccG	p.P56P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56P(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TACATACACCCATGTACTTCT	0.498000													119	653					0	0	0.870114	0	0
DNAH1	25981	broad.mit.edu	37	3	52430796	52430796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:52430796G>A	ENST00000420323.2	+	72	11854	c.11593G>A	c.(11593-11595)Gat>Aat	p.D3865N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3930	AAA 6 (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	p.D3929N(2)|p.D3865N(2)		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)		GGACGAATATGATGACATCCC	0.582000													20	143					0	0	0.667858	0	0
C17orf66	256957	broad.mit.edu	37	17	34192287	34192287	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:34192287G>T	ENST00000311880.2	-	3	400	c.252C>A	c.(250-252)caC>caA	p.H84Q	C17orf66_ENST00000592980.1_Missense_Mutation_p.H84Q|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	84							binding	p.H84Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CATACAGGTCGTGCCAGTGCG	0.507000													46	213					9.52127e-25	1.46593e-24	0.870114	1	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:32631037G>T	ENST00000266086.4	-	8	719	c.708C>A	c.(706-708)taC>taA	p.Y236*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000													50	393					3.31993e-32	5.35643e-32	0.870114	1	0
C9orf64	84267	broad.mit.edu	37	9	86559772	86559772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:86559772G>A	ENST00000376344.3	-	3	946	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.Q103*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	244								p.Q244*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAAGAACCTGAGGTAATCTA	0.403000													36	185					0	0	0.819951	0	0
OR1N1	138883	broad.mit.edu	37	9	125289132	125289132	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:125289132C>A	ENST00000304880.2	-	1	440	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147C(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGAGGACCCAGCACAATG	0.537000													29	143					1.80694e-10	2.20412e-10	0.740014	1	0
F13A1	2162	broad.mit.edu	37	6	6224933	6224933	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:6224933C>A	ENST00000264870.3	-	7	1224	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	320					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G320V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTAAAGACACCAGCAAAAAC	0.418000													29	212					3.33393e-15	4.4897e-15	0.804634	1	0
GRID2	2895	broad.mit.edu	37	4	94436452	94436452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:94436452G>T	ENST00000282020.4	+	13	2341	c.2083G>T	c.(2083-2085)Gga>Tga	p.G695*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.G600*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	695					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G695*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCGCATGAAAGGACTGAATCC	0.488000													26	148					1.66031e-10	2.03016e-10	0.667858	1	0
COL24A1	255631	broad.mit.edu	37	1	86488678	86488678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:86488678G>A	ENST00000370571.2	-	15	2428	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P688S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	688	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent	p.P688S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTCCCACAGGGCCAACACTG	0.368000													8	74					0	0	0.387290	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250954	142250954	+	RNA	SNP	G	G	T	rs361438		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142250954G>T	ENST00000390360.3	-	0	113																											CTGCTGCCAGGATCTGAGATG	0.522000													43	195					6.1719e-39	1.01195e-38	0.870114	1	0
PTPRC	5788	broad.mit.edu	37	1	198668802	198668802	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:198668802C>T	ENST00000367376.2	+	5	573	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PTPRC_ENST00000352140.3_Silent_p.L134L|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Silent_p.L136L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	134					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L134L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGCAAAACTCAACCCTACCC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	284					0	0	0.847076	0	0
TRIM69	140691	broad.mit.edu	37	15	45059966	45059966	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:45059966A>T	ENST00000558173.1	+	5	5632	c.887A>T	c.(886-888)cAg>cTg	p.Q296L	TRIM69_ENST00000329464.4_Missense_Mutation_p.Q500L|TRIM69_ENST00000561043.1_Missense_Mutation_p.Q263L|TRIM69_ENST00000559390.1_Missense_Mutation_p.Q500L|TRIM69_ENST00000558329.1_Missense_Mutation_p.Q279L|TRIM69_ENST00000560442.1_Missense_Mutation_p.Q296L|TRIM69_ENST00000338264.4_Missense_Mutation_p.Q341L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	500					apoptosis	nuclear speck	zinc ion binding	p.Q500L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTACATCCACAGTAATGAGTC	0.358000													61	200					0	0	0.870114	0	0
GPRASP2	114928	broad.mit.edu	37	X	101972152	101972152	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:101972152G>A	ENST00000543253.1	+	5	3274	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q	GPRASP2_ENST00000332262.5_Silent_p.Q785Q|GPRASP2_ENST00000535209.1_Silent_p.Q785Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.Q785Q(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGTTTCAGAATATCAGTA	0.303000													12	148					0	0	0.457914	0	0
ITGA11	22801	broad.mit.edu	37	15	68631901	68631901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:68631901G>A	ENST00000423218.2	-	11	1308	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P405S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCGCGGAGAGGAATGACCTTC	0.607000													9	54					0	0	0.411799	0	0
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:98146809G>T	ENST00000357947.3	-	14	1978	c.1753C>A	c.(1753-1755)Cac>Aac	p.H585N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592000													32	109					8.72198e-27	1.35526e-26	0.870114	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110396316	110396316	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110396316C>T	ENST00000378402.5	+	5	539	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	145					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T145T(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTTAGAACCCCAACAATAA	0.284000										HNSCC(38;0.096)			7	118					0	0	0.278610	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885024	50885024	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:50885024C>T	ENST00000404795.3	-	3	1334	c.942G>A	c.(940-942)cgG>cgA	p.R314R	DMRTA2_ENST00000418121.1_Silent_p.R314R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R314R(2)		endometrium(1)|lung(4)|pancreas(1)	6						CCAGCGGCGTCCGCTGCCGTG	0.697000													5	33					0	0	0.278610	0	0
KCNA6	3742	broad.mit.edu	37	12	4919483	4919483	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:4919483C>T	ENST00000433855.1	+	1	1142	c.276C>T	c.(274-276)agC>agT	p.S92S	KCNA6_ENST00000280684.3_Silent_p.S92S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	92						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S92S(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCGGCCCAGCTTCGACGCCA	0.637000										HNSCC(72;0.22)			10	95					0	0	0.361761	0	0
DHX32	55760	broad.mit.edu	37	10	127569217	127569217	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:127569217T>A	ENST00000284690.3	-	1	667	c.177A>T	c.(175-177)agA>agT	p.R59S	DHX32_ENST00000284688.6_Missense_Mutation_p.R59S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	59						mitochondrion|nucleus	ATP binding|helicase activity	p.R59S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAGATCTTCTCTTTCTTTCA	0.383000													15	94					0	0	0.520397	0	0
OR51D1	390038	broad.mit.edu	37	11	4661252	4661252	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:4661252A>G	ENST00000357605.2	+	1	308	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M78V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCCTGGCCATGCTTTCCAC	0.512000													49	264					0	0	0.870114	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197502	95197502	+	Silent	SNP	G	G	T	rs111425618		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:95197502G>T	ENST00000354268.4	+	15	1894	c.1821G>T	c.(1819-1821)gcG>gcT	p.A607A	SMARCAD1_ENST00000509418.1_Silent_p.A177A|SMARCAD1_ENST00000457823.2_Silent_p.A607A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	607	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.A607A(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATAACTGTGCGATCAGCAGTT	0.368000													14	82					4.7546e-09	5.63633e-09	0.500413	1	0
TPX2	22974	broad.mit.edu	37	20	30388777	30388777	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:30388777A>G	ENST00000340513.4	+	19	2774	c.2246A>G	c.(2245-2247)cAt>cGt	p.H749R	TPX2_ENST00000300403.6_Missense_Mutation_p.H713R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	713					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.H713R(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTGCAGGTGCATAAGGCAAAT	0.413000													247	578					0	0	0.870114	0	0
HERC2	8924	broad.mit.edu	37	15	28483346	28483346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:28483346C>A	ENST00000261609.7	-	25	3874	c.3766G>T	c.(3766-3768)Gac>Tac	p.D1256Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1256	Cytochrome b5 heme-binding.				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	p.D1256Y(2)		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)		ACCACTGGGTCTTCCCCTGCA	0.458000													24	146					3.6726e-16	5.05358e-16	0.667858	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43796717	43796717	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:43796717T>C	ENST00000291532.3	-	11	2082	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.Y460C|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.Y375C|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.Y373C	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	376	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	p.Y376C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GATGCCACCGTACACGTCCCT	0.647000													7	101					0	0	0.307466	0	0
ASIC4	55515	broad.mit.edu	37	2	220397143	220397143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:220397143G>T	ENST00000358078.4	+	4	1357	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ASIC4_ENST00000347842.3_Missense_Mutation_p.R448L|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	448						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.R448L(2)									TGCCGGCTGCGCTGTGAAAAG	0.672000													11	43					4.93089e-13	6.28813e-13	0.457914	1	0
SSX3	10214	broad.mit.edu	37	X	48209509	48209509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:48209509G>T	ENST00000298396.2	-	6	431	c.379C>A	c.(379-381)Cca>Aca	p.P127T	SSX3_ENST00000376895.1_Missense_Mutation_p.P39T|SSX3_ENST00000376893.3_Missense_Mutation_p.P127T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P127T(4)		endometrium(3)|large_intestine(1)|lung(9)	13						GATGCTTCTGGCACTTCCTTC	0.438000													87	241					2.07245e-51	3.47704e-51	0.870114	1	0
DUSP6	1848	broad.mit.edu	37	12	89743161	89743161	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:89743161T>A	ENST00000279488.7	-	3	2247	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	DUSP6_ENST00000308385.6_Missense_Mutation_p.Q193L|DUSP6_ENST00000547291.1_Missense_Mutation_p.Q214L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	339	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Q339L(2)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTCCAGCAGCTGACCCATGAA	0.478000													52	160					0	0	0.870114	0	0
BEST4	266675	broad.mit.edu	37	1	45253101	45253101	+	Nonsense_Mutation	SNP	G	G	A	rs138830699		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:45253101G>A	ENST00000372207.3	-	2	189	c.190C>T	c.(190-192)Cag>Tag	p.Q64*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	64						chloride channel complex|plasma membrane	chloride channel activity	p.Q64*(2)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGGGCCACCTGAGCATACACG	0.587000													44	284					0	0	0.870114	0	0
OR2M5	127059	broad.mit.edu	37	1	248308701	248308701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248308701C>A	ENST00000366476.1	+	1	252	c.252C>A	c.(250-252)aaC>aaA	p.N84K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N84K(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGGCCTTCAACTACTTGTCTG	0.493000													357	1042					1.54419e-88	2.62565e-88	0.870114	1	0
MRC2	9902	broad.mit.edu	37	17	60754829	60754829	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:60754829A>T	ENST00000303375.5	+	12	2436	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	678	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K678N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACACCAAACTCCGGTATT	0.662000													5	18					0	0	0.278610	0	0
LPL	4023	broad.mit.edu	37	8	19818481	19818481	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:19818481C>G	ENST00000311322.8	+	8	1679	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	403	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.L403L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GAGAACTACTCATGTTGAAGC	0.408000													59	275					0	0	0.870114	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542719	26542719	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:26542719G>T	ENST00000381655.2	+	35	3421	c.3279G>T	c.(3277-3279)aaG>aaT	p.K1093N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.K1028N	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1053					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K1093N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACAGAGCCAAGCACACCTGCA	0.527000													8	48					0.000442599	0.000472543	0.335167	1	0
LRP1B	53353	broad.mit.edu	37	2	141130585	141130585	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:141130585C>A	ENST00000389484.3	-	69	11731	c.10760G>T	c.(10759-10761)tGt>tTt	p.C3587F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3587	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3587F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGGCTCACAGCTTTTCTC	0.363000										TSP Lung(27;0.18)			32	227					1.04594e-18	1.47542e-18	0.819951	1	0
MYH2	4620	broad.mit.edu	37	17	10426485	10426485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10426485C>A	ENST00000245503.5	-	39	5979	c.5595G>T	c.(5593-5595)aaG>aaT	p.K1865N	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1865N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1865					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1865N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGAATATTCTTTCTATCTT	0.333000													12	65					3.27435e-08	3.78386e-08	0.457914	1	0
COL6A3	1293	broad.mit.edu	37	2	238289824	238289824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:238289824C>A	ENST00000295550.4	-	5	2083	c.1631G>T	c.(1630-1632)cGg>cTg	p.R544L	COL6A3_ENST00000347401.3_Missense_Mutation_p.R343L|COL6A3_ENST00000353578.4_Missense_Mutation_p.R338L|COL6A3_ENST00000409809.1_Missense_Mutation_p.R338L|COL6A3_ENST00000392003.2_Missense_Mutation_p.R137L|COL6A3_ENST00000472056.1_Missense_Mutation_p.R137L|COL6A3_ENST00000346358.4_Missense_Mutation_p.R544L|COL6A3_ENST00000392004.3_Missense_Mutation_p.R338L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	544	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R338L(2)|p.R544L(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGGCAGCCCGGTAGCCGGC	0.557000													40	159					3.54909e-21	5.21015e-21	0.859065	1	0
SH3BP5L	80851	broad.mit.edu	37	1	249107242	249107242	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.I187I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652000													9	46					0	0	0.411799	0	0
IMMT	10989	broad.mit.edu	37	2	86371798	86371798	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:86371798C>T	ENST00000410111.3	-	15	2257	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	IMMT_ENST00000409051.2_Missense_Mutation_p.G577R|IMMT_ENST00000449247.2_Missense_Mutation_p.G613R|IMMT_ENST00000254636.5_Missense_Mutation_p.G525R|IMMT_ENST00000442664.2_Missense_Mutation_p.G623R	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	624						integral to mitochondrial inner membrane	protein binding	p.G624R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTACACCCCACGGGTCAGG	0.498000													33	239					0	0	0.827153	0	0
ADCY2	108	broad.mit.edu	37	5	7698359	7698359	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:7698359G>T	ENST00000338316.4	+	7	1070		c.e7-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTCTTCCAGGAGAATGAAT	0.388000													28	165					2.87994e-29	4.54491e-29	0.729181	1	0
UGDH	7358	broad.mit.edu	37	4	39511522	39511522	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:39511522T>C	ENST00000316423.6	-	6	1011	c.669A>G	c.(667-669)gcA>gcG	p.A223A	UGDH_ENST00000506179.1_Silent_p.A223A|UGDH_ENST00000501493.2_Silent_p.A156A|UGDH_ENST00000507089.1_Silent_p.A126A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	223	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.A223A(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAAAAGCATTTGCTGCCTTAA	0.363000													5	35					0	0	0.248553	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265006	32265006	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:32265006C>A	ENST00000398664.3	+	1	967	c.332C>A	c.(331-333)cCt>cAt	p.P111H	TP53TG3D_ENST00000569631.1_Intron|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.P111H|RP11-56L13.7_ENST00000562604.1_RNA	NM_001243722.1	NP_001230651.1			TP53 target 3D									p.P111H(4)									GGTCGGTGGCCTCTCACTGCC	0.587000													13	137					4.7546e-09	5.63633e-09	0.500413	1	0
ANK2	287	broad.mit.edu	37	4	114279402	114279402	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:114279402A>G	ENST00000357077.4	+	38	9681	c.9628A>G	c.(9628-9630)Act>Gct	p.T3210A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T3177A|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3177					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3210A(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCAGCCTCCACTGAAACACC	0.483000													34	179					0	0	0.796494	0	0
NUFIP2	57532	broad.mit.edu	37	17	27614038	27614038	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:27614038G>A	ENST00000225388.4	-	2	1032	c.974C>T	c.(973-975)tCa>tTa	p.S325L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	325						nucleus|polysomal ribosome	protein binding|RNA binding	p.S325L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GGCAACAGCTGAAGCATGCTT	0.443000													19	122					0	0	0.557998	0	0
HYDIN	54768	broad.mit.edu	37	16	70841870	70841870	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:70841870G>T	ENST00000393567.2	-	86	15129	c.14979C>A	c.(14977-14979)ccC>ccA	p.P4993P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4993								p.P4992P(2)|p.P4944P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGCTGGGCTCGAATA	0.557000													25	182					1.38267e-23	2.09684e-23	0.693898	1	0
FAT4	79633	broad.mit.edu	37	4	126328260	126328260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:126328260G>T	ENST00000394329.3	+	3	5546	c.5533G>T	c.(5533-5535)Gtg>Ttg	p.V1845L	FAT4_ENST00000335110.5_Missense_Mutation_p.V143L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1845L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCAGACCCGTGTACTCTTT	0.408000													24	169					8.4185e-14	1.09289e-13	0.760397	1	0
SERPINB8	5271	broad.mit.edu	37	18	61654176	61654176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:61654176G>T	ENST00000397985.2	+	7	1045	c.789G>T	c.(787-789)aaG>aaT	p.K263N	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.K81N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K263N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	263					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.K263N(2)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAAAAGTAAGGTTCAAGTTT	0.378000													27	143					5.60225e-13	7.12629e-13	0.740014	1	0
REG1P	5969	broad.mit.edu	37	2	79364397	79364397	+	RNA	SNP	G	G	A	rs3819317	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:79364397G>A	ENST00000444841.1	-	0	237																											TAGTAGCAGTGGGAGCCTTAG	0.542000													4	117					0	0	0.150653	0	0
DCT	1638	broad.mit.edu	37	13	95121061	95121061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:95121061G>T	ENST00000377028.5	-	2	947	c.534C>A	c.(532-534)aaC>aaA	p.N178K	DCT_ENST00000446125.1_Missense_Mutation_p.N178K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	178					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.N178K(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAACACTGCAGTTGGCAAACT	0.453000													40	213					1.22674e-20	1.77509e-20	0.840704	1	0
SLC8A1	6546	broad.mit.edu	37	2	40657385	40657385	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:40657385G>T	ENST00000406785.1	-	2	225	c.36C>A	c.(34-36)acC>acA	p.T12T	SLC8A1_ENST00000542756.1_Silent_p.T12T|SLC8A1_ENST00000542024.1_Silent_p.T12T|SLC8A1_ENST00000408028.2_Silent_p.T12T|SLC8A1_ENST00000406391.2_Silent_p.T12T|SLC8A1_ENST00000405901.3_Silent_p.T12T|SLC8A1_ENST00000405269.1_Silent_p.T12T|SLC8A1_ENST00000402441.1_Silent_p.T12T|SLC8A1_ENST00000332839.4_Silent_p.T12T|SLC8A1_ENST00000403092.1_Silent_p.T12T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T12T(3)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGAAAAGGTGGGTGAAA	0.408000													8	115					0.00448238	0.00470603	0.307466	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063015	48063015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:48063015G>A	ENST00000316364.5	+	19	2694	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	SEMA6D_ENST00000537942.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G752E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G677E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G733E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G690E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G709E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G696E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	752					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.G690E(2)|p.G752E(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCACCCAATGGAGATACTAAA	0.483000													23	139					0	0	0.681144	0	0
LSP1	4046	broad.mit.edu	37	11	1905755	1905755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:1905755G>T	ENST00000406638.2	+	7	1777	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	LSP1_ENST00000405957.2_Missense_Mutation_p.D159Y|LSP1_ENST00000381775.1_Missense_Mutation_p.D349Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.D221Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	221					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.D159Y(2)|p.D221Y(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATCCCAGCCAGACTTGCCCAT	0.562000													9	92					4.36969e-10	5.29183e-10	0.435327	1	0
FAM163A	148753	broad.mit.edu	37	1	179782940	179782940	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:179782940C>A	ENST00000341785.4	+	5	516	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	40						integral to membrane		p.T40T(2)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGAGCGGAACCGAGGTTGCAG	0.627000													8	60					2.17888e-05	2.38167e-05	0.335167	1	0
SERPINA6	866	broad.mit.edu	37	14	94776131	94776131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:94776131C>A	ENST00000341584.3	-	3	972	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	276					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGCGATGACTGTGTTCATC	0.557000													29	130					1.55811e-20	2.24173e-20	0.729181	1	0
MYH6	4624	broad.mit.edu	37	14	23853903	23853903	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:23853903C>T	ENST00000405093.3	-	36	5383	c.5313G>A	c.(5311-5313)ctG>ctA	p.L1771L	MYH6_ENST00000356287.3_Silent_p.L1771L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1771					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1771L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCCTTCTTCAGCTCCTCTG	0.622000													8	78					0	0	0.479597	0	0
C1orf173	127254	broad.mit.edu	37	1	75055428	75055428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:75055428G>T	ENST00000326665.5	-	12	2281	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S491Y	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	688	Glu-rich.							p.S688Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGTTTCCCGGACTTCTCAGA	0.458000													36	165					9.17885e-22	1.36333e-21	0.779181	1	0
MUC16	94025	broad.mit.edu	37	19	9075971	9075971	+	Silent	SNP	T	T	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:9075971T>G	ENST00000397910.4	-	3	11678	c.11475A>C	c.(11473-11475)ccA>ccC	p.P3825P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3826	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3825P(4)		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						GCACCTGCCCTGGATGTGCAG	0.507000													109	717					0	0	0.870114	0	0
DPP6	1804	broad.mit.edu	37	7	154684104	154684104	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:154684104T>A	ENST00000404039.1	+	26	2907	c.2320T>A	c.(2320-2322)Tcc>Acc	p.S774T	DPP6_ENST00000377770.3_Missense_Mutation_p.S838T|DPP6_ENST00000427557.1_Missense_Mutation_p.S731T|DPP6_ENST00000332007.3_Missense_Mutation_p.S776T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	838					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S838T(2)|p.S774T(2)|p.S776T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTACCGGTCCATCATCAA	0.507000													23	150					0	0	0.706142	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110477365G>T	ENST00000378402.5	+	49	8408	c.8304G>T	c.(8302-8304)ggG>ggT	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			37	266					7.93934e-33	1.28505e-32	0.819951	1	0
OBSCN	84033	broad.mit.edu	37	1	228511036	228511036	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:228511036G>T	ENST00000570156.2	+	67	18326	c.18252G>T	c.(18250-18252)gtG>gtT	p.V6084V	OBSCN_ENST00000284548.11_Silent_p.V5127V|OBSCN_ENST00000422127.1_Silent_p.V5127V|OBSCN_ENST00000366709.4_Silent_p.V2246V|OBSCN_ENST00000366707.4_Silent_p.V2761V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5127	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.V5709V(2)|p.V5839V(2)|p.V5127V(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCCCAGTGTTCCTGACTG	0.542000													6	10					0.00116845	0.00123703	0.217242	1	0
MMP16	4325	broad.mit.edu	37	8	89131071	89131071	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:89131071T>A	ENST00000286614.6	-	5	1010	c.729A>T	c.(727-729)gtA>gtT	p.V243V	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	243					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.V243V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATGGACTGCTACAAGAAATA	0.378000													20	131					0	0	0.624587	0	0
CHRM3	1131	broad.mit.edu	37	1	240072344	240072344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:240072344G>T	ENST00000255380.4	+	5	2372	c.1593G>T	c.(1591-1593)tgG>tgT	p.W531C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGGCTACTGGCTGTGCTACA	0.483000													50	138					3.40343e-31	5.43902e-31	0.870114	1	0
GPC6	10082	broad.mit.edu	37	13	94482465	94482465	+	Silent	SNP	G	G	T	rs149069159		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:94482465G>T	ENST00000377047.4	+	3	993	c.378G>T	c.(376-378)cgG>cgT	p.R126R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R126R(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTTTGTACGGACCTATGGCA	0.398000													12	64					3.03607e-14	3.99275e-14	0.411799	1	0
DHRSX	207063	broad.mit.edu	37	X	2209645	2209645	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:2209645C>A	ENST00000334651.5	-	4	339		c.e4-1			NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked								binding|oxidoreductase activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAAAATTCCACTGGAAAAGGA	0.378000													20	102					1.28384e-07	1.46683e-07	0.608945	1	0
ESD	2098	broad.mit.edu	37	13	47354087	47354087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:47354087C>A	ENST00000378720.3	-	8	765	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	ESD_ENST00000378697.1_Missense_Mutation_p.D166Y	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	195						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	p.D195Y(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTACTTTGATCTGTTCCCAAA	0.373000													18	129					1.96292e-10	2.38862e-10	0.592651	1	0
SPTA1	6708	broad.mit.edu	37	1	158583603	158583603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158583603G>T	ENST00000368148.3	-	50	7077	c.6897C>A	c.(6895-6897)tgC>tgA	p.C2299*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.C2296*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2299	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.C2299*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCTCTCAGGCAGGACCGGA	0.438000													24	142					1.17739e-12	1.48275e-12	0.693898	1	0
SPOCK3	50859	broad.mit.edu	37	4	167713350	167713350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:167713350G>T	ENST00000357154.3	-	8	826	c.689C>A	c.(688-690)aCa>aAa	p.T230K	SPOCK3_ENST00000511531.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T110K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T134K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T179K|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T227K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T230K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.T227K(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAATGTTTTTGTCTTCTTGTT	0.403000													17	82					9.62636e-23	1.45114e-22	0.624587	1	0
TAF1L	138474	broad.mit.edu	37	9	32632534	32632534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:32632534C>T	ENST00000242310.4	-	1	3133	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1015					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1015H(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAGGCGACGAAGGTCTGC	0.448000													119	580					0	0	0.870114	0	0
CNTN3	5067	broad.mit.edu	37	3	74315674	74315674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:74315674C>G	ENST00000263665.6	-	21	2971	c.2944G>C	c.(2944-2946)Gat>Cat	p.D982H	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	982	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D982H(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTCCCATCCCCTCCATCT	0.408000													59	425					0	0	0.870114	0	0
XIRP2	129446	broad.mit.edu	37	2	168102029	168102029	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:168102029A>T	ENST00000409195.1	+	9	4216	c.4127A>T	c.(4126-4128)cAa>cTa	p.Q1376L	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1154L|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1376L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1201					actin cytoskeleton organization	cell junction	actin binding	p.Q1376L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGTCACACAAGAAGACATT	0.363000													23	177					0	0	0.639603	0	0
USH2A	7399	broad.mit.edu	37	1	216372980	216372980	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216372980G>A	ENST00000366943.2	-	17	4186	c.3800C>T	c.(3799-3801)gCg>gTg	p.A1267V	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.A1267V|USH2A_ENST00000366942.3_Missense_Mutation_p.A1267V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1267	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1267V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTAGTTCCGCTGGTGGAGA	0.428000										HNSCC(13;0.011)			17	189					0	0	0.608945	0	0
MUC16	94025	broad.mit.edu	37	19	9057909	9057909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:9057909G>C	ENST00000397910.4	-	3	29740	c.29537C>G	c.(29536-29538)aCc>aGc	p.T9846S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T9846S(2)|p.T5479S(2)		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						CACAGCGGAGGTGATACCCAT	0.483000													36	244					0	0	0.870114	0	0
LCE3E	353145	broad.mit.edu	37	1	152538599	152538599	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:152538599C>A	ENST00000368789.1	-	2	141	c.86G>T	c.(85-87)tGt>tTt	p.C29F		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	29					keratinization			p.C29F(2)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGAGGCAGACACTGTACTGG	0.632000													36	101					2.95478e-19	4.20327e-19	0.840704	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110439382	110439382	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110439382A>G	ENST00000378402.5	+	25	3101	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	999					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1001L(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAATCTTCTACAGGTTCCCT	0.458000										HNSCC(38;0.096)			8	39					0	0	0.307466	0	0
PTK2	5747	broad.mit.edu	37	8	141712746	141712746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:141712746G>A	ENST00000522684.1	-	25	2519	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q764*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q764*|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000430260.2_Nonsense_Mutation_p.Q74*|PTK2_ENST00000519465.1_Nonsense_Mutation_p.Q392*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000538769.1_Nonsense_Mutation_p.Q432*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q764*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q808*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	764	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.Q716*(2)|p.Q786*(2)|p.Q764*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGAGATGCCTGACCTGGATAG	0.478000													15	164					0	0	0.479597	0	0
FGF5	2250	broad.mit.edu	37	4	81207742	81207742	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:81207742C>G	ENST00000312465.7	+	3	949	c.723C>G	c.(721-723)agC>agG	p.S241R	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	241					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.S241R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCCACCTAGCCCTATCAAGC	0.443000													30	188					0	0	0.769981	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605176	142605176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:142605176C>G	ENST00000370503.2	-	1	127	c.44G>C	c.(43-45)aGc>aCc	p.S15T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	15								p.S15T(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCACAGGGGCTCTTCGTCTT	0.468000													92	178					0	0	0.870114	0	0
HBD	3045	broad.mit.edu	37	11	5254211	5254211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:5254211C>A	ENST00000380299.3	-	3	641	c.427G>T	c.(427-429)Gct>Tct	p.A143S	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	143			A -> D (in Fitzroy).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A143S(2)|p.A143P(1)		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)		TACTTGTGAGCCAGGGCATTA	0.493000													44	325					2.69441e-44	4.46124e-44	0.870114	1	0
ITGAD	3681	broad.mit.edu	37	16	31429491	31429491	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31429491C>A	ENST00000389202.2	+	21	2644	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	865					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P865P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAACCACCCCATCTTCCATG	0.572000													11	94					9.31168e-06	1.04035e-05	0.435327	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139092	126139092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:126139092A>T	ENST00000299308.3	+	9	3081	c.3073A>T	c.(3073-3075)Aag>Tag	p.K1025*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.K537*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1025						integral to membrane		p.K1025*(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAGAGAGTCAAGTTCACTTC	0.458000													33	96					0	0	0.859065	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441505	44441505	+	Silent	SNP	G	G	T	rs148642401		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:44441505G>T	ENST00000291547.5	+	8	1024	c.813G>T	c.(811-813)acG>acT	p.T271T	PKNOX1_ENST00000432907.2_Silent_p.T154T	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	271							sequence-specific DNA binding	p.T271T(2)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGCATGCCACGAACGTGATGC	0.527000													7	56					7.48243e-07	8.4913e-07	0.335167	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			18	67					4.72057e-08	5.43027e-08	0.667858	1	0
BPIFB6	128859	broad.mit.edu	37	20	31619551	31619551	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:31619551G>T	ENST00000349552.1	+	1	97		c.e1+1			NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6							extracellular region	lipid binding	p.?(2)									ATCATGAACCGTGGTGAGCTT	0.642000													8	39					0.0477658	0.0494297	0.307466	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267765	103267765	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:103267765G>A	ENST00000217926.5	-	1	494	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	156					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.S156S(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCGTGCCTTCGGACTCGGCGA	0.662000													20	43					0	0	0.624587	0	0
SYNE3	161176	broad.mit.edu	37	14	95910860	95910860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:95910860C>A	ENST00000334258.5	-	9	1752	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	SYNE3_ENST00000553340.1_Missense_Mutation_p.D580Y|SYNE3_ENST00000554873.1_Missense_Mutation_p.D337Y|SYNE3_ENST00000557275.1_Missense_Mutation_p.D580Y	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.D580Y(6)		breast(1)|endometrium(2)|lung(25)	28						CCAGGAAGGTCCCGCTGAAGC	0.602000													6	37					0.0581538	0.0600565	0.335167	1	0
USH2A	7399	broad.mit.edu	37	1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216251649G>C	ENST00000366943.2	-	27	5740	c.5354C>G	c.(5353-5355)aCa>aGa	p.T1785R	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1785R|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1785	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353000										HNSCC(13;0.011)			108	768					0	0	0.870114	0	0
ABCG1	9619	broad.mit.edu	37	21	43706025	43706025	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:43706025G>T	ENST00000398437.1	+	9	1480	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	ABCG1_ENST00000398449.3_Silent_p.R298R|ABCG1_ENST00000343687.3_Silent_p.R309R|ABCG1_ENST00000347800.2_Silent_p.R295R|ABCG1_ENST00000340588.4_Silent_p.R406R|ABCG1_ENST00000398457.2_Silent_p.R300R|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000361802.2_Silent_p.R298R			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	298	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R298R(2)|p.R300R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTGTACCGGGGAAAAGTCT	0.517000													73	456					1.17954e-47	1.95943e-47	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	114111142	114111142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:114111142T>A	ENST00000297405.5	-	5	1004	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S254C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S214C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S254C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	254	CUB 2.					integral to membrane|plasma membrane		p.S214C(2)|p.S254C(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACTAGGGCTGGATATGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	172					0	0	0.706142	0	0
CASP4	837	broad.mit.edu	37	11	104819384	104819384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:104819384C>A	ENST00000444739.2	-	6	1711	c.801G>T	c.(799-801)tgG>tgT	p.W267C	CASP4_ENST00000393150.3_Missense_Mutation_p.W211C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	267					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.W267C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGTCTCTGACCCACAGTTCCC	0.498000													46	266					5.39261e-20	7.73656e-20	0.870114	1	0
USPL1	10208	broad.mit.edu	37	13	31205085	31205085	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:31205085G>T	ENST00000255304.4	+	4	684	c.342G>T	c.(340-342)aaG>aaT	p.K114N	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	114					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K114N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCAGCTATAAGGATTCACTTC	0.353000													23	134					2.50493e-22	3.76485e-22	0.681144	1	0
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:168106863G>A	ENST00000409195.1	+	9	9050	c.8961G>A	c.(8959-8961)ctG>ctA	p.L2987L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization	cell junction	actin binding	p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343000													21	175					0	0	0.002299	0	0
AFF2	2334	broad.mit.edu	37	X	147744265	147744265	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:147744265G>T	ENST00000370460.2	+	3	1496	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	AFF2_ENST00000370458.1_Missense_Mutation_p.K335N|AFF2_ENST00000342251.3_Missense_Mutation_p.K335N|AFF2_ENST00000370457.5_Missense_Mutation_p.K335N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	339					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.K339N(4)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGCCAAAGTTCACCATCC	0.363000													14	49					2.23348e-06	2.8581e-06	0.004007	1	0
MUC5AC	4586	broad.mit.edu	37	11	1157860	1157860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:1157860C>A	ENST00000356191.2	+	13	918	c.918C>A	c.(916-918)caC>caA	p.H306Q						mucin 5AC, oligomeric mucus/gel-forming									p.H309Q(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCGTCTGCCACACCCTTGCCG	0.672000													11	90					9.31168e-06	1.17417e-05	0.001855	1	0
TRIM29	23650	broad.mit.edu	37	11	120008510	120008510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:120008510C>A	ENST00000341846.5	-	1	651	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	77					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R77L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GATGATGGGTCGCCGCCACTC	0.637000													52	181					4.60868e-44	8.67179e-44	0.003610	1	0
VWA7	80737	broad.mit.edu	37	6	31740879	31740879	+	Silent	SNP	G	G	A	rs146780305	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:31740879G>A	ENST00000375686.3	-	7	1176	c.939C>T	c.(937-939)gcC>gcT	p.A313A	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Silent_p.A313A|VWA7_ENST00000375688.4_Silent_p.A313A	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	313						extracellular region		p.A313A(2)									TCAGGCTGGAGGCTGGGGTGA	0.632000													8	34					0	0	0.004482	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	55					0	0	0.001168	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126277168	126277168	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:126277168C>G	ENST00000526727.1	+	4	578	c.204C>G	c.(202-204)atC>atG	p.I68M	ST3GAL4_ENST00000449406.2_Missense_Mutation_p.I57M|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.I64M|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.I68M|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.I67M|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.I63M|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.I68M|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.I74M|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.I64M|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.I68M			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	68					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ATCAGCCCATCTTCCTGCGGC	0.547000													7	325					0	0	0.004482	0	0
PEG3	5178	broad.mit.edu	37	19	57327996	57327996	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:57327996C>A	ENST00000326441.9	-	10	2177	c.1814G>T	c.(1813-1815)gGg>gTg	p.G605V	PEG3_ENST00000423103.2_Missense_Mutation_p.G605V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G481V|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G479V|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G605V(4)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGTTTCCCCGCGCtcacg	0.453000													13	37					0.00010058	0.000122234	0.001368	1	0
CSDE1	7812	broad.mit.edu	37	1	115267878	115267878	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:115267878T>C	ENST00000438362.2	-	15	2233	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	CSDE1_ENST00000530886.1_Missense_Mutation_p.K443E|CSDE1_ENST00000369530.1_Missense_Mutation_p.K588E|CSDE1_ENST00000358528.4_Missense_Mutation_p.K573E|CSDE1_ENST00000339438.6_Missense_Mutation_p.K542E|CSDE1_ENST00000534699.1_Missense_Mutation_p.K573E|CSDE1_ENST00000261443.5_Missense_Mutation_p.K542E	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	573	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.K573E(2)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GCACTGACTTTGTTGCCTTTG	0.413000													11	198					0	0	0.001368	0	0
C15orf32	145858	broad.mit.edu	37	15	93015490	93015490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:93015490G>T	ENST00000333334.2	+	1	607	c.112G>T	c.(112-114)Gga>Tga	p.G38*	C15orf32_ENST00000556865.1_Nonsense_Mutation_p.G38*	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	38								p.G38*(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TTCCCCAAGAGGAGAAGGAAC	0.542000													22	156					9.22233e-05	0.000112759	0.004656	1	0
MMD	23531	broad.mit.edu	37	17	53491543	53491543	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:53491543T>C	ENST00000262065.3	-	2	373	c.77A>G	c.(76-78)tAt>tGt	p.Y26C		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	26					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	p.Y26C(2)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGCATGTTCATAGCAAGTTGG	0.453000													7	122					0	0	0.003080	0	0
GLI1	2735	broad.mit.edu	37	12	57864243	57864243	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:57864243G>A	ENST00000228682.2	+	12	1811	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	GLI1_ENST00000546141.1_Missense_Mutation_p.G533R|GLI1_ENST00000543426.1_Missense_Mutation_p.G446R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	574					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.G574R(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCAGAGAATGGAGCATCCTC	0.632000													41	120					0	0	0.007835	0	0
MMRN1	22915	broad.mit.edu	37	4	90857222	90857222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:90857222C>G	ENST00000394980.1	+	7	2710	c.2391C>G	c.(2389-2391)aaC>aaG	p.N797K	MMRN1_ENST00000508372.1_Missense_Mutation_p.N539K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.N797K			Q13201	MMRN1_HUMAN	multimerin 1	797					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.N797K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAGATATAACTTTGTTTTGC	0.373000													12	94					0	0	0.000978	0	0
SALL2	6297	broad.mit.edu	37	14	21992890	21992890	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:21992890G>A	ENST00000327430.3	-	2	1266	c.972C>T	c.(970-972)acC>acT	p.T324T	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.T187T|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	324							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T324T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTAGTCCCGTGGTGCTTGGGA	0.627000													19	61					0	0	0.001523	0	0
MYH13	8735	broad.mit.edu	37	17	10204269	10204269	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10204269C>T	ENST00000418404.3	-	40	5979	c.5816G>A	c.(5815-5817)tGa>tAa	p.*1939*	MYH13_ENST00000570743.1_Silent_p.*1939*|MYH13_ENST00000252172.4_Silent_p.*1939*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	0					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.*1939*(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTGAGCCTCATTCTTCCAT	0.438000													13	134					0	0	0.004990	0	0
NPHS2	7827	broad.mit.edu	37	1	179520370	179520370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:179520370G>T	ENST00000367615.4	-	8	1158	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P296T|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	364					excretion	integral to plasma membrane	protein binding	p.P364T(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGGACTTGGGAAGGGGAGG	0.488000													22	139					4.59853e-10	6.74153e-10	0.005443	1	0
FAM129C	199786	broad.mit.edu	37	19	17664237	17664237	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:17664237T>C	ENST00000335393.4	+	16	2097	c.1959T>C	c.(1957-1959)tcT>tcC	p.S653S	FAM129C_ENST00000601861.1_Silent_p.S622S|FAM129C_ENST00000449408.2_Silent_p.S379S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	653								p.S653S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTCTGCTGTCTTGCAGCTGCT	0.527000													24	162					0	0	0.002299	0	0
USH2A	7399	broad.mit.edu	37	1	216062334	216062334	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216062334A>T	ENST00000366943.2	-	41	8043	c.7657T>A	c.(7657-7659)Tgg>Agg	p.W2553R	USH2A_ENST00000307340.3_Missense_Mutation_p.W2553R|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2553	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W2553R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGCTGCCAGGTGACCAAC	0.408000										HNSCC(13;0.011)			25	175					0	0	0.003954	0	0
FAM194A	131831	broad.mit.edu	37	3	150377865	150377865	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:150377865C>G	ENST00000295910.6	-	14	1858	c.1806G>C	c.(1804-1806)aaG>aaC	p.K602N	FAM194A_ENST00000491361.1_Missense_Mutation_p.K456N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	602								p.K602N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGACGGATCTTTATTAAAC	0.423000													60	210					0	0	0.003610	0	0
ANKRD26	22852	broad.mit.edu	37	10	27355419	27355419	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:27355419A>G	ENST00000376087.4	-	11	1431	c.1266T>C	c.(1264-1266)tcT>tcC	p.S422S	ANKRD26_ENST00000436985.2_Silent_p.S471S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	422						centrosome		p.S422S(2)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAAGTACCTCAGAATCCCAAG	0.318000													20	72					0	0	0.001882	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69034445	69034445	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:69034445A>G	ENST00000295381.3	+	5	923	c.504A>G	c.(502-504)gaA>gaG	p.E168E	ARHGAP25_ENST00000409202.3_Silent_p.E169E|ARHGAP25_ENST00000467265.1_Silent_p.E129E|ARHGAP25_ENST00000544262.1_Silent_p.E143E|ARHGAP25_ENST00000409220.1_Silent_p.E162E|ARHGAP25_ENST00000409030.3_Silent_p.E161E|ARHGAP25_ENST00000497079.1_Silent_p.E162E|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	168	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E162E(2)|p.E169E(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGCCTATGAACAGAAATTCG	0.542000													19	68					0	0	0.008871	0	0
C19orf40	91442	broad.mit.edu	37	19	33464996	33464996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:33464996G>C	ENST00000588258.1	+	4	384	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	C19orf40_ENST00000590281.1_Missense_Mutation_p.E92Q|C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	92					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	p.E92Q(2)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGTAGTCGTTGAAAAAACCCG	0.418000								Direct reversal of damage					12	79					0	0	0.001368	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667826	60667826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:60667826C>A	ENST00000400324.4	-	4	651	c.431G>T	c.(430-432)cGg>cTg	p.R144L	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R144L|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R74L|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R133L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R144L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTCCTTTTCCCGCAATGGTGC	0.333000													6	73					8.12818e-05	9.95826e-05	0.001984	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777518	43777518	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:43777518C>T	ENST00000389420.3	-	31	4639	c.4640G>A	c.(4639-4641)tGt>tAt	p.C1547Y		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1547	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.C1547Y(2)|p.R1547K(2)		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)		TTTTCTCTCACATGATGTTGA	0.348000													30	109					0	0	0.001786	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219383918	219383918	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:219383918A>T	ENST00000366928.5	+	4	453	c.406A>T	c.(406-408)Aga>Tga	p.R136*	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.R120*	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	136						cytoplasm	lysophospholipase activity	p.R136*(2)		large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTTAGCATATAGAAATCATCA	0.303000													16	91					0	0	0.003330	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703256	156703256	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:156703256C>T	ENST00000368216.4	+	5	1210	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	RRNAD1_ENST00000476229.1_Missense_Mutation_p.R71C|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R194C	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	194						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GAGAGCCCAGCGCCTGGACCA	0.617000													7	284					0	0	0.003080	0	0
C12orf36	283422	broad.mit.edu	37	12	13529158	13529158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:13529158C>A	ENST00000532841.1	-	2	305	c.182G>T	c.(181-183)aGg>aTg	p.R61M	C12orf36_ENST00000527705.2_Splice_Site_p.S61_splice|C12orf36_ENST00000318426.2_Splice_Site_p.S61_splice|C12orf36_ENST00000539026.1_Splice_Site_p.R61_splice					chromosome 12 open reading frame 36									p.S61I(2)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcccactcacctccacagcct	0.488000													10	184					0.00621372	0.00724534	0.006214	1	0
LRRC15	131578	broad.mit.edu	37	3	194081543	194081543	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:194081543G>A	ENST00000347624.3	-	2	315	c.230C>T	c.(229-231)tCa>tTa	p.S77L	LRRC15_ENST00000428839.1_Missense_Mutation_p.S83L|LRRC15_ENST00000439944.2_Missense_Mutation_p.S83L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	77						integral to membrane		p.S77L(2)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GATGAGGGCTGAGATATTGAG	0.587000													35	108					0	0	0.003755	0	0
ASAP1	50807	broad.mit.edu	37	8	131181264	131181264	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:131181264C>G	ENST00000357668.1	-	9	823	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.E266Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	266					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGTTTTTCAATGTACTGT	0.274000													4	116					0	0	0.000248	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517179	140517179	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:140517179C>G	ENST00000231134.5	+	1	2380	c.2163C>G	c.(2161-2163)gtC>gtG	p.V721V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		721					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCTCGGTCGGTCGCTGCT	0.652000													6	232					0	0	0.001984	0	0
PEX12	5193	broad.mit.edu	37	17	33904575	33904575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:33904575G>T	ENST00000225873.4	-	2	769	c.162C>A	c.(160-162)ttC>ttA	p.F54L		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	54					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.F54L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCCACAAGAAGCCATAGT	0.373000													43	210					9.39024e-22	1.66815e-21	0.002222	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863748	64863748	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:64863748G>A	ENST00000313349.3	-	2	555	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	86					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.F86F(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGAGGGGGTGAACATGGGCC	0.632000													9	74					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179584084	179584084	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:179584084T>C	ENST00000589042.1	-	83	24257	c.24033A>G	c.(24031-24033)tcA>tcG	p.S8011S	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S7694S|TTN_ENST00000342992.6_Silent_p.S6767S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7694	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6767S(2)		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)			AAATCGGGGCTGAGCCAGAGA	0.498000													26	238					0	0	0.006320	0	0
BAI3	577	broad.mit.edu	37	6	69349249	69349249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:69349249G>T	ENST00000370598.1	+	3	1503	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	228					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G228C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGACAGAGGGCTGCCTGAC	0.537000													9	66					1.12685e-05	1.41501e-05	0.004482	1	0
HCST	10870	broad.mit.edu	37	19	36393498	36393498	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:36393498G>T	ENST00000246551.4	+	1	117	c.3G>T	c.(1-3)atG>atT	p.M1I	HCST_ENST00000437550.2_Start_Codon_SNP_p.M1I			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	1					regulation of immune response	integral to membrane|plasma membrane		p.M1I(2)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTCCACCATGATCCATCTGG	0.567000													76	612					2.22156e-40	4.16714e-40	0.003610	1	0
GDF5	8200	broad.mit.edu	37	20	34021748	34021748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:34021748G>T	ENST00000374372.1	-	4	1968	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K	GDF5_ENST00000374369.3_Missense_Mutation_p.Q489K|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	489					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.Q489K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCCTCATACTGCTTATACACC	0.592000													18	115					6.94344e-10	1.00331e-09	0.006122	1	0
OR2T6	254879	broad.mit.edu	37	1	248551725	248551725	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248551725G>T	ENST00000355728.2	+	1	816	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAAAGATAAGGTCTTCTCTG	0.473000													13	130					0.00010058	0.000122234	0.001368	1	0
TMEM47	83604	broad.mit.edu	37	X	34648523	34648523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:34648523C>A	ENST00000275954.3	-	3	711	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	151						integral to membrane		p.W151C(4)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCCATAACCCCAGTTGAACT	0.423000													12	70					3.07112e-06	3.90517e-06	0.000978	1	0
DSC3	1825	broad.mit.edu	37	18	28604459	28604459	+	Splice_Site	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:28604459A>G	ENST00000434452.1	-	6	785	c.630_splice	c.e6-1	p.L211_splice	DSC3_ENST00000360428.4_Splice_Site_p.L211_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	211	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L211L(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAAGCAATCAACTGCAAAATA	0.408000													6	76					0	0	0.001984	0	0
IL9R	3581	broad.mit.edu	37	X	155234092	155234092	+	Silent	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:155234092G>C	ENST00000424344.3	+	6	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L	IL9R_ENST00000369423.2_Intron|IL9R_ENST00000244174.5_Silent_p.L147L|IL9R_ENST00000540897.1_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor	147					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.D148Y(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTTAAGCTGGACCCGCCCT	0.547000													6	88					0	0	0.001984	0	0
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248737350C>G	ENST00000328782.2	-	1	730	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562000													27	257					0	0	0.001786	0	0
RUFY2	55680	broad.mit.edu	37	10	70156631	70156631	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:70156631G>T	ENST00000388768.2	-	4	735	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Missense_Mutation_p.L102M|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.L102M|RUFY2_ENST00000454950.2_Missense_Mutation_p.L44M	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	151	RUN.					nucleus	metal ion binding	p.L137M(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCTCGACCCAGAGGGGTCCTA	0.433000													8	74					5.18039e-06	6.54593e-06	0.003080	1	0
PIK3CA	5290	broad.mit.edu	37	3	178921566	178921566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:178921566G>A	ENST00000263967.3	+	5	1205	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	350					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D350N(4)|p.D350H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAATATTCGAGACATTGATAA	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	153					0	0	0.006122	0	0
GALNT7	51809	broad.mit.edu	37	4	174219404	174219404	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:174219404C>T	ENST00000265000.4	+	6	1187	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	368					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T368T(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TGCCTCTGACCCCTCAAGAGA	0.443000													9	48					0	0	0.004482	0	0
CSNK1D	1453	broad.mit.edu	37	17	80223565	80223565	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:80223565C>T	ENST00000314028.6	-	2	533	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CSNK1D_ENST00000392334.2_Missense_Mutation_p.G62R|CSNK1D_ENST00000398519.5_Missense_Mutation_p.G62R	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	62	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G62R(6)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GACCTACCTCCTCCCTGCATC	0.458000													14	182					0	0	0.002450	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213681	1213681	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:1213681C>A	ENST00000304460.10	+	5	823	c.767C>A	c.(766-768)aCg>aAg	p.T256K		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	256					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T256K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCTCTTCACGCCCAACGTA	0.652000													12	39					3.27435e-08	4.46435e-08	0.002450	1	0
PLA2G6	8398	broad.mit.edu	37	22	38508177	38508177	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:38508177G>A	ENST00000332509.3	-	17	2595	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	PLA2G6_ENST00000335539.3_Silent_p.L750L|PLA2G6_ENST00000402064.1_Silent_p.L750L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	804					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		p.L804L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTCAGGGTGAGAGCAGCAGCT	0.637000													3	11					0	0	0.004672	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090685	238090685	+	RNA	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:238090685G>C	ENST00000450451.1	+	0	2191					NR_027247.2																						GGCTGGCAGGGACCTGACAGG	0.622000													4	22					0	0	0.000602	0	0
PKHD1	5314	broad.mit.edu	37	6	51768419	51768419	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:51768419G>C	ENST00000371117.3	-	43	7247	c.6972C>G	c.(6970-6972)atC>atG	p.I2324M	PKHD1_ENST00000340994.4_Missense_Mutation_p.I2324M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2324					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I2324M(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGACTGCAGATATAGATGC	0.453000													29	176					0	0	0.007291	0	0
GPC6	10082	broad.mit.edu	37	13	94482465	94482465	+	Silent	SNP	G	G	T	rs149069159		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:94482465G>T	ENST00000377047.4	+	3	993	c.378G>T	c.(376-378)cgG>cgT	p.R126R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	126						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R126R(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTTTGTACGGACCTATGGCA	0.398000													11	91					0.000673444	0.000802288	0.008291	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111896616	111896616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:111896616G>T	ENST00000375741.2	+	9	1238	c.988G>T	c.(988-990)Gta>Tta	p.V330L	ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.V152L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.V152L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.V309L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.V280L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.V152L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.V74L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.V227L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.V152L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.V237L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	330	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.V309L(2)|p.V152L(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCAAATGCTCGTACAGTCTTT	0.313000													9	68					0.00448238	0.00524682	0.004482	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952637	119952637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:119952637C>T	ENST00000307142.4	+	4	2903	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P903S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P903S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	903						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.P903S(4)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTCAGTCTCCCACTCCATC	0.567000													10	118					0	0	0.006214	0	0
RALYL	138046	broad.mit.edu	37	8	85774568	85774568	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:85774568C>G	ENST00000521268.1	+	6	1556	c.451C>G	c.(451-453)Cgt>Ggt	p.R151G	RALYL_ENST00000521695.1_Missense_Mutation_p.R151G|RALYL_ENST00000523850.1_Missense_Mutation_p.R78G|RALYL_ENST00000522455.1_Missense_Mutation_p.R151G|RALYL_ENST00000517638.1_Missense_Mutation_p.R164G|RALYL_ENST00000521376.1_Missense_Mutation_p.R62G|RALYL_ENST00000518566.1_Missense_Mutation_p.R140G	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							identical protein binding|nucleotide binding|RNA binding	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502000													11	36					0	0	0.000978	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253949	39253949	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:39253949T>A	ENST00000333822.4	-	1	444	c.388A>T	c.(388-390)Agc>Tgc	p.S130C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	130	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgctgcagctgggg	0.677000													5	6					0	0	0.001984	0	0
C1orf105	92346	broad.mit.edu	37	1	172437600	172437600	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:172437600T>A	ENST00000367727.4	+	7	616	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Missense_Mutation_p.Y130N	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	140								p.Y140N(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AAGCATTCACTACAGACTGCC	0.443000													41	383					0	0	0.002222	0	0
C1orf105	92346	broad.mit.edu	37	1	172437623	172437623	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:172437623C>A	ENST00000367727.4	+	7	639	c.441C>A	c.(439-441)ccC>ccA	p.P147P	C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.P137P	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	147								p.P147P(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TTCTGGGCCCCAGGACAGCTG	0.443000													52	437					2.31418e-15	3.84001e-15	0.003610	1	0
SLAIN2	57606	broad.mit.edu	37	4	48381849	48381849	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:48381849C>G	ENST00000264313.6	+	4	1264	c.846C>G	c.(844-846)gcC>gcG	p.A282A	SLAIN2_ENST00000512093.1_Silent_p.A89A	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	282						centrosome		p.A282A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGATTCTAGCCCGGATGCAGG	0.308000													24	181					0	0	0.005443	0	0
MGAM	8972	broad.mit.edu	37	7	141708386	141708386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:141708386G>A	ENST00000475668.2	+	3	262	c.208G>A	c.(208-210)Gct>Act	p.A70T	MGAM_ENST00000549489.2_Missense_Mutation_p.A70T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	70	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.A70T(8)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCACACATGCTAGGACAAC	0.498000													7	51					0	0	0.003080	0	0
ZNF479	90827	broad.mit.edu	37	7	57188289	57188289	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:57188289A>T	ENST00000331162.4	-	5	1103	c.833T>A	c.(832-834)tTt>tAt	p.F278Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F278Y(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGAGCGCCTAAAGGCTTGGCC	0.458000													15	76					0	0	0.004007	0	0
NFATC2	4773	broad.mit.edu	37	20	50139740	50139740	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:50139740G>A	ENST00000371564.3	-	2	1259	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	NFATC2_ENST00000396009.3_Missense_Mutation_p.P347L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P327L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	347					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCCACGGCCGGGTAGATGTG	0.677000													4	202					0	0	0.000248	0	0
REST	5978	broad.mit.edu	37	4	57796165	57796165	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:57796165G>C	ENST00000309042.7	+	4	1455	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	381					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.E381Q(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAACATGTAGAGCTACATGT	0.428000													47	256					0	0	0.003610	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952305	95952305	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:95952305G>C	ENST00000342697.4	-	3	663	c.256C>G	c.(256-258)Cag>Gag	p.Q86E	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.Q86E|TP53INP1_ENST00000378776.4_Missense_Mutation_p.Q86E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	86					apoptosis	PML body		p.Q86E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GACTCAAACTGGAGAAAGCAG	0.473000													9	89					0	0	0.006214	0	0
GRM7	2917	broad.mit.edu	37	3	7348280	7348280	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:7348280A>G	ENST00000486284.1	+	4	1248	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	GRM7_ENST00000402647.2_Missense_Mutation_p.Q325R|GRM7_ENST00000357716.4_Missense_Mutation_p.Q325R|GRM7_ENST00000389336.4_Missense_Mutation_p.Q325R|GRM7_ENST00000403881.1_Missense_Mutation_p.Q325R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	325					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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.Q325R(2)		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)	CCACTGCACCAGCATGAAGAT	0.517000													28	143					0	0	0.005443	0	0
OR4M2	390538	broad.mit.edu	37	15	22368980	22368980	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:22368980C>A	ENST00000332663.2	+	1	503	c.405C>A	c.(403-405)atC>atA	p.I135I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCTACCATCATGAATCAAC	0.502000													40	645					1.62957e-23	2.94689e-23	0.008740	1	0
CDH6	1004	broad.mit.edu	37	5	31322949	31322949	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:31322949T>A	ENST00000265071.2	+	12	2172	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	636					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L636Q(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTGCAGCTCTGAGGCGGCAG	0.448000													52	163					0	0	0.003610	0	0
OR10X1	128367	broad.mit.edu	37	1	158548787	158548787	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158548787G>A	ENST00000368150.1	-	1	902	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408000													71	255					0	0	0.003610	0	0
MAT1A	4143	broad.mit.edu	37	10	82043734	82043734	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:82043734A>T	ENST00000372213.3	-	3	490	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	77					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.V77E(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGGTAGTCCACCATGGCCAT	0.592000													11	99					0	0	0.000978	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862065	128862065	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:128862065G>C	ENST00000274487.4	+	4	1129	c.984G>C	c.(982-984)gaG>gaC	p.E328D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	328	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E328D(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACAACATAGAGACTGTAGTGG	0.393000													19	115					0	0	0.008871	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179864	90179864	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:90179864C>T	ENST00000370454.4	+	3	1990	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	579						endoplasmic reticulum membrane|integral to membrane		p.L579L(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGCACCAAGCTGGTGATGCT	0.463000													11	105					0	0	0.008291	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005823	118005823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:118005823C>T	ENST00000310754.4	-	1	913	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	243	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.D243N(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TACTTTTCATCACTAAAGTAA	0.388000													16	99					0	0	0.006122	0	0
YIPF1	54432	broad.mit.edu	37	1	54348884	54348884	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:54348884G>C	ENST00000371399.1	-	0	132				YIPF1_ENST00000469457.1_Intron|YIPF1_ENST00000072644.1_Missense_Mutation_p.P33A|YIPF1_ENST00000539954.1_Missense_Mutation_p.P58A			Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral to membrane|transport vesicle		p.P33A(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTTCACCAGGATCCTCAATG	0.473000													10	173					0	0	0.006214	0	0
FLVCR2	55640	broad.mit.edu	37	14	76108196	76108196	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:76108196G>C	ENST00000238667.4	+	9	1820	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	FLVCR2_ENST00000555027.1_Missense_Mutation_p.K203N|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000539311.1_Missense_Mutation_p.K283N|FLVCR2_ENST00000553587.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	488					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.K488N(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CATTCATTAAGGCAGATCTCC	0.433000													9	123					0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	30936620	30936620	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:30936620C>A	ENST00000355537.3	+	2	2298	c.2151C>A	c.(2149-2151)ccC>ccA	p.P717P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P717P(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCGCACCCCTCCTCGCCAT	0.682000													10	44					6.40141e-05	7.90686e-05	0.000978	1	0
FHOD3	80206	broad.mit.edu	37	18	34324149	34324149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:34324149C>A	ENST00000257209.4	+	20	3631	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.S1345*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.S366*|FHOD3_ENST00000592128.1_Nonsense_Mutation_p.S149*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.S1153*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.S1132*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1153	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S1170*(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCACCAGGTCAGCCAAGGTA	0.562000													14	128					1.49906e-05	1.8746e-05	0.002450	1	0
ATP11C	286410	broad.mit.edu	37	X	138825775	138825775	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:138825775T>C	ENST00000370557.1	-	26	3991	c.2964A>G	c.(2962-2964)ggA>ggG	p.G988G	ATP11C_ENST00000327569.3_Silent_p.G994G|ATP11C_ENST00000370543.1_Silent_p.G994G|ATP11C_ENST00000361648.2_Silent_p.G994G|ATP11C_ENST00000359686.2_Silent_p.G994G|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	994					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G994G(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGTCCAGTTTCCGTATACCT	0.264000													8	12					0	0	0.006214	0	0
SCD5	79966	broad.mit.edu	37	4	83626448	83626448	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:83626448G>A	ENST00000319540.4	-	2	670	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCD5_ENST00000282709.4_Silent_p.S117S|SCD5_ENST00000273908.4_Silent_p.S117S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	117					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.S117S(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGAAAGCCATGGAGTTGGCGA	0.607000													9	102					0	0	0.006214	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303752	46303752	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:46303752A>G	ENST00000221538.3	-	5	2010	c.1868T>C	c.(1867-1869)gTt>gCt	p.V623A	RSPH6A_ENST00000597055.1_Missense_Mutation_p.V623A|RSPH6A_ENST00000600188.1_Missense_Mutation_p.V359A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	623	Glu-rich.					intracellular		p.V623A(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGAGCGCACAACGGCCACTGA	0.637000													8	54					0	0	0.008291	0	0
LRRC6	23639	broad.mit.edu	37	8	133637568	133637568	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:133637568C>A	ENST00000519595.1	-	6	884	c.786G>T	c.(784-786)ttG>ttT	p.L262F	LRRC6_ENST00000518642.1_Missense_Mutation_p.L262F|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.L262F			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	262						cytoplasm		p.L262F(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAAGAGTTTCCAATCTTGATT	0.383000													11	69					2.31682e-05	2.87934e-05	0.003163	1	0
TFDP3	51270	broad.mit.edu	37	X	132351141	132351141	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:132351141G>T	ENST00000310125.4	-	1	1235	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P383T(2)|p.P323T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCGACTGCTGGGGTCTCCACC	0.562000													28	89					7.41945e-09	1.03257e-08	0.005443	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													7	107					0	0	0.001984	0	0
PASD1	139135	broad.mit.edu	37	X	150841089	150841089	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:150841089C>G	ENST00000370357.4	+	14	2117	c.1872C>G	c.(1870-1872)ttC>ttG	p.F624L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	624						nucleus	signal transducer activity	p.F624L(4)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCTTCTATCAAGATG	0.473000													31	72					0	0	0.002836	0	0
DNAH9	1770	broad.mit.edu	37	17	11520764	11520764	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:11520764T>C	ENST00000262442.3	+	5	1009	c.941T>C	c.(940-942)aTa>aCa	p.I314T	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.I314T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	314	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I314T(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCACCTGATACCGCTCCAG	0.587000													14	71					0	0	0.003163	0	0
NTNG1	22854	broad.mit.edu	37	1	107973450	107973450	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:107973450A>C	ENST00000370068.1	+	6	2012	c.1166A>C	c.(1165-1167)cAc>cCc	p.H389P	NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370065.1_Missense_Mutation_p.H389P|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.H389P|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.H389P			Q9Y2I2	NTNG1_HUMAN	netrin G1	389	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.H389P(2)|p.H389L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGTAAACACAACACTAGA	0.453000													6	57					0	0	0.001168	0	0
CCDC57	284001	broad.mit.edu	37	17	80151915	80151915	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:80151915C>A	ENST00000389641.4	-	5	755	c.719G>T	c.(718-720)aGg>aTg	p.R240M	CCDC57_ENST00000392343.3_Missense_Mutation_p.R240M|CCDC57_ENST00000392347.1_Missense_Mutation_p.R240M			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	240								p.R240M(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGGAGCTTCCTCTCCAGCTC	0.652000													24	76					1.10923e-09	1.58013e-09	0.002780	1	0
DNAI2	64446	broad.mit.edu	37	17	72297289	72297289	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:72297289G>A	ENST00000579490.1	+	7	1275	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	DNAI2_ENST00000582036.1_Silent_p.L323L|DNAI2_ENST00000307504.5_Silent_p.L180L|DNAI2_ENST00000311014.6_Silent_p.L323L|DNAI2_ENST00000446837.2_Silent_p.L323L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	323					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.L323L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCATCTCCCTGGAGTTCGAAT	0.527000									Kartagener syndrome				89	268					0	0	0.003610	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111929984	111929984	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:111929984G>C	ENST00000375741.2	+	14	1783	c.1533G>C	c.(1531-1533)ttG>ttC	p.L511F	ARHGEF7_ENST00000544132.1_Missense_Mutation_p.L167F|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.L333F|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.L333F|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.L490F|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.L461F|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.L333F|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.L255F|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.L408F|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.L333F|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.L418F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	511	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L333F(2)|p.L490F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCTAATGTTGTCTGCCAGTC	0.294000													19	90					0	0	0.007413	0	0
MUC5B	727897	broad.mit.edu	37	11	1271072	1271072	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:1271072C>A	ENST00000447027.1	+	31	13029	c.12971C>A	c.(12970-12972)aCc>aAc	p.T4324N	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4321N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4321	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4321N(2)|p.T4276N(2)		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)		TCCACAGCTACCAGCGTTACA	0.607000													25	177					9.93527e-08	1.3365e-07	0.002836	1	0
FBN2	2201	broad.mit.edu	37	5	127727777	127727777	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:127727777T>A	ENST00000508053.1	-	17	2511	c.1537A>T	c.(1537-1539)Act>Tct	p.T513S	FBN2_ENST00000262464.4_Missense_Mutation_p.T513S|FBN2_ENST00000508989.1_Missense_Mutation_p.T480S			P35556	FBN2_HUMAN	fibrillin 2	513	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T513S(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTGAGACAGTTGGTATACAG	0.348000													38	86					0	0	0.006999	0	0
BAZ2B	29994	broad.mit.edu	37	2	160239224	160239224	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:160239224G>A	ENST00000392783.2	-	25	4346	c.3851C>T	c.(3850-3852)cCc>cTc	p.P1284L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1248L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1250L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1184L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.P1284L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCTGGAGTGGGTGTGCCCAA	0.468000													10	67					0	0	0.006214	0	0
ITGAX	3687	broad.mit.edu	37	16	31391186	31391186	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31391186G>T	ENST00000268296.4	+	25	3097		c.e25+1		ITGAX_ENST00000562522.1_Splice_Site	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCACCCCCAGGTACCCAAGGA	0.587000													10	55					7.48243e-07	9.78222e-07	0.006214	1	0
ANGEL1	23357	broad.mit.edu	37	14	77273815	77273815	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:77273815G>A	ENST00000251089.2	-	4	1019	c.907C>T	c.(907-909)Cat>Tat	p.H303Y		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	303								p.H303Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCAGTAATGATCTTCCTGG	0.522000													22	46					0	0	0.003330	0	0
CCDC178	374864	broad.mit.edu	37	18	30791950	30791950	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:30791950C>G	ENST00000383096.3	-	20	2330	c.2148G>C	c.(2146-2148)gaG>gaC	p.E716D	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.E716D|CCDC178_ENST00000406524.2_Missense_Mutation_p.E716D|CCDC178_ENST00000583930.1_Missense_Mutation_p.E716D|CCDC178_ENST00000402325.1_Missense_Mutation_p.E716D|CCDC178_ENST00000300227.8_Missense_Mutation_p.E678D|CCDC178_ENST00000579947.1_Missense_Mutation_p.E716D					coiled-coil domain containing 178									p.E716D(2)|p.E678D(2)									AGTCTTTTTTCTCTTGCATAT	0.343000													13	77					0	0	0.001855	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554394	140554394	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:140554394G>C	ENST00000231137.3	+	1	2152	c.1978G>C	c.(1978-1980)Gtg>Ctg	p.V660L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V660L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.711000													18	172					0	0	0.001786	0	0
ATR	545	broad.mit.edu	37	3	142188251	142188251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:142188251C>G	ENST00000350721.4	-	38	6601	c.6480G>C	c.(6478-6480)ttG>ttC	p.L2160F	ATR_ENST00000383101.3_Missense_Mutation_p.L2096F|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2160	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L2160F(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTATTTCCATCAAGACAACAA	0.348000								Other conserved DNA damage response genes					12	141					0	0	0.001368	0	0
PTPRD	5789	broad.mit.edu	37	9	8465591	8465591	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:8465591C>A	ENST00000381196.4	-	29	4132	c.3589G>T	c.(3589-3591)Gat>Tat	p.D1197Y	PTPRD_ENST00000486161.1_Missense_Mutation_p.D786Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1197Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.D786Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.D783Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.D776Y|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1197Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1184Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.D783Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1175Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1197					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1197Y(4)|p.D668Y(2)|p.D786Y(2)		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)		GGAAGGACATCAAAGTGAGCG	0.423000										TSP Lung(15;0.13)			34	134					9.65021e-13	1.49839e-12	0.002096	1	0
OR4C3	256144	broad.mit.edu	37	11	48347153	48347153	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:48347153G>A	ENST00000319856.4	+	1	682	c.661G>A	c.(661-663)Ggt>Agt	p.G221S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G221S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTATGTCATTGGTCTGCTGGT	0.507000													20	95					0	0	0.007413	0	0
KNDC1	85442	broad.mit.edu	37	10	135024994	135024994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:135024994G>T	ENST00000304613.3	+	22	3998	c.3977G>T	c.(3976-3978)tGg>tTg	p.W1326L	KNDC1_ENST00000368572.2_Missense_Mutation_p.W1328L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1326	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.W1326L(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGCAGGCCTGGGTGGAGGAC	0.647000													24	104					6.32553e-13	9.8724e-13	0.004656	1	0
IFI16	3428	broad.mit.edu	37	1	158988299	158988299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158988299C>A	ENST00000295809.7	+	5	1085	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	IFI16_ENST00000359709.3_Missense_Mutation_p.S221Y|IFI16_ENST00000430894.2_Missense_Mutation_p.S225Y|IFI16_ENST00000368131.4_Missense_Mutation_p.S277Y|IFI16_ENST00000368132.3_Missense_Mutation_p.S277Y|IFI16_ENST00000340979.6_Missense_Mutation_p.S277Y|IFI16_ENST00000448393.2_Missense_Mutation_p.S277Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	277	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.S277Y(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AATGAAGAATCTACTGTATCT	0.343000													16	99					6.94344e-10	1.00331e-09	0.006122	1	0
SYDE2	84144	broad.mit.edu	37	1	85648858	85648858	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:85648858A>G	ENST00000341460.5	-	3	1516	c.1467T>C	c.(1465-1467)aaT>aaC	p.N489N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	489					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.N489N(2)|p.N411N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCAGTACTATTTGTAGCAG	0.318000													13	119					0	0	0.001368	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543774	54543774	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:54543774C>G	ENST00000566473.2	+	14	1624	c.1624C>G	c.(1624-1626)Cat>Gat	p.H542D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.H542D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	542								p.H542D(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAAAGATCGACATGGAAACAT	0.403000													17	170					0	0	0.006122	0	0
MACROD2	140733	broad.mit.edu	37	20	14066278	14066278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:14066278C>T	ENST00000217246.4	+	3	570	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.Q59*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	59	Macro.							p.Q59*(2)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAAATACTCAGGAAACATC	0.318000													8	30					0	0	0.003080	0	0
CELSR2	1952	broad.mit.edu	37	1	109812142	109812142	+	Silent	SNP	G	G	A	rs150014940		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:109812142G>A	ENST00000271332.3	+	21	6970	c.6909G>A	c.(6907-6909)acG>acA	p.T2303T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2303					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.T2303T(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCCGTCACGGTGCAGTTCC	0.607000													24	105					0	0	0.002299	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31384649G>T	ENST00000268296.4	+	20	2567	c.2446G>T	c.(2446-2448)Gga>Tga	p.G816*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.G816*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACTCCTACGGAACCACCAT	0.607000													31	178					2.2171e-23	3.9974e-23	0.001786	1	0
NAA16	79612	broad.mit.edu	37	13	41892955	41892955	+	Missense_Mutation	SNP	G	G	C	rs143056243	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:41892955G>C	ENST00000379406.3	+	3	477	c.153G>C	c.(151-153)atG>atC	p.M51I	NAA16_ENST00000403412.3_Missense_Mutation_p.M51I|NAA16_ENST00000379367.3_Missense_Mutation_p.M51I	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	51					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.M51I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTTTGGCTATGAAAGGATTAA	0.294000													9	67					0	0	0.004482	0	0
CCL14	6358	broad.mit.edu	37	17	34310883	34310883	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:34310883C>A	ENST00000480944.2	-	2	2708	c.302G>T	c.(301-303)aGt>aTt	p.S101I	CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000435911.2_Missense_Mutation_p.S95I|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000394509.4_Missense_Mutation_p.S79I|CCL14_ENST00000536149.1_Missense_Mutation_p.S95I			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	79					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.S79I(2)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTTGTCACTGGGGTTGGT	0.547000													20	103					9.86323e-18	1.69244e-17	0.003954	1	0
COL4A6	1288	broad.mit.edu	37	X	107447623	107447623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:107447623C>G	ENST00000394872.2	-	13	932	c.701G>C	c.(700-702)gGc>gCc	p.G234A	COL4A6_ENST00000538570.1_Missense_Mutation_p.G236A|COL4A6_ENST00000334504.7_Missense_Mutation_p.G236A|COL4A6_ENST00000372216.4_Missense_Mutation_p.G237A|COL4A6_ENST00000545689.1_Missense_Mutation_p.G236A			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	237	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G236A(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTGCTGGGCCAGGGAGGCC	0.478000									Alport syndrome with Diffuse Leiomyomatosis				8	45					0	0	0.004482	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319215	154319215	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:154319215C>T	ENST00000368489.3	+	26	3243	c.3243C>T	c.(3241-3243)ccC>ccT	p.P1081P		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1067					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1081P(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACATGTTTCCCAACCAGTTCC	0.517000													60	245					0	0	0.003610	0	0
TFDP3	51270	broad.mit.edu	37	X	132351139	132351139	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:132351139T>C	ENST00000310125.4	-	1	1237	c.1149A>G	c.(1147-1149)ccA>ccG	p.P383P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	383						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P323P(2)|p.P383P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCGACTGCTGGGGTCTCCA	0.562000													26	88					0	0	0.004656	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479746	12479746	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:12479746C>G	ENST00000409402.4	-	10	1623	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Missense_Mutation_p.K279N|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K318N|SPIRE1_ENST00000410092.3_Missense_Mutation_p.K438N|SPIRE1_ENST00000309836.5_Missense_Mutation_p.K241N	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	452						cytoskeleton|perinuclear region of cytoplasm	actin binding	p.K279N(2)|p.K452N(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTCTGAGGAGCTTCTTCCGCT	0.517000													13	73					0	0	0.002450	0	0
PAX2	5076	broad.mit.edu	37	10	102584414	102584414	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:102584414T>A	ENST00000370296.2	+	9	1548	c.998T>A	c.(997-999)aTg>aAg	p.M333K	PAX2_ENST00000355243.3_Missense_Mutation_p.M310K|PAX2_ENST00000556085.1_Missense_Mutation_p.M309K|PAX2_ENST00000428433.1_Missense_Mutation_p.M333K|PAX2_ENST00000361791.3_Missense_Mutation_p.M310K			Q02962	PAX2_HUMAN	paired box 2	333					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.M333K(2)|p.M310K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTCGTGACATGGCGAGCACC	0.612000													33	196					0	0	0.003271	0	0
AAGAB	79719	broad.mit.edu	37	15	67500916	67500916	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:67500916C>G	ENST00000261880.5	-	7	803	c.699G>C	c.(697-699)caG>caC	p.Q233H	AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000542650.1_Missense_Mutation_p.Q124H|AAGAB_ENST00000561452.1_Missense_Mutation_p.Q124H	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	233					protein transport	cytoplasm		p.Q233H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGCTATCAACCTGGGCATCTG	0.473000													4	58					0	0	0.000602	0	0
SYPL2	284612	broad.mit.edu	37	1	110019410	110019410	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:110019410C>A	ENST00000369872.3	+	4	483	c.267C>A	c.(265-267)atC>atA	p.I89I	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.I89I	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	89	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.I89I(2)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGCACCGGATCCAATATGAGA	0.592000													11	46					0.000673444	0.000802288	0.008291	1	0
STARD10	10809	broad.mit.edu	37	11	72492187	72492187	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:72492187G>A	ENST00000334805.6	-	2	959	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	STARD10_ENST00000543304.1_Missense_Mutation_p.R14W|STARD10_ENST00000545082.1_Missense_Mutation_p.R14W|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538536.1_Missense_Mutation_p.R14W	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	14	START.							p.R14W(2)		endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AGGACCGGCCGAGGCCCTTGG	0.667000													14	100					0	0	0.002450	0	0
DHTKD1	55526	broad.mit.edu	37	10	12136268	12136268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:12136268C>G	ENST00000263035.4	+	7	1418	c.1356C>G	c.(1354-1356)atC>atG	p.I452M	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	452					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I452M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACAAAATCATCAGGTACAATT	0.408000													9	88					0	0	0.004482	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	155					0	0	0.000602	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121608168	121608168	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:121608168T>C	ENST00000393386.2	+	3	699	c.288T>C	c.(286-288)caT>caC	p.H96H	PTPRZ1_ENST00000449182.1_Silent_p.H96H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	96	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.H96H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATTCATTCATAACACTGGGA	0.303000													19	129					0	0	0.001882	0	0
SEMA3C	10512	broad.mit.edu	37	7	80380631	80380631	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:80380631C>G	ENST00000265361.3	-	16	2226	c.1665G>C	c.(1663-1665)gtG>gtC	p.V555V	SEMA3C_ENST00000544525.1_Silent_p.V573V|SEMA3C_ENST00000419255.2_Silent_p.V555V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	555					immune response|response to drug	membrane	receptor activity	p.V555V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCATGTCTCACATCTTGTC	0.393000													3	84					0	0	0.000248	0	0
GFI1	2672	broad.mit.edu	37	1	92948493	92948493	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:92948493C>T	ENST00000370332.1	-	3	544	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	GFI1_ENST00000294702.5_Missense_Mutation_p.E76K|GFI1_ENST00000427103.1_Missense_Mutation_p.E76K	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	76				DSCEG -> RQLRS (in Ref. 1; AAB37272).	negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E76K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		ACGCTGCCTTCGCAGCTGTCT	0.662000													17	76					0	0	0.004007	0	0
DOCK2	1794	broad.mit.edu	37	5	169506137	169506137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:169506137C>A	ENST00000256935.8	+	49	5233	c.5153C>A	c.(5152-5154)tCg>tAg	p.S1718*	DOCK2_ENST00000540750.1_Nonsense_Mutation_p.S779*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.S1210*|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1718					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S1718*(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCAGAGTCGGACCTGAAG	0.567000													16	51					6.72482e-11	1.00539e-10	0.003163	1	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													5	161					0	0	0.001168	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373000													9	73					0	0	0.006214	0	0
PDSS2	57107	broad.mit.edu	37	6	107531724	107531724	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:107531724C>G	ENST00000369037.4	-	6	1204	c.927G>C	c.(925-927)atG>atC	p.M309I	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	309					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.M309I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GATTAAAAGTCATGGAGTCAC	0.328000													16	96					0	0	0.004007	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667813	106667813	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:106667813G>T	ENST00000390606.2	-	0	180																											GGCTGCACAGGAGAGTCTCAG	0.572000													21	182					5.26018e-13	8.25233e-13	0.001882	1	0
SLC7A7	9056	broad.mit.edu	37	14	23242826	23242826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:23242826G>T	ENST00000397532.3	-	10	2054	c.1529C>A	c.(1528-1530)tCt>tAt	p.S510Y	SLC7A7_ENST00000397528.4_Missense_Mutation_p.S510Y|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S510Y|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S510Y|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S510Y|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S244Y			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	510					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.S510Y(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TGTTTAGTTAGATTTGGGATC	0.488000													20	82					8.10497e-08	1.09272e-07	0.001523	1	0
ITPR1	3708	broad.mit.edu	37	3	4748018	4748018	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:4748018A>C	ENST00000354582.6	+	37	5175	c.4825A>C	c.(4825-4827)Atc>Ctc	p.I1609L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.I1594L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I1600L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I1585L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I1600L|ITPR1_ENST00000302640.8_Missense_Mutation_p.I1594L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1609					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.I1585L(2)|p.I1600L(2)|p.I1594L(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTACCGGAATATCATTGAGAG	0.542000													7	29					0	0	0.003080	0	0
SYN3	8224	broad.mit.edu	37	22	32934062	32934062	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:32934062T>C	ENST00000358763.2	-	9	1194	c.952A>G	c.(952-954)Aca>Gca	p.T318A	SYN3_ENST00000332840.5_Missense_Mutation_p.T318A	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	318	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T318A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCAGAGCCTGTGTTGGCCTTC	0.527000													17	182					0	0	0.008871	0	0
GFRA3	2676	broad.mit.edu	37	5	137593429	137593429	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:137593429C>A	ENST00000274721.3	-	4	930	c.684G>T	c.(682-684)ggG>ggT	p.G228G	GFRA3_ENST00000378362.3_Silent_p.G197G	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	228					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	p.G228G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGCGCTCCCCGCAGCCCC	0.706000													10	35					9.70103e-10	1.3951e-09	0.008291	1	0
KRBA1	84626	broad.mit.edu	37	7	149419947	149419947	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:149419947G>T	ENST00000255992.10	+	7	1071	c.672G>T	c.(670-672)cgG>cgT	p.R224R	KRBA1_ENST00000485033.2_Silent_p.R224R|KRBA1_ENST00000319551.8_Silent_p.R224R|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	224								p.R224R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCCCCGGCACCCCGAGA	0.637000													22	100					9.95505e-16	1.67024e-15	0.002299	1	0
MMP16	4325	broad.mit.edu	37	8	89053922	89053922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:89053922C>A	ENST00000286614.6	-	10	1872	c.1591G>T	c.(1591-1593)Ggc>Tgc	p.G531C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	531	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G531C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATCACAGCCCATAAAATCC	0.428000													33	129					2.68265e-12	4.10208e-12	0.002836	1	0
CNGA4	1262	broad.mit.edu	37	11	6262724	6262724	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:6262724T>A	ENST00000379936.2	+	5	1096	c.981T>A	c.(979-981)ccT>ccA	p.P327P	CNGA4_ENST00000533426.1_Silent_p.P96P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	327					response to stimulus|sensory perception of smell		cAMP binding	p.P327P(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTTGCCTGAGCGGCTGC	0.562000													12	126					0	0	0.007413	0	0
AKAP1	8165	broad.mit.edu	37	17	55184111	55184111	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:55184111C>T	ENST00000337714.3	+	2	1519	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	AKAP1_ENST00000572557.1_Missense_Mutation_p.S429L|AKAP1_ENST00000539273.1_Missense_Mutation_p.S429L|AKAP1_ENST00000571629.1_Missense_Mutation_p.S429L|AKAP1_ENST00000314126.3_Missense_Mutation_p.S429L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	429					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.S429L(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCAGAGGGCTCACCACCACCA	0.622000													21	140					0	0	0.008871	0	0
USP32	84669	broad.mit.edu	37	17	58256678	58256678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:58256678C>A	ENST00000300896.4	-	34	4947	c.4753G>T	c.(4753-4755)Gac>Tac	p.D1585Y	USP32_ENST00000592339.1_Missense_Mutation_p.D1255Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1585					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D1585Y(2)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGCTTGTGTCTGCCATCTTT	0.448000													48	144					9.58827e-17	1.63136e-16	0.003610	1	0
COTL1	23406	broad.mit.edu	37	16	84623799	84623799	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:84623799G>A	ENST00000262428.4	-	3	392	c.230C>T	c.(229-231)gCc>gTc	p.A77V	COTL1_ENST00000564057.1_Missense_Mutation_p.A8V	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	77	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CGTGATGAGGGCAAACTTGGA	0.577000													4	153					0	0	0.000602	0	0
MAG	4099	broad.mit.edu	37	19	35790577	35790577	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:35790577G>A	ENST00000361922.4	+	5	686	c.536G>A	c.(535-537)gGg>gAg	p.G179E	MAG_ENST00000392213.3_Missense_Mutation_p.G179E|MAG_ENST00000537831.2_Missense_Mutation_p.G154E|MAG_ENST00000597035.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	179	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.G179E(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCACGAGGGGCTGGGGGAG	0.716000													3	20					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9049935	9049935	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:9049935C>G	ENST00000397910.4	-	5	31899	c.31696G>C	c.(31696-31698)Gag>Cag	p.E10566Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10568	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10566Q(2)|p.E6199Q(2)		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						GCTGTGGTCTCTGATTCTCTA	0.488000													34	189					0	0	0.002445	0	0
MGAT4A	11320	broad.mit.edu	37	2	99261914	99261914	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:99261914T>C	ENST00000393487.1	-	9	1179	c.866A>G	c.(865-867)gAg>gGg	p.E289G	MGAT4A_ENST00000409391.1_Missense_Mutation_p.E289G|MGAT4A_ENST00000264968.2_Missense_Mutation_p.E289G|MGAT4A_ENST00000414521.2_Missense_Mutation_p.E161G	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	289					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.E289G(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTGGGAAAACTCTAGAATCAT	0.323000													9	143					0	0	0.006214	0	0
COL4A6	1288	broad.mit.edu	37	X	107418937	107418937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:107418937C>A	ENST00000394872.2	-	29	3011	c.2780G>T	c.(2779-2781)gGa>gTa	p.G927V	COL4A6_ENST00000538570.1_Missense_Mutation_p.G926V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G926V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G927V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G926V			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	927	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G926V(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCAGTTGATCCTGGAATTCC	0.468000									Alport syndrome with Diffuse Leiomyomatosis				17	53					3.52763e-06	4.46685e-06	0.004990	1	0
MMP20	9313	broad.mit.edu	37	11	102464323	102464323	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:102464323G>T	ENST00000260228.2	-	8	1106	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	365	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P365H(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGTAGTGGGGACCTGAAAA	0.418000													16	99					4.7546e-09	6.67856e-09	0.004007	1	0
WIPI1	55062	broad.mit.edu	37	17	66430737	66430737	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:66430737C>T	ENST00000262139.5	-	7	651	c.652G>A	c.(652-654)Gat>Aat	p.D218N	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.D136N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	218					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.D218N(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTTTGCCCATCAGGGACAGAG	0.498000													7	88					0	0	0.004482	0	0
PID1	55022	broad.mit.edu	37	2	230020666	230020666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:230020666C>A	ENST00000392054.3	-	3	477	c.138G>T	c.(136-138)atG>atT	p.M46I	PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.M15I|PID1_ENST00000354069.6_Missense_Mutation_p.M48I|PID1_ENST00000482518.2_5'UTR	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	48						cytoplasm		p.M46I(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TAGACTTCAGCATGGTCTGAA	0.438000													26	168					3.08376e-08	4.23316e-08	0.003330	1	0
PPP1R7	5510	broad.mit.edu	37	2	242092932	242092932	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:242092932G>T	ENST00000234038.6	+	2	568	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G32W|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G32W|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G32W	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	32						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	p.G32W(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGATGAAGAAGGGAAGAAACA	0.547000													20	97					1.9806e-07	2.6408e-07	0.002299	1	0
COL22A1	169044	broad.mit.edu	37	8	139628254	139628254	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:139628254G>C	ENST00000303045.6	-	55	4360	c.3914C>G	c.(3913-3915)cCa>cGa	p.P1305R	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1285R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1305	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1305R(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATCTTTTCCTGGTAACCCTTC	0.567000										HNSCC(7;0.00092)			33	113					0	0	0.003271	0	0
RASSF8	11228	broad.mit.edu	37	12	26217434	26217434	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:26217434G>C	ENST00000405154.2	+	3	306	c.107G>C	c.(106-108)cGa>cCa	p.R36P	RASSF8_ENST00000381352.3_Missense_Mutation_p.R36P|RASSF8_ENST00000541490.1_Missense_Mutation_p.R36P|RASSF8_ENST00000282884.9_Missense_Mutation_p.R36P|RASSF8_ENST00000542865.1_Missense_Mutation_p.R36P	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	36	Ras-associating.				signal transduction			p.R36P(4)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TACATAGGTCGAACTGGAAGG	0.338000													53	164					0	0	0.003610	0	0
COG5	10466	broad.mit.edu	37	7	107013135	107013135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:107013135C>T	ENST00000393603.2	-	8	1104	c.833G>A	c.(832-834)aGt>aAt	p.S278N	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.S278N|COG5_ENST00000297135.3_Missense_Mutation_p.S278N	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	278					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.S278N(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCCACAACACTGGTAATAGT	0.398000													13	92					0	0	0.001368	0	0
LRRK2	120892	broad.mit.edu	37	12	40689416	40689416	+	Silent	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:40689416A>C	ENST00000298910.7	+	23	3124	c.3066A>C	c.(3064-3066)gcA>gcC	p.A1022A	LRRK2_ENST00000343742.2_Silent_p.A1022A	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1022					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A1022A(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGAATGCACTCACGAGCT	0.348000													18	105					0	0	0.001523	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:63010527C>G	ENST00000439174.2	-	4	1227	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	GNA13_ENST00000541118.1_Missense_Mutation_p.E233Q	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	328					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000													14	155					0	0	0.003163	0	0
NOL6	65083	broad.mit.edu	37	9	33467207	33467207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:33467207C>A	ENST00000379471.2	-	14	1866	c.1779G>T	c.(1777-1779)caG>caT	p.Q593H	NOL6_ENST00000455041.2_Missense_Mutation_p.Q541H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	593					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.Q593H(2)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGCTCCGTCCTGGAAACGCC	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	84					4.3838e-07	5.75612e-07	0.001855	1	0
OR11H4	390442	broad.mit.edu	37	14	20711267	20711267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:20711267G>T	ENST00000315409.2	+	1	370	c.317G>T	c.(316-318)gGg>gTg	p.G106V		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCATTTTCTGGGTGCTTCCTC	0.453000													50	174					1.81118e-26	3.32509e-26	0.003610	1	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185390	32185390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:32185390C>A	ENST00000329621.4	-	1	180	c.149G>T	c.(148-150)gGg>gTg	p.G50V		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	50	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.G50V(2)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						GCCGAAAGCCCCACAGCCGTT	0.562000													14	97					1.3612e-06	1.75677e-06	0.003163	1	0
KPNB1	3837	broad.mit.edu	37	17	45755523	45755523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:45755523C>G	ENST00000290158.4	+	18	2622	c.2215C>G	c.(2215-2217)Ctt>Gtt	p.L739V	KPNB1_ENST00000540627.1_Missense_Mutation_p.L594V|KPNB1_ENST00000537679.1_Missense_Mutation_p.L523V|KPNB1_ENST00000535458.2_Missense_Mutation_p.L594V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	739					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.L739V(2)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTGAATACTCTTCAGCAGGC	0.438000													26	219					0	0	0.003954	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097635	38097635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:38097635G>T	ENST00000261439.4	+	14	2677	c.2322G>T	c.(2320-2322)tgG>tgT	p.W774C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.W868C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	774						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTACAGTGTGGGAAAAGATGC	0.408000													28	212					4.87955e-14	7.83843e-14	0.005443	1	0
USP9X	8239	broad.mit.edu	37	X	41064746	41064746	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:41064746G>T	ENST00000324545.7	+	32	5648	c.5015_splice	c.e32+1	p.R1672_splice	USP9X_ENST00000378308.2_Splice_Site_p.R1672_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1672					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.R1672M(2)|p.R1665M(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACAGTTCAGGTAAACTATG	0.373000													22	74					1.10513e-12	1.70716e-12	0.002299	1	0
TBC1D16	125058	broad.mit.edu	37	17	77925310	77925310	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:77925310T>A	ENST00000310924.2	-	5	1143	c.1028A>T	c.(1027-1029)gAc>gTc	p.D343V		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	343						intracellular	Rab GTPase activator activity	p.D343V(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGACAGCTTGTCCAGGCCGCC	0.612000													26	140					0	0	0.004656	0	0
EPHA6	285220	broad.mit.edu	37	3	96706286	96706286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:96706286G>T	ENST00000389672.5	+	3	601	c.563G>T	c.(562-564)cGt>cTt	p.R188L	EPHA6_ENST00000470610.2_Missense_Mutation_p.R188L|EPHA6_ENST00000542517.1_Missense_Mutation_p.R94L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	93	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R94L(4)|p.R188L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGATCTCCCGTGATGCAGCT	0.403000													48	160					3.54909e-21	6.26798e-21	0.002852	1	0
OR6V1	346517	broad.mit.edu	37	7	142749605	142749605	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142749605C>G	ENST00000418316.1	+	1	189	c.168C>G	c.(166-168)ccC>ccG	p.P56P		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56P(4)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TACATACACCCATGTACTTCT	0.498000													62	364					0	0	0.003610	0	0
DPEP2	64174	broad.mit.edu	37	16	68021439	68021439	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:68021439G>T	ENST00000412757.2	-	12	2096	c.1431C>A	c.(1429-1431)gcC>gcA	p.A477A	DPEP2_ENST00000393847.1_Silent_p.A477A|DPEP2_ENST00000572888.1_Silent_p.A477A			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	477					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.A477A(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGGGAAGGTGGCCACAACTG	0.547000													71	293					1.15062e-32	2.13838e-32	0.003610	1	0
IARS2	55699	broad.mit.edu	37	1	220311269	220311269	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:220311269A>G	ENST00000366922.1	+	17	2174	c.1843A>G	c.(1843-1845)Aaa>Gaa	p.K615E	IARS2_ENST00000302637.5_Missense_Mutation_p.K687E			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	687					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.K687E(2)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGATCAAAGCAAAGAGCCTCC	0.418000													15	151					0	0	0.004990	0	0
DERL1	79139	broad.mit.edu	37	8	124033690	124033690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:124033690C>A	ENST00000259512.4	-	6	803	c.503G>T	c.(502-504)gGc>gTc	p.G168V	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Missense_Mutation_p.G68V|DERL1_ENST00000405944.3_Missense_Mutation_p.G168V|DERL1_ENST00000523036.1_Missense_Mutation_p.G68V|DERL1_ENST00000419562.2_Missense_Mutation_p.G68V	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	168					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	p.G168V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CACTTACGAGCCTCCGATGAT	0.353000													30	234					1.38854e-25	2.53377e-25	0.008361	1	0
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:98146809G>T	ENST00000357947.3	-	14	1978	c.1753C>A	c.(1753-1755)Cac>Aac	p.H585N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592000													11	113					1.56452e-12	2.41064e-12	0.007413	1	0
ANGPT4	51378	broad.mit.edu	37	20	869027	869027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:869027G>A	ENST00000381922.3	-	3	623	c.521C>T	c.(520-522)aCc>aTc	p.T174I	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T174I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	174					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T174I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGCTTGTTGGTGGACAGAAA	0.582000													21	97					0	0	0.001523	0	0
MYOCD	93649	broad.mit.edu	37	17	12647645	12647645	+	Missense_Mutation	SNP	G	G	C	rs140013261	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:12647645G>C	ENST00000425538.1	+	8	1063	c.863G>C	c.(862-864)cGg>cCg	p.R288P	MYOCD_ENST00000343344.4_Missense_Mutation_p.R288P|MYOCD_ENST00000395988.1_Missense_Mutation_p.R192P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	288					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.R288P(4)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTACGCTCGGCTGCTCCAG	0.557000													17	81					0	0	0.004990	0	0
OR5M3	219482	broad.mit.edu	37	11	56237426	56237426	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:56237426A>T	ENST00000312240.2	-	1	588	c.548T>A	c.(547-549)aTc>aAc	p.I183N		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I183N(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCATTTTGATGAGAGGTGG	0.408000													31	177					0	0	0.002096	0	0
EPG5	57724	broad.mit.edu	37	18	43497731	43497731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:43497731G>C	ENST00000282041.5	-	17	3186	c.3152C>G	c.(3151-3153)tCa>tGa	p.S1051*		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1051					autophagy			p.S1051*(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CAAATGTCTTGACTGGACCAG	0.428000													6	172					0	0	0.001984	0	0
FOXP2	93986	broad.mit.edu	37	7	114284743	114284743	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:114284743G>T	ENST00000393500.3	+	14	1588	c.768G>T	c.(766-768)tcG>tcT	p.S256S	FOXP2_ENST00000393491.3_Silent_p.S239S|FOXP2_ENST00000360232.4_Silent_p.S331S|FOXP2_ENST00000393494.2_Silent_p.S331S|FOXP2_ENST00000408937.3_Silent_p.S356S|FOXP2_ENST00000403559.4_Silent_p.S348S|FOXP2_ENST00000393489.3_Silent_p.S239S|FOXP2_ENST00000390668.3_Silent_p.S355S|FOXP2_ENST00000393498.2_Silent_p.S310S|FOXP2_ENST00000378237.3_Silent_p.S331S|FOXP2_ENST00000350908.4_Silent_p.S331S			O15409	FOXP2_HUMAN	forkhead box P2	331	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.S356S(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTACAGCTCGTCACATGAGG	0.468000													11	80					7.03913e-09	9.84174e-09	0.001368	1	0
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692000													32	175					0	0	0.008361	0	0
GRID2	2895	broad.mit.edu	37	4	94159624	94159624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:94159624G>T	ENST00000282020.4	+	8	1486	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	GRID2_ENST00000510992.1_Missense_Mutation_p.G315C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	410					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G410C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGAGCTTGGCAGAGGTGT	0.408000													26	189					1.26454e-06	1.64255e-06	0.005443	1	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs148949542	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:39240729A>G	ENST00000391417.4	+	1	271	c.271A>G	c.(271-273)Atg>Gtg	p.M91V		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgtatgtccagctg	0.677000													3	41					0	0	0.004482	0	0
KMT2D	8085	broad.mit.edu	37	12	49436374	49436374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:49436374C>G	ENST00000301067.7	-	27	5836	c.5837G>C	c.(5836-5838)gGc>gCc	p.G1946A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.G1946A(2)|p.G1676A(2)									CTGGCAGAGGCCTGGGTAGGA	0.557000													27	64					0	0	0.005443	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184741	32184741	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:32184741G>T	ENST00000375023.3	-	11	1980	c.1842C>A	c.(1840-1842)ctC>ctA	p.L614L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	614	EGF-like 15; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.L614L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGAGGGGCAGAGGCAAAAGA	0.527000													23	118					1.85244e-09	2.62031e-09	0.003330	1	0
WDR89	112840	broad.mit.edu	37	14	64065848	64065848	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:64065848T>C	ENST00000394942.2	-	2	901	c.813A>G	c.(811-813)gaA>gaG	p.E271E	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Silent_p.E271E	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	271								p.E271E(2)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CCAAAGCATCTTCTTTCATGT	0.373000													64	240					0	0	0.003610	0	0
PCDH10	57575	broad.mit.edu	37	4	134073054	134073054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:134073054C>A	ENST00000264360.4	+	1	2585	c.1759C>A	c.(1759-1761)Cgt>Agt	p.R587S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R587S(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTCCAGCGCGTGAGGTGCT	0.662000													9	87					0.00829132	0.00963068	0.008291	1	0
POLE	5426	broad.mit.edu	37	12	133256133	133256133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:133256133C>G	ENST00000320574.5	-	6	571	c.528G>C	c.(526-528)aaG>aaC	p.K176N	POLE_ENST00000535270.1_Missense_Mutation_p.K149N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	176					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.K176N(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCTCCCTGTTCTTCTTCACGG	0.507000								DNA polymerases (catalytic subunits)					21	158					0	0	0.002780	0	0
EIF2D	1939	broad.mit.edu	37	1	206785640	206785640	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:206785640C>A	ENST00000271764.2	-	1	264	c.56_splice	c.e1+1	p.R19_splice	EIF2D_ENST00000367114.3_Splice_Site_p.R19_splice	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	19					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.R19M(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCCCTCACCTGTCCGACCC	0.617000													48	141					5.13769e-22	9.15387e-22	0.003610	1	0
FMN2	56776	broad.mit.edu	37	1	240370500	240370500	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:240370500C>A	ENST00000319653.9	+	5	2618	c.2388C>A	c.(2386-2388)gtC>gtA	p.V796V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	796	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.V939V(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAATATCAGTCCAGCTCGACA	0.577000													46	121					6.68952e-21	1.17115e-20	0.003214	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253953	39253953	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:39253953G>T	ENST00000333822.4	-	1	440	c.384C>A	c.(382-384)agC>agA	p.S128R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	128	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agatgctgcagctggggcggc	0.672000													5	6					8.12818e-05	9.95826e-05	0.001984	1	0
CDH10	1008	broad.mit.edu	37	5	24509715	24509715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:24509715C>A	ENST00000264463.4	-	7	1723	c.1216G>T	c.(1216-1218)Gta>Tta	p.V406L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V406L(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGCCATTACAGTACCAATG	0.438000										HNSCC(23;0.051)			22	130					1.10923e-09	1.58013e-09	0.002780	1	0
VAC14	55697	broad.mit.edu	37	16	70765433	70765433	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:70765433C>T	ENST00000261776.5	-	14	1886	c.1626G>A	c.(1624-1626)cgG>cgA	p.R542R		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	542					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R542R(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGGAGCTTCCGTTCGCTGC	0.507000													8	189					0	0	0.006214	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394394	233394394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:233394394C>A	ENST00000258229.8	-	5	1448	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	405						integral to membrane		p.S405I(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGACTTTACACTGGTCTTCTC	0.532000													28	224					7.01153e-11	1.0431e-10	0.007291	1	0
FAM171A1	221061	broad.mit.edu	37	10	15325952	15325952	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:15325952T>A	ENST00000378116.4	-	2	256	c.250A>T	c.(250-252)Agt>Tgt	p.S84C		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	84						integral to membrane		p.S84C(4)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCAACTGACTGCCCAGCTTA	0.537000													17	136					0	0	0.006122	0	0
DDX11	1663	broad.mit.edu	37	12	31253967	31253967	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:31253967T>G	ENST00000407793.2	+	20	2206	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	DDX11_ENST00000542838.1_Missense_Mutation_p.V652G|DDX11_ENST00000350437.4_Missense_Mutation_p.V652G|DDX11_ENST00000228264.6_Missense_Mutation_p.V626G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.V652G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	652					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.V652G(4)|p.V652A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTCACGTGATCCCTCCA	0.577000										Multiple Myeloma(12;0.14)			62	252					0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21713354	21713354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:21713354T>A	ENST00000261195.2	-	8	1389	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	379					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.T379S(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTTCAGGGTTTCCACGTTG	0.378000													29	273					0	0	0.002445	0	0
DCT	1638	broad.mit.edu	37	13	95121061	95121061	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:95121061G>T	ENST00000377028.5	-	2	947	c.534C>A	c.(532-534)aaC>aaA	p.N178K	DCT_ENST00000446125.1_Missense_Mutation_p.N178K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	178					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.N178K(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAACACTGCAGTTGGCAAACT	0.453000													55	227					1.27862e-28	2.36897e-28	0.003610	1	0
GPR61	83873	broad.mit.edu	37	1	110086511	110086511	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:110086511C>A	ENST00000527748.1	+	2	1550	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	289						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L289L(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGTGGTTCTCCTGGCTGTGG	0.617000													24	122					3.99451e-17	6.8348e-17	0.001786	1	0
TUBA8	51807	broad.mit.edu	37	22	18613793	18613793	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:18613793G>A	ENST00000330423.3	+	5	1313	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E348K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E414K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AGAGGGGATGGAAGAAGGAGA	0.542000													20	92					0	0	0.007413	0	0
MYH13	8735	broad.mit.edu	37	17	10222113	10222113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10222113C>G	ENST00000418404.3	-	26	3895	c.3732G>C	c.(3730-3732)aaG>aaC	p.K1244N	MYH13_ENST00000570743.1_Missense_Mutation_p.K1244N|MYH13_ENST00000252172.4_Missense_Mutation_p.K1244N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1244					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1244N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTACCTTTGACTTGGAGAGAG	0.562000													14	106					0	0	0.004990	0	0
PAX4	5078	broad.mit.edu	37	7	127253901	127253901	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:127253901A>T	ENST00000341640.2	-	4	652	c.447T>A	c.(445-447)agT>agA	p.S149R	PAX4_ENST00000378740.2_Missense_Mutation_p.S149R|PAX4_ENST00000463946.1_Missense_Mutation_p.S147R|PAX4_ENST00000338516.3_Missense_Mutation_p.S157R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	157					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S149R(2)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCTCAGAGCCACTATGGGGAG	0.572000													16	98					0	0	0.004990	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858239	27858239	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:27858239C>G	ENST00000359303.2	-	1	331	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111S(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GTGAATAGCACAGAGGTTGGT	0.547000													15	124					0	0	0.003163	0	0
BRINP2	57795	broad.mit.edu	37	1	177250580	177250580	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:177250580G>T	ENST00000361539.4	+	8	2580	c.2268G>T	c.(2266-2268)gtG>gtT	p.V756V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		756						extracellular region		p.V756V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACAATGAGGTGGGCAGGATCC	0.552000													23	154					1.10923e-09	1.58013e-09	0.002780	1	0
OR6F1	343169	broad.mit.edu	37	1	247875336	247875336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:247875336C>A	ENST00000302084.2	-	1	769	c.722G>T	c.(721-723)tGc>tTc	p.C241F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241F(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGCGAGGAGCACGTGGAGAA	0.527000													45	214					9.85913e-13	1.5269e-12	0.002222	1	0
FBXO40	51725	broad.mit.edu	37	3	121341414	121341414	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:121341414A>T	ENST00000338040.4	+	3	1552	c.1138A>T	c.(1138-1140)Act>Tct	p.T380S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	380					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.T380S(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGCAGTGGATACTTCAGATTT	0.483000													41	121					0	0	0.002522	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305908	9305908	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrY:9305908G>T	ENST00000451548.1	+	3	610		c.e3-1		AC006156.1_ENST00000450145.1_Intron|TSPY3_ENST00000440483.1_Intron|TSPY1_ENST00000423647.2_Splice_Site|AC006156.1_ENST00000423213.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1						cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	p.?(2)		lung(4)	4						TGTCCTGACAGGTGGGAGAAG	0.458000													37	413					6.70999e-13	1.04454e-12	0.004289	1	0
ROBO2	6092	broad.mit.edu	37	3	75986693	75986693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:75986693C>T	ENST00000487694.3	+	2	328	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P17S(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GACATGGGCTCCGGGACTGTT	0.458000													4	33					0	0	0.000248	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634999	122634999	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:122634999G>A	ENST00000249284.2	-	1	755	c.690C>T	c.(688-690)gcC>gcT	p.A230A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	230					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.A230A(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAATAAGACGGCAAGGGACC	0.433000													25	133					0	0	0.002780	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:57896476G>T	ENST00000381227.1	+	25	3759	c.3346G>T	c.(3346-3348)Gtt>Ttt	p.V1116F	POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116F|POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109F|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041F			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(2)|p.V1116I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000													19	116					5.03518e-11	7.54653e-11	0.007413	1	0
CLRN2	645104	broad.mit.edu	37	4	17524543	17524543	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:17524543C>A	ENST00000511148.2	+	2	412	c.310C>A	c.(310-312)Ctc>Atc	p.L104I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	104						integral to membrane		p.L121I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATTCTGCTGCTCCTCTTCCT	0.557000													40	258					5.04308e-16	8.50844e-16	0.006230	1	0
LAMA1	284217	broad.mit.edu	37	18	6943380	6943380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:6943380C>A	ENST00000389658.3	-	62	8959	c.8866G>T	c.(8866-8868)Ggt>Tgt	p.G2956C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2956	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2956C(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCCAGCACCATTGTTGACA	0.408000													18	162					9.16793e-09	1.27005e-08	0.004990	1	0
SLC5A1	6523	broad.mit.edu	37	22	32482262	32482262	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:32482262T>A	ENST00000266088.4	+	10	1327	c.1077T>A	c.(1075-1077)gtT>gtA	p.V359V	SLC5A1_ENST00000543737.1_Silent_p.V232V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	359					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.V359V(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTACCAAGGTTGGCTGTACCA	0.493000													34	179					0	0	0.002836	0	0
GABBR2	9568	broad.mit.edu	37	9	101216375	101216375	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:101216375G>T	ENST00000259455.2	-	7	1583	c.1124C>A	c.(1123-1125)aCa>aAa	p.T375K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	375					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T375K(2)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCATGCAGTGTCTCCATGGC	0.592000													15	67					1.99824e-07	2.64679e-07	0.004990	1	0
DNAH2	146754	broad.mit.edu	37	17	7734558	7734558	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:7734558C>G	ENST00000572933.1	+	80	13845	c.12385C>G	c.(12385-12387)Ctc>Gtc	p.L4129V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L4129V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4129					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L4129V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCACAAACCCTCTTTGATAC	0.562000													25	339					0	0	0.003954	0	0
CDH20	28316	broad.mit.edu	37	18	59166451	59166451	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:59166451C>A	ENST00000262717.4	+	3	677	c.279C>A	c.(277-279)tcC>tcA	p.S93S	CDH20_ENST00000536675.2_Silent_p.S93S|CDH20_ENST00000538374.1_Silent_p.S93S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	93	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S93S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGACGGATCCATCAAATACA	0.483000													6	60					0.00198382	0.00234029	0.001984	1	0
FAM107A	11170	broad.mit.edu	37	3	58555486	58555486	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:58555486C>A	ENST00000394481.1	-	3	660	c.102G>T	c.(100-102)ctG>ctT	p.L34L	FAM107A_ENST00000447756.2_Silent_p.L62L|FAM107A_ENST00000360997.2_Silent_p.L34L|FAM107A_ENST00000464064.1_Silent_p.L34L|FAM107A_ENST00000474531.1_Silent_p.L65L	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	34					regulation of cell growth	nucleus	protein binding	p.L34L(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CGGGGTTCAGCAGCTTCTTGG	0.622000													27	156					2.48779e-11	3.7472e-11	0.005443	1	0
OR2L3	391192	broad.mit.edu	37	1	248224602	248224602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248224602G>T	ENST00000359959.3	+	1	619	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207L(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CATCTTTCTCGTGTTTCCCTT	0.493000													19	283					7.87624e-14	1.26187e-13	0.002780	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851711	14851711	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:14851711A>T	ENST00000358984.4	+	36	3591	c.3411A>T	c.(3409-3411)gtA>gtT	p.V1137V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1222								p.V1137V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAACAGTAACAAAAAGGG	0.353000													6	47					0	0	0.001168	0	0
TMEM168	64418	broad.mit.edu	37	7	112424746	112424746	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:112424746C>A	ENST00000312814.5	-	2	695	c.135G>T	c.(133-135)ttG>ttT	p.L45F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L45F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	45						integral to membrane|transport vesicle		p.L45F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATATAGCAACCAATAAATTGA	0.348000													15	74					6.31663e-08	8.55436e-08	0.003163	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896946	48896946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:48896946C>T	ENST00000394754.1	+	9	3290	c.3176C>T	c.(3175-3177)aCa>aTa	p.T1059I	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T1059I|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T1012I|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T1059I|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.T321I|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.T355I|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T1059I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1012					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T4I(4)|p.T1059I(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCGGTGATACATCTTCCAAT	0.378000													20	145					0	0	0.007413	0	0
LRRN2	10446	broad.mit.edu	37	1	204588984	204588984	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:204588984G>T	ENST00000367175.1	-	1	2349	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	LRRN2_ENST00000367177.3_Missense_Mutation_p.S46Y|LRRN2_ENST00000367176.3_Missense_Mutation_p.S46Y			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	46	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.S46Y(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCGCGGTAGGACGAGCGGGG	0.667000													9	81					0.00448238	0.00524682	0.004482	1	0
GRK5	2869	broad.mit.edu	37	10	121212201	121212201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:121212201A>T	ENST00000392870.2	+	14	1752	c.1423A>T	c.(1423-1425)Aag>Tag	p.K475*	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Nonsense_Mutation_p.K370*	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	475	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.K475*(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGTGTACTGTAAGGACGTGCT	0.622000													13	88					0	0	0.001855	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143691	142143691	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142143691G>T	ENST00000390373.2	-	0	304																											AGTCTGAGAGGGAGCAGCTGA	0.527000													18	143					6.94344e-10	1.00331e-09	0.006122	1	0
EPHA4	2043	broad.mit.edu	37	2	222428583	222428583	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:222428583C>A	ENST00000281821.2	-	3	732	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	EPHA4_ENST00000409854.1_Missense_Mutation_p.G231C|EPHA4_ENST00000409938.1_Missense_Mutation_p.G231C|EPHA4_ENST00000392071.4_Missense_Mutation_p.G180C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	231	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G231C(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACACAGGAGCCTCGAACTTCC	0.512000													36	221					3.62531e-18	6.27417e-18	0.004289	1	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	29					0	0	0.004672	0	0
KRT16P6	353194	broad.mit.edu	37	17	16723389	16723389	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:16723389G>T	ENST00000417510.1	-	0	730																											CCACACTCATGCGCAGGTTCA	0.562000													8	146					1.26484e-09	1.79757e-09	0.003080	1	0
AHI1	54806	broad.mit.edu	37	6	135611635	135611635	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:135611635C>T	ENST00000367800.4	-	26	3730	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	AHI1_ENST00000417892.2_3'UTR|AHI1_ENST00000457866.2_Missense_Mutation_p.E1172K	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1172						adherens junction|cilium|microtubule basal body		p.E1172K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGGTCCTCATGGCTCTGT	0.428000													17	342					0	0	0.006122	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107242	249107242	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.I187I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652000													11	111					0	0	0.008291	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													5	135					0	0	0.001168	0	0
CTSC	1075	broad.mit.edu	37	11	88027474	88027474	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:88027474C>T	ENST00000227266.5	-	7	1206	c.1092G>A	c.(1090-1092)ttG>ttA	p.L364L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	364					immune response	lysosome	cysteine-type endopeptidase activity	p.L364L(2)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATGATGGACCAACTCAAGCT	0.458000													38	174					0	0	0.004878	0	0
C1orf173	127254	broad.mit.edu	37	1	75055428	75055428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:75055428G>T	ENST00000326665.5	-	12	2281	c.2063C>A	c.(2062-2064)tCc>tAc	p.S688Y	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S491Y	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	688	Glu-rich.							p.S688Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGTTTCCCGGACTTCTCAGA	0.458000													45	264					7.05121e-23	1.26754e-22	0.002522	1	0
C1orf173	127254	broad.mit.edu	37	1	75055641	75055641	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:75055641C>G	ENST00000326665.5	-	12	2068	c.1850G>C	c.(1849-1851)aGg>aCg	p.R617T	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.R420T	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.							p.R617T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAGATGACCTTCTGGCACT	0.438000													17	121					0	0	0.006122	0	0
GPR12	2835	broad.mit.edu	37	13	27333529	27333529	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:27333529G>A	ENST00000405846.3	-	2	657	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	GPR12_ENST00000381436.2_Silent_p.L146L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	146						integral to plasma membrane		p.L146L(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGGTACGTCAGAGCGTAGTAC	0.577000													21	100					0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11514989	11514989	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:11514989T>C	ENST00000262442.3	+	4	864	c.796T>C	c.(796-798)Tat>Cat	p.Y266H	DNAH9_ENST00000579828.1_Missense_Mutation_p.Y266H|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.Y266H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	266	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y266H(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAATACATCTATAATCAACT	0.448000													25	118					0	0	0.003954	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558265	11558265	+	Silent	SNP	C	C	T	rs149732361		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:11558265C>T	ENST00000252455.2	+	11	1197	c.861C>T	c.(859-861)acC>acT	p.T287T	PRKCSH_ENST00000592741.1_Silent_p.T287T|PRKCSH_ENST00000591462.1_Silent_p.T287T|PRKCSH_ENST00000589838.1_Silent_p.T287T|PRKCSH_ENST00000412601.1_Silent_p.T287T|PRKCSH_ENST00000587327.1_Silent_p.T287T	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	287	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.T287T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CACTGCCCACCGACCTTCCAG	0.677000													5	37					0	0	0.000602	0	0
CD200R1	131450	broad.mit.edu	37	3	112648181	112648181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:112648181C>A	ENST00000471858.1	-	3	539	c.307G>T	c.(307-309)Gag>Tag	p.E103*	CD200R1_ENST00000295863.4_Nonsense_Mutation_p.E81*|CD200R1_ENST00000490004.1_Nonsense_Mutation_p.E103*|CD200R1_ENST00000440122.2_Nonsense_Mutation_p.E126*|CD200R1_ENST00000308611.3_Nonsense_Mutation_p.E126*	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	103	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.E126*(4)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTATTCTCTCATCAGTACAG	0.443000													48	171					2.37804e-12	3.64552e-12	0.003610	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138745860	138745860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:138745860G>T	ENST00000242351.5	-	9	2334	c.2018C>A	c.(2017-2019)tCc>tAc	p.S673Y	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S673Y|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S795Y	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	673	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.S673Y(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAGTTTTGGAAGCTATGTT	0.403000													34	194					3.93418e-24	7.13587e-24	0.004289	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	66					0	0	0.001168	0	0
SBK1	388228	broad.mit.edu	37	16	28331646	28331646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:28331646G>T	ENST00000341901.4	+	4	1468	c.679G>T	c.(679-681)Ggg>Tgg	p.G227W		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	227	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.G227W(1)|p.G227V(1)		kidney(1)|lung(3)|ovary(1)	5						CCGCGCCGACGGGCTGGCGGT	0.731000													4	27					0.00621372	0.00724534	0.006214	1	0
RYR3	6263	broad.mit.edu	37	15	34115267	34115267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:34115267C>A	ENST00000389232.4	+	81	11136	c.11066C>A	c.(11065-11067)tCt>tAt	p.S3689Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3684Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3689					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S3688Y(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTATGCAGTCTTGCAGGTAA	0.433000													12	70					4.3838e-07	5.75612e-07	0.001855	1	0
NID2	22795	broad.mit.edu	37	14	52507529	52507529	+	Silent	SNP	C	C	G	rs146481572		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:52507529C>G	ENST00000216286.5	-	8	1865	c.1866G>C	c.(1864-1866)ccG>ccC	p.P622P	NID2_ENST00000541773.1_Silent_p.P569P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	622	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.P622P(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTCCTCTCCCGGGTAGAATG	0.478000													57	146					0	0	0.003610	0	0
EMR1	2015	broad.mit.edu	37	19	6897298	6897298	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:6897298G>A	ENST00000312053.4	+	4	414	c.377G>A	c.(376-378)gGc>gAc	p.G126D	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.G126D|EMR1_ENST00000450315.3_Missense_Mutation_p.G126D	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	126	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G126D(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGAAAGCCGGGCAATTTCTCC	0.498000													6	104					0	0	0.001984	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468562	26468562	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:26468562G>A	ENST00000312541.5	+	8	1617	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BTN2A1_ENST00000541522.1_Missense_Mutation_p.E396K|BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	457	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane		p.E457K(2)|p.E443K(2)		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						CCTGGACTATGAAGCTGGAGA	0.542000													23	152					0	0	0.001882	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594075	7594075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:7594075G>T	ENST00000342415.5	+	2	324	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	89					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	p.E89*(2)		kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TACCAAAGAAGAAGAGGTACC	0.333000													16	70					4.14922e-12	6.31266e-12	0.004007	1	0
IL7R	3575	broad.mit.edu	37	5	35876456	35876456	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:35876456C>G	ENST00000303115.3	+	8	1377	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	416					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P416P(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCACGCTGCCCCCTCCATTTT	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						28	102					0	0	0.005443	0	0
PCDH15	65217	broad.mit.edu	37	10	55721653	55721653	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:55721653C>T	ENST00000373965.2	-	23	3284		c.e23-1		PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.?(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGTAATCCCtaaaataaaa	0.308000										HNSCC(58;0.16)			17	98					0	0	0.004007	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252230	30252230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:30252230C>A	ENST00000303775.5	-	4	383	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	120					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.V120L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGATTAAACACCAGAAGATCA	0.289000													26	164					4.74835e-14	7.66847e-14	0.002096	1	0
WWTR1	25937	broad.mit.edu	37	3	149374727	149374727	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:149374727C>G	ENST00000465804.1	-	3	623	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	WWTR1_ENST00000360632.3_Missense_Mutation_p.E123Q|WWTR1_ENST00000467467.1_Missense_Mutation_p.E123Q	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	123					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.E123Q(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGTGGCAGCTCGTCGGTCACG	0.687000			T	CAMTA1	epitheliod hemangioendothelioma								18	37					0	0	0.008871	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973836	69973836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:69973836G>T	ENST00000305231.7	+	5	1152	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	369					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R369I(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAAAGACCAGAGCTTTTATA	0.418000													32	226					7.63505e-26	1.39744e-25	0.002445	1	0
PRR23C	389152	broad.mit.edu	37	3	138762887	138762887	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:138762887G>T	ENST00000413199.1	-	1	847	c.576C>A	c.(574-576)ggC>ggA	p.G192G	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.G192G	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	192	Pro-rich.							p.G192G(2)		breast(2)|lung(7)|skin(2)	11						CTCGGATGGGGCCCTCCCGGT	0.647000													16	36					1.15088e-07	1.54473e-07	0.004007	1	0
CDH6	1004	broad.mit.edu	37	5	31305452	31305452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:31305452C>A	ENST00000265071.2	+	7	1436	c.1171C>A	c.(1171-1173)Caa>Aaa	p.Q391K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q336K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q391K(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACATCTTACAAATAAGAGA	0.468000													46	119					6.48837e-15	1.06494e-14	0.002522	1	0
COBL	23242	broad.mit.edu	37	7	51096323	51096323	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:51096323C>T	ENST00000395542.2	-	12	2900	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	COBL_ENST00000265136.7_Missense_Mutation_p.E824K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	824								p.E824K(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCGGCCCTCATGGTGGGCA	0.627000													17	84					0	0	0.006122	0	0
ANKH	56172	broad.mit.edu	37	5	14746065	14746065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:14746065C>A	ENST00000284268.6	-	7	1159	c.829G>T	c.(829-831)Gcg>Tcg	p.A277S	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.A79S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	277					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.A277S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCAAAATCGCCACTGCCTGC	0.567000													18	55					6.94344e-10	1.00331e-09	0.006122	1	0
OR8B8	26493	broad.mit.edu	37	11	124310713	124310713	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:124310713T>C	ENST00000328064.2	-	1	341	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90S(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGATGCTGTTCTTCTTTAA	0.423000													16	117					0	0	0.004007	0	0
PDE6H	5149	broad.mit.edu	37	12	15134401	15134401	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:15134401G>A	ENST00000266395.2	+	4	349	c.243G>A	c.(241-243)ggG>ggA	p.G81G		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	81					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	p.G81G(2)		endometrium(1)|lung(6)|ovary(1)|skin(2)	10						CTCAGTTTGGGATTATCTGAA	0.473000													30	97					0	0	0.004289	0	0
CASP4	837	broad.mit.edu	37	11	104825538	104825538	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:104825538A>G	ENST00000444739.2	-	2	1108	c.198T>C	c.(196-198)cgT>cgC	p.R66R	CASP4_ENST00000393150.3_Silent_p.R10R|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	66	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R66R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTCCTGCCATACGTTGCTTCT	0.358000													35	173					0	0	0.004878	0	0
FLG	2312	broad.mit.edu	37	1	152286758	152286758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:152286758C>A	ENST00000368799.1	-	3	639	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	202					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E202*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGTCTTTCACTTAGCCTC	0.328000									Ichthyosis				8	149					0.000157383	0.000190119	0.003080	1	0
FAM135B	51059	broad.mit.edu	37	8	139380193	139380193	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:139380193C>T	ENST00000395297.1	-	2	204	c.34G>A	c.(34-36)Gta>Ata	p.V12I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	12								p.V12I(2)|p.V12L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTAGCTCTACCGAAAACTCA	0.368000										HNSCC(54;0.14)			7	221					0	0	0.001984	0	0
WDR6	11180	broad.mit.edu	37	3	49050698	49050698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:49050698C>G	ENST00000395474.3	+	2	2101	c.1821C>G	c.(1819-1821)tgC>tgG	p.C607W	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.C526W	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	577					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.C577W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CAGTCACATGCCATGGTGGCT	0.577000													17	62					0	0	0.008871	0	0
MATN1	4146	broad.mit.edu	37	1	31194492	31194492	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:31194492G>T	ENST00000373765.4	-	2	236	c.201C>A	c.(199-201)gtC>gtA	p.V67V	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	67	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.V67V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACTCGATGACCTGGGACA	0.597000													35	170					1.30293e-26	2.39931e-26	0.003271	1	0
PDE10A	10846	broad.mit.edu	37	6	165827162	165827162	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:165827162A>T	ENST00000366882.1	-	14	1229	c.1075T>A	c.(1075-1077)Tac>Aac	p.Y359N	PDE10A_ENST00000539869.2_Missense_Mutation_p.Y369N|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y359N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	359	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.Y359N(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAGCCTGTGTACAAGTCTACT	0.483000													8	44					0	0	0.004482	0	0
STOX1	219736	broad.mit.edu	37	10	70645915	70645915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:70645915G>T	ENST00000298596.6	+	3	2446	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R788M|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R678M	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	788						cytoplasm|nucleolus	DNA binding	p.R788M(2)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACAATGGAGAGGGTTGAGTCT	0.458000													14	101					3.27435e-08	4.46435e-08	0.002450	1	0
RALGPS1	9649	broad.mit.edu	37	9	129957388	129957388	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:129957388G>T	ENST00000259351.5	+	12	1196	c.929G>T	c.(928-930)gGt>gTt	p.G310V	RALGPS1_ENST00000424082.2_Missense_Mutation_p.G310V|RALGPS1_ENST00000373434.1_Missense_Mutation_p.G310V	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	310					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.G310V(4)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTGGCTCCGGTTCTGCGAGG	0.622000													32	187					7.11191e-15	1.16412e-14	0.002836	1	0
PARD3B	117583	broad.mit.edu	37	2	205978257	205978257	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:205978257A>T	ENST00000406610.2	+	6	843	c.636A>T	c.(634-636)ccA>ccT	p.P212P	PARD3B_ENST00000349953.3_Silent_p.P212P|PARD3B_ENST00000351153.1_Silent_p.P212P|PARD3B_ENST00000462231.1_Silent_p.P212P|PARD3B_ENST00000358768.2_Silent_p.P212P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	212	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction		p.P212P(4)|p.P213P(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGAGGCCCATTGGGAATAC	0.433000													15	70					0	0	0.003163	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758166	25758166	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:25758166C>G	ENST00000586223.1	+	0	2600					NR_033892.1																						ctgcactgagccacaatatgg	0.592000													5	13					0	0	0.000602	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497613	1497613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:1497613C>A	ENST00000421627.2	+	2	888	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	331					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.Q274K(2)|p.Q296K(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACGCGCTGCAGAGCCCCTT	0.667000													28	121					7.01153e-11	1.0431e-10	0.007291	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976742	47976742	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:47976742G>A	ENST00000543600.1	-	2	523	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	PTCHD4_ENST00000339488.4_Missense_Mutation_p.L179F			Q6ZW05	CF138_HUMAN	patched domain containing 4	179						integral to membrane	hedgehog receptor activity	p.L179F(3)									TAGGTCTGGAGGTAGTAGGTG	0.502000													10	52					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113988108	113988108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:113988108G>T	ENST00000297405.5	-	7	1544	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q434K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q394K|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	434						integral to membrane|plasma membrane		p.Q434K(2)|p.Q394K(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTCTATCTGTTCAGCATGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	292					1.06647e-15	1.78435e-15	0.003755	1	0
AOC3	8639	broad.mit.edu	37	17	41003966	41003966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:41003966G>T	ENST00000308423.2	+	1	766	c.606G>T	c.(604-606)aaG>aaT	p.K202N		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	202					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.K202N(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCTTCTACAAGCACCGGGGAC	0.592000													13	79					7.03913e-09	9.84174e-09	0.001368	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587735	40587735	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:40587735G>A	ENST00000450241.2	-	5	432	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	ZNF780A_ENST00000594395.1_Missense_Mutation_p.R76W|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R76W|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R75W|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R75W|ZNF780A_ENST00000414720.2_Missense_Mutation_p.R91W			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R76W(1)|p.R41W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCTGGATACCGTCTGCTTGTT	0.438000													14	118					0	0	0.007413	0	0
KCNK9	51305	broad.mit.edu	37	8	140715079	140715079	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:140715079T>C	ENST00000520439.1	-	1	220	c.157A>G	c.(157-159)Aac>Gac	p.N53D	KCNK9_ENST00000303015.1_Missense_Mutation_p.N53D			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	53						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.N53D(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CTGCTGATGTTGTACTTCCCC	0.632000													8	62					0	0	0.008291	0	0
ERBB2	2064	broad.mit.edu	37	17	37864639	37864639	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:37864639G>A	ENST00000406381.2	+	5	711	c.201G>A	c.(199-201)caG>caA	p.Q67Q	ERBB2_ENST00000269571.5_Silent_p.Q97Q|ERBB2_ENST00000578199.1_Silent_p.Q67Q|ERBB2_ENST00000540042.1_Silent_p.Q67Q|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Silent_p.Q82Q|ERBB2_ENST00000540147.1_Silent_p.Q67Q|ERBB2_ENST00000584601.1_Silent_p.Q67Q|ERBB2_ENST00000584450.1_Silent_p.Q97Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	97					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.Q97Q(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCCCACTGCAGAGGCTGCGGA	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			22	157					0	0	0.001882	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967412	106967412	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:106967412C>G	ENST00000390622.2	-	0	350																											ATCCCTTCCTCAGCCCTGGAA	0.557000													4	175					0	0	0.000248	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:10920118C>G	ENST00000298232.7	-	18	1449	c.1082G>C	c.(1081-1083)aGc>aCc	p.S361T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S379T|TPTE_ENST00000342420.5_Missense_Mutation_p.S341T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													6	136					0	0	0.001984	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741088	146741088	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:146741088G>T	ENST00000361727.3	+	4	1008	c.492G>T	c.(490-492)ctG>ctT	p.L164L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	164	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L164L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGTGCCTCTGGATTGGAATG	0.443000										HNSCC(39;0.1)			21	197					5.45024e-15	8.96988e-15	0.003330	1	0
SLC6A5	9152	broad.mit.edu	37	11	20623178	20623178	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:20623178G>T	ENST00000525748.1	+	2	780	c.507G>T	c.(505-507)gtG>gtT	p.V169V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V169V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TCACGTCCGTGCTCCCGGGCA	0.657000													6	52					8.12818e-05	9.95826e-05	0.001984	1	0
AGAP5	729092	broad.mit.edu	37	10	75435611	75435611	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:75435611C>T	ENST00000443782.2	-	7	863	c.738G>A	c.(736-738)ccG>ccA	p.P246P	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.P269P			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	269					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.P246P(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CATGATTCTCCGGGGCTTTCC	0.537000													46	248					0	0	0.003610	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96523162	96523162	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:96523162G>T	ENST00000456556.1	-	62	4059	c.3975C>A	c.(3973-3975)atC>atA	p.I1325I	ANKRD36C_ENST00000420871.2_Silent_p.I576I|ANKRD36C_ENST00000419039.2_Silent_p.I352I					ankyrin repeat domain 36C									p.I1325I(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GCTCTTCTGTGATTCTTAACT	0.343000													7	33					0.000157383	0.000190119	0.003080	1	0
SGCA	6442	broad.mit.edu	37	17	48245036	48245036	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:48245036A>T	ENST00000262018.3	+	3	287	c.251A>T	c.(250-252)cAc>cTc	p.H84L	SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000543315.1_Missense_Mutation_p.H84L|SGCA_ENST00000344627.6_Missense_Mutation_p.H84L	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	84					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.H84L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CGCAGCCCCCACCACCCTGGC	0.667000													15	69					0	0	0.004990	0	0
C1orf226	400793	broad.mit.edu	37	1	162353098	162353098	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:162353098G>A	ENST00000458626.2	+	2	616	c.444G>A	c.(442-444)ctG>ctA	p.L148L	C1orf226_ENST00000426197.2_Silent_p.L191L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	148								p.L191L(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCAGCAGTCTGGAGTATGGGA	0.622000													8	33					0	0	0.004482	0	0
WDPCP	51057	broad.mit.edu	37	2	63349192	63349192	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:63349192C>A	ENST00000409120.1	-	12	5165		c.e12-1		WDPCP_ENST00000409199.1_Splice_Site|WDPCP_ENST00000272321.7_Splice_Site|WDPCP_ENST00000398544.3_Splice_Site			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector						cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCTGATTTCCTGCAAATAAA	0.269000													16	107					1.02788e-11	1.55599e-11	0.004990	1	0
MARCH3	115123	broad.mit.edu	37	5	126253786	126253786	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:126253786C>G	ENST00000308660.5	-	2	592	c.78G>C	c.(76-78)acG>acC	p.T26T	MARCH3_ENST00000515241.1_Silent_p.T26T|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	26					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	p.T26T(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AATCCTCCACCGTCTTCACCA	0.572000													5	45					0	0	0.001984	0	0
POT1	25913	broad.mit.edu	37	7	124475408	124475408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:124475408C>G	ENST00000357628.3	-	15	2028	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	POT1_ENST00000393329.1_Missense_Mutation_p.R346T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	477					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R477T(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGCCAGATCTCACAGGAAT	0.353000													26	169					0	0	0.007291	0	0
GLP2R	9340	broad.mit.edu	37	17	9792900	9792900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:9792900G>T	ENST00000262441.5	+	13	2053	c.1540G>T	c.(1540-1542)Ggc>Tgc	p.G514C	GLP2R_ENST00000574745.1_Missense_Mutation_p.G334C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	514					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.G514C(3)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGGGGAGCTGGGCGCCCAGCC	0.637000													14	47					4.3838e-07	5.75612e-07	0.001855	1	0
NRXN1	9378	broad.mit.edu	37	2	50765774	50765774	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:50765774C>A	ENST00000404971.1	-	11	3219	c.1879_splice	c.e11-1	p.G627_splice	NRXN1_ENST00000406859.3_Splice_Site_p.G587_splice|NRXN1_ENST00000401669.2_Splice_Site_p.G587_splice|NRXN1_ENST00000406316.2_Splice_Site_p.G587_splice|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Splice_Site_p.G579_splice|NRXN1_ENST00000405472.3_Splice_Site_p.G579_splice	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	587	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.?(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGAAATGGTACCTATTTCAAA	0.463000													11	81					0.000673444	0.000802288	0.008291	1	0
CCDC28A	25901	broad.mit.edu	37	6	139106400	139106400	+	Missense_Mutation	SNP	G	G	A	rs143442772		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:139106400G>A	ENST00000332797.6	+	4	784	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	210								p.R210Q(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAACATGTTCGGGGAATGCAG	0.403000													27	143					0	0	0.005443	0	0
PAX7	5081	broad.mit.edu	37	1	18960982	18960982	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:18960982C>G	ENST00000420770.2	+	2	354	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	PAX7_ENST00000375375.3_Missense_Mutation_p.Q91E|PAX7_ENST00000400661.3_Missense_Mutation_p.Q91E	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	91	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q91E(4)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TTGCCGCTACCAGGAGACCGG	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								9	67					0	0	0.001368	0	0
DYDC2	84332	broad.mit.edu	37	10	82122230	82122230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:82122230G>T	ENST00000372199.1	+	4	629	c.31G>T	c.(31-33)Gga>Tga	p.G11*	DYDC2_ENST00000372198.1_Nonsense_Mutation_p.G25*|DYDC2_ENST00000444807.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000256039.2_Nonsense_Mutation_p.G11*|DYDC2_ENST00000372197.1_Nonsense_Mutation_p.G11*			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	11							protein binding	p.G11*(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAGGTGCTTTGGAAATTGCCT	0.443000													23	95					7.41877e-09	1.03257e-08	0.001882	1	0
LTBP2	4053	broad.mit.edu	37	14	75052556	75052556	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:75052556C>A	ENST00000261978.4	-	3	1217		c.e3+1		LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Splice_Site	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGGGACTTACCCAGCTGGTG	0.647000													16	58					3.41278e-10	5.0399e-10	0.004990	1	0
CYP4F2	8529	broad.mit.edu	37	19	16003139	16003139	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:16003139C>G	ENST00000221700.5	-	5	600	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	CYP4F2_ENST00000592328.1_Missense_Mutation_p.E169Q|CYP4F2_ENST00000011989.7_Missense_Mutation_p.E20Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	169				E -> D (in Ref. 7; AAH67440).	leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.E169Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCACACTCTCATTGAAAATC	0.507000													25	171					0	0	0.005443	0	0
CSMD3	114788	broad.mit.edu	37	8	113304844	113304844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:113304844C>G	ENST00000297405.5	-	55	8954	c.8710G>C	c.(8710-8712)Ggg>Cgg	p.G2904R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2834R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2864R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2735R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2904	Sushi 19.					integral to membrane|plasma membrane		p.G2904R(2)|p.G2864R(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAGATACCCAATATTGCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	242					0	0	0.002299	0	0
FAT3	120114	broad.mit.edu	37	11	92531802	92531802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:92531802G>A	ENST00000298047.6	+	9	5640	c.5623G>A	c.(5623-5625)Gat>Aat	p.D1875N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1725N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1875N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1875	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D1875N(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGGTGACAGATGTGAATGA	0.453000										TCGA Ovarian(4;0.039)			8	60					0	0	0.003080	0	0
CELSR2	1952	broad.mit.edu	37	1	109806746	109806746	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:109806746A>G	ENST00000271332.3	+	10	5109	c.5048A>G	c.(5047-5049)cAg>cGg	p.Q1683R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1683	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACAGGGCTTCAGGCCTCCTCT	0.632000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	97					0	0	0.000602	0	0
PRMT1	3276	broad.mit.edu	37	19	50188237	50188237	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:50188237G>A	ENST00000532489.1	+	8	1070	c.564G>A	c.(562-564)gaG>gaA	p.E188E	PRMT1_ENST00000454376.2_Silent_p.E234E|PRMT1_ENST00000391851.4_Silent_p.E216E			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	215						cytoplasm	protein methyltransferase activity	p.E210E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCATTAAGGAGCCCCTAGTGG	0.612000											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	68					0	0	0.004990	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504896	95504896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:95504896T>C	ENST00000297591.5	-	21	4867	c.4792A>G	c.(4792-4794)Acc>Gcc	p.T1598A	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1598					mRNA processing|RNA splicing	nucleus		p.T1598A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTATAAAGGTCTCATGCTTG	0.368000													29	206					0	0	0.008361	0	0
PACSIN3	29763	broad.mit.edu	37	11	47204070	47204070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:47204070C>A	ENST00000539589.1	-	4	437	c.95G>T	c.(94-96)gGg>gTg	p.G32V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G32V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	32	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.G32V(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAGCCGGTGCCCGTCCTCCAC	0.652000													16	121					2.48551e-13	3.9197e-13	0.004990	1	0
POTEA	340441	broad.mit.edu	37	8	43157198	43157198	+	RNA	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:43157198C>G	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.Q260E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTATTTTCTCAAGATGTATT	0.318000													11	98					0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10428361	10428361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10428361C>A	ENST00000245503.5	-	34	5068	c.4684G>T	c.(4684-4686)Gga>Tga	p.G1562*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Nonsense_Mutation_p.G1562*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1562					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1562*(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGATCTTTCCCTCTTCATGT	0.403000													27	160					2.09667e-21	3.71374e-21	0.003755	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735071	37735071	+	Splice_Site	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:37735071T>G	ENST00000330843.4	-	2	384		c.e2-2		RAB11FIP1_ENST00000287263.4_Splice_Site|RAB11FIP1_ENST00000522727.1_Splice_Site|RAB11FIP1_ENST00000524118.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)						protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTATACCACCTGAAAGGAGAA	0.463000													14	76					0	0	0.003163	0	0
ERCC5	2073	broad.mit.edu	37	13	103520504	103520504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:103520504G>T	ENST00000355739.4	+	12	3998	c.2575G>T	c.(2575-2577)Gga>Tga	p.G859*	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.W1284L|ERCC5_ENST00000375954.1_Nonsense_Mutation_p.G92*	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTATTTGCTTGGAAGTGATTA	0.343000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	152					0.00448238	0.00524682	0.004482	1	0
ANO6	196527	broad.mit.edu	37	12	45782068	45782068	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:45782068G>A	ENST00000320560.8	+	11	1492	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Silent_p.V430V|ANO6_ENST00000441606.2_Silent_p.V412V|ANO6_ENST00000435642.1_Silent_p.V430V|ANO6_ENST00000423947.3_Silent_p.V451V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	430					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.V430V(4)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCACGTAGTGATAAATGAGA	0.463000													46	165					0	0	0.003610	0	0
TMEM86A	144110	broad.mit.edu	37	11	18722551	18722551	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:18722551C>A	ENST00000280734.2	+	2	189	c.93C>A	c.(91-93)ccC>ccA	p.P31P	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	31						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTGGCTGCCCTCATCTAGCC	0.587000													6	448					2.0095e-06	2.57694e-06	0.001984	1	0
TDRD5	163589	broad.mit.edu	37	1	179621246	179621246	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:179621246G>A	ENST00000444136.1	+	13	2324	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E692K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E692K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	692					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E692K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTCTTGACAGAACTGGGTTA	0.413000													20	121					0	0	0.001882	0	0
C4orf17	84103	broad.mit.edu	37	4	100451036	100451036	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:100451036C>A	ENST00000514652.1	+	5	821	c.467C>A	c.(466-468)tCt>tAt	p.S156Y	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Missense_Mutation_p.S156Y			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	156								p.S156Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GGCTCCTGTTCTTCAGGGATG	0.368000													11	104					9.70103e-10	1.3951e-09	0.008291	1	0
RSBN1	54665	broad.mit.edu	37	1	114310969	114310969	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:114310969G>A	ENST00000261441.5	-	5	1764	c.1701C>T	c.(1699-1701)acC>acT	p.T567T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	567						nucleus		p.T567T(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTCACTGGTCCGAGGTA	0.433000													11	92					0	0	0.008291	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384244	236384244	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:236384244G>A	ENST00000354619.5	-	15	1432	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	411					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.L411L(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AATATCTTCAGGGCAGTTCCT	0.323000													8	79					0	0	0.003080	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:140562928C>G	ENST00000361016.2	+	1	1949	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000													23	150					0	0	0.002299	0	0
P2RY8	286530	broad.mit.edu	37	X	1584949	1584949	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:1584949T>C	ENST00000381297.4	-	2	713	c.503A>G	c.(502-504)cAc>cGc	p.H168R		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	168						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.H168R(1)		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)				GCCCAGGGCGTGCACCGGGTA	0.672000			T	CRLF2	"""B-ALL, Downs associated ALL"""								6	62					0	0	0.001168	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324130	61324130	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:61324130G>A	ENST00000283752.5	-	7	846	c.703C>T	c.(703-705)Cca>Tca	p.P235S	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	235					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P235S(2)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTTTGTATGGTATTTCCAGG	0.408000													11	179					0	0	0.001368	0	0
CHD9	80205	broad.mit.edu	37	16	53330938	53330938	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:53330938A>T	ENST00000566029.1	+	30	5790	c.5581A>T	c.(5581-5583)Aga>Tga	p.R1861*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1861*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1861*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1861*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R1861*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACCCTGACAGAGGCCAATT	0.358000													39	122					0	0	0.002522	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165312	161165312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:161165312C>A	ENST00000367996.4	-	4	1632	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	402	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.E402*(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GACCAGGGCTCCTCAGGATCC	0.547000													36	291					9.8876e-21	1.72604e-20	0.004878	1	0
MARK1	4139	broad.mit.edu	37	1	220825386	220825386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:220825386G>T	ENST00000402574.1	+	15	2227	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	MARK1_ENST00000366918.4_Missense_Mutation_p.V522F|MARK1_ENST00000366917.4_Missense_Mutation_p.V544F	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	544					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V544F(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGCCTCTGCTGTCCCCTCAGC	0.498000													17	147					1.67942e-08	2.31063e-08	0.006122	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587733	40587733	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:40587733C>A	ENST00000450241.2	-	5	434	c.123G>T	c.(121-123)cgG>cgT	p.R41R	ZNF780A_ENST00000594395.1_Silent_p.R76R|ZNF780A_ENST00000455521.1_Silent_p.R76R|ZNF780A_ENST00000595687.2_Silent_p.R75R|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.R75R|ZNF780A_ENST00000414720.2_Silent_p.R91R			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACCTGGATACCGTCTGCTTG	0.448000													15	115					2.39187e-15	3.95806e-15	0.008871	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156695	55156695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:55156695G>T	ENST00000257290.5	+	22	3427	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E792D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1032					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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	p.E1032D(2)		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)	CTGAGGAGGAGGACCTGGGCA	0.587000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			27	168					1.42536e-11	2.15229e-11	0.004656	1	0
SLC6A15	55117	broad.mit.edu	37	12	85279239	85279239	+	Silent	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:85279239A>T	ENST00000450363.3	-	4	1007	c.549T>A	c.(547-549)ccT>ccA	p.P183P	SLC6A15_ENST00000552192.1_Silent_p.P76P|SLC6A15_ENST00000266682.5_Silent_p.P183P|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	183					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P183P(4)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCACCAAAGGACACTGAT	0.368000													32	87					0	0	0.001786	0	0
NRXN1	9378	broad.mit.edu	37	2	50765775	50765775	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:50765775C>A	ENST00000404971.1	-	11	3219		c.e11-1		NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.?(6)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAATGGTACCTATTTCAAAG	0.468000													11	79					0.000673444	0.000802288	0.008291	1	0
ARGLU1	55082	broad.mit.edu	37	13	107211830	107211830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:107211830C>T	ENST00000400198.3	-	2	767	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ARGLU1_ENST00000375926.1_Silent_p.K24K	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	175	Glu-rich.							p.E175K(2)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGCTCGAGTTCTTCGAGCAAC	0.488000													24	139					0	0	0.003330	0	0
TICRR	90381	broad.mit.edu	37	15	90128938	90128938	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:90128938G>T	ENST00000268138.7	+	4	1281		c.e4-1		TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator									p.?(2)									TTCTCACGTAGGTTGCTGATG	0.448000													9	64					7.48243e-07	9.78222e-07	0.006214	1	0
APMAP	57136	broad.mit.edu	37	20	24964571	24964571	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:24964571C>A	ENST00000217456.2	-	2	470	c.180G>T	c.(178-180)ctG>ctT	p.L60L	APMAP_ENST00000447138.1_Silent_p.L60L	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein									p.L60L(2)									GAGATTCCAGCAGCATCATGG	0.502000													33	151					5.09552e-08	6.93174e-08	0.002096	1	0
OMD	4958	broad.mit.edu	37	9	95179363	95179363	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:95179363G>T	ENST00000375550.4	-	2	753	c.478C>A	c.(478-480)Ctt>Att	p.L160I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	160					cell adhesion	proteinaceous extracellular matrix		p.L160I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GATTTAGGAAGAGGAAATGGA	0.348000			T	USP6	aneurysmal bone cysts								28	147					1.77063e-15	2.95431e-15	0.005443	1	0
RGPD3	653489	broad.mit.edu	37	2	107041047	107041047	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:107041047A>T	ENST00000409886.3	-	20	3463	c.3376T>A	c.(3376-3378)Tca>Aca	p.S1126T	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1126	RanBD1 1.				intracellular transport		binding	p.S1126T(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTCTATCTGATCCAGAGAGG	0.433000													38	480					0	0	0.002852	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													10	78					0	0	0.006214	0	0
CD1E	913	broad.mit.edu	37	1	158325684	158325684	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158325684T>C	ENST00000444681.2	+	3	689	c.396T>C	c.(394-396)caT>caC	p.H132H	CD1E_ENST00000368165.3_Silent_p.H141H|CD1E_ENST00000368154.1_Silent_p.H42H|CD1E_ENST00000452291.2_Silent_p.H42H|CD1E_ENST00000368157.1_Silent_p.H42H|CD1E_ENST00000368160.3_Silent_p.H231H|CD1E_ENST00000368163.3_Silent_p.H231H|CD1E_ENST00000368166.3_Silent_p.H42H|CD1E_ENST00000368156.1_Silent_p.H141H|CD1E_ENST00000434258.1_Silent_p.H229H|CD1E_ENST00000368164.3_Silent_p.H42H|CD1E_ENST00000368167.3_Silent_p.H231H|CD1E_ENST00000368161.3_Silent_p.H231H|CD1E_ENST00000368155.3_Silent_p.H141H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	231					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.H231H(2)		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)					TTGTGTGCCATGTCTCAGGAT	0.582000													48	112					0	0	0.003610	0	0
MS4A6E	245802	broad.mit.edu	37	11	60102398	60102398	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:60102398C>G	ENST00000300182.4	+	1	95	c.30C>G	c.(28-30)acC>acG	p.T10T		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	10			T -> A (in dbSNP:rs2304934).			integral to membrane	receptor activity	p.T10T(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CCAATGAGACCATCATAATGC	0.443000													26	158					0	0	0.004656	0	0
CHD4	1108	broad.mit.edu	37	12	6697022	6697022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:6697022C>G	ENST00000309577.6	-	24	3722	c.3559G>C	c.(3559-3561)Gtg>Ctg	p.V1187L	CHD4_ENST00000544484.1_Missense_Mutation_p.V1184L|CHD4_ENST00000357008.2_Missense_Mutation_p.V1187L|CHD4_ENST00000544040.1_Missense_Mutation_p.V1180L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1187	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V1187L(4)		central_nervous_system(2)	2						TTCTTTGCCACCTGCGTGATG	0.517000													12	193					0	0	0.000978	0	0
OR4P4	81300	broad.mit.edu	37	11	55405957	55405957	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:55405957C>G	ENST00000314612.2	+	1	124	c.124C>G	c.(124-126)Ctc>Gtc	p.L42V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L42V(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGGAAACTTACTCATAATGAT	0.383000													39	88					0	0	0.004878	0	0
THADA	63892	broad.mit.edu	37	2	43801863	43801863	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:43801863C>T	ENST00000403856.1	-	12	1488	c.1341G>A	c.(1339-1341)ttG>ttA	p.L447L	THADA_ENST00000415080.2_Silent_p.L157L|THADA_ENST00000330266.7_Silent_p.L157L|THADA_ENST00000402360.2_Silent_p.L447L|THADA_ENST00000405975.2_Silent_p.L447L|THADA_ENST00000404790.1_Silent_p.L447L|THADA_ENST00000405006.4_Silent_p.L447L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	447							binding	p.L447L(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATGCCATTCCAATCGTAAAA	0.403000													23	123					0	0	0.002780	0	0
OVCH1	341350	broad.mit.edu	37	12	29598250	29598250	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:29598250C>T	ENST00000318184.5	-	23	2841	c.2842G>A	c.(2842-2844)Ggt>Agt	p.G948S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	948	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.G948S(3)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAAATGCACCTCGTACAAGG	0.373000													32	101					0	0	0.002836	0	0
FAM124B	79843	broad.mit.edu	37	2	225266018	225266018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:225266018G>T	ENST00000389874.3	-	1	693	c.468C>A	c.(466-468)taC>taA	p.Y156*	FAM124B_ENST00000409685.3_Nonsense_Mutation_p.Y156*|FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Y156*	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	156							protein binding	p.Y156*(4)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGATCATCTCGTAGAGTCTGA	0.522000													16	132					6.94344e-10	1.00331e-09	0.006122	1	0
GLI2	2736	broad.mit.edu	37	2	121726405	121726405	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:121726405C>G	ENST00000452319.1	+	6	819	c.759C>G	c.(757-759)ccC>ccG	p.P253P	GLI2_ENST00000361492.4_Silent_p.P253P|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	253					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P253P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCACCTCACCCAACTCGCTAG	0.687000													19	135					0	0	0.007413	0	0
BCHE	590	broad.mit.edu	37	3	165548428	165548428	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:165548428G>T	ENST00000264381.3	-	2	560	c.394C>A	c.(394-396)Cca>Aca	p.P132T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	132					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.P132T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GCATTTTTTGGTTTAGGTGCT	0.398000													38	141					1.36161e-19	2.36326e-19	0.004289	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	56					0	0	0.001168	0	0
C9orf64	84267	broad.mit.edu	37	9	86559772	86559772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:86559772G>A	ENST00000376344.3	-	3	946	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.Q103*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	244								p.Q244*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAAGAACCTGAGGTAATCTA	0.403000													27	109					0	0	0.006320	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784480	27784480	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:27784480G>T	ENST00000261588.4	+	23	4278	c.4259G>T	c.(4258-4260)gGc>gTc	p.G1420V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1420								p.G1420V(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGCCTCACCGGCCTGGAGCTG	0.498000													14	36					1.3612e-06	1.75677e-06	0.003163	1	0
C10orf90	118611	broad.mit.edu	37	10	128118409	128118409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:128118409G>C	ENST00000284694.7	-	7	2028	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	C10orf90_ENST00000454341.1_Missense_Mutation_p.F539L|C10orf90_ENST00000356858.3_Missense_Mutation_p.F589L|C10orf90_ENST00000480379.1_Missense_Mutation_p.F40L|C10orf90_ENST00000544758.1_Missense_Mutation_p.F733L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	636								p.F636L(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTTGGGTTTGAACAAGTTAT	0.378000													18	106					0	0	0.001523	0	0
DIAPH3	81624	broad.mit.edu	37	13	60667825	60667825	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:60667825C>A	ENST00000400324.4	-	4	652	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DIAPH3_ENST00000400330.1_Silent_p.R144R|DIAPH3_ENST00000400319.1_Silent_p.R74R|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000377908.2_Silent_p.R133R|DIAPH3_ENST00000267215.4_Silent_p.R144R	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	144	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R144L(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTCCTTTTCCCGCAATGGTG	0.333000													6	73					8.12818e-05	9.95826e-05	0.001984	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597000													28	123					0	0	0.005443	0	0
GFRAL	389400	broad.mit.edu	37	6	55223728	55223728	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:55223728G>A	ENST00000340465.2	+	6	830	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	248						integral to membrane	receptor activity	p.V248V(2)		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)			GGCAGCGTGTGACTAGAAAGT	0.373000													21	182					0	0	0.002780	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825920	146825920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:146825920T>G	ENST00000361727.3	+	7	1591	c.1075T>G	c.(1075-1077)Tca>Gca	p.S359A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	359	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S359A(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTAGAGCCCTCAAATGTGGT	0.358000										HNSCC(39;0.1)			24	195					0	0	0.003954	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123471	108123471	+	Splice_Site	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:108123471G>C	ENST00000374720.3	+	8	1007		c.e8-1		SLC44A1_ENST00000374723.1_Splice_Site|SLC44A1_ENST00000374724.1_Splice_Site|SLC44A1_ENST00000343170.7_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1							integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.?(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGTCTCCAGGAGGCACAGG	0.408000													17	124					0	0	0.004007	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013262	183013262	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:183013262T>A	ENST00000328913.3	-	13	1798	c.1501A>T	c.(1501-1503)Aaa>Taa	p.K501*	MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.K501*|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.K501*|MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.K501*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K501*(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTCTGGGCTTTGGCCTACAGT	0.488000													35	101					0	0	0.006999	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													5	20					0	0	0.001168	0	0
KCNT2	343450	broad.mit.edu	37	1	196395118	196395118	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:196395118C>A	ENST00000367433.5	-	11	1086	c.984_splice	c.e11-1	p.D329_splice	KCNT2_ENST00000294725.8_Splice_Site_p.D329_splice|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Splice_Site_p.D329_splice|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	329						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.D329Y(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATAATAATCCTATTCAAAA	0.318000													35	80					4.11147e-13	6.46701e-13	0.003755	1	0
OSBPL10	114884	broad.mit.edu	37	3	31871586	31871586	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:31871586T>A	ENST00000396556.2	-	4	797	c.675A>T	c.(673-675)gcA>gcT	p.A225A	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	225					lipid transport		lipid binding	p.A225A(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTCGGGCGGCTGCAGGCGACT	0.587000													11	66					0	0	0.000978	0	0
MYOM3	127294	broad.mit.edu	37	1	24433662	24433662	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:24433662C>T	ENST00000330966.7	-	4	468	c.306G>A	c.(304-306)cgG>cgA	p.R102R	MYOM3_ENST00000329601.7_Silent_p.R101R|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.R101R			Q5VTT5	MYOM3_HUMAN	myomesin 3	101								p.R101R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGAAGCCCACCCGCTTCTGCC	0.687000													3	17					0	0	0.000602	0	0
GHDC	84514	broad.mit.edu	37	17	40344425	40344425	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:40344425C>T	ENST00000301671.8	-	4	1164	c.723G>A	c.(721-723)cgG>cgA	p.R241R	GHDC_ENST00000593209.1_Silent_p.R241R|GHDC_ENST00000436923.2_Silent_p.R241R|GHDC_ENST00000428494.2_Silent_p.R202R|GHDC_ENST00000414034.3_Silent_p.R241R|GHDC_ENST00000587427.1_Silent_p.R241R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	241						endoplasmic reticulum|nuclear envelope		p.R241R(4)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTAGGGCCTCCCGGAGCTCAG	0.657000													19	164					0	0	0.007413	0	0
NLRP2	55655	broad.mit.edu	37	19	55508760	55508760	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:55508760C>T	ENST00000543010.1	+	12	3098	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	NLRP2_ENST00000427260.2_Silent_p.V962V|NLRP2_ENST00000448584.2_Silent_p.V985V|NLRP2_ENST00000538819.1_Silent_p.V961V|NLRP2_ENST00000537859.1_Silent_p.V963V|NLRP2_ENST00000339757.7_Silent_p.V963V|NLRP2_ENST00000263437.6_Silent_p.V982V|NLRP2_ENST00000391721.4_Silent_p.V961V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	985					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V985V(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGCCTCGTCACTCTGGACC	0.542000													46	184					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	66					3.52763e-06	4.46685e-06	0.004990	1	0
TBC1D1	23216	broad.mit.edu	37	4	38097636	38097636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:38097636G>T	ENST00000261439.4	+	14	2678	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.E869*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	775						nucleus	Rab GTPase activator activity	p.W774_E775>C*(2)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TACAGTGTGGGAAAAGATGCT	0.413000													27	213					6.32553e-13	9.8724e-13	0.004656	1	0
IL1F10	84639	broad.mit.edu	37	2	113832364	113832364	+	Silent	SNP	C	C	T	rs34320972	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:113832364C>T	ENST00000393197.2	+	3	604	c.183C>T	c.(181-183)atC>atT	p.I61I	IL1F10_ENST00000337569.3_Silent_p.I61I|IL1F10_ENST00000341010.2_Silent_p.I61I	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	61						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I61I(2)		endometrium(1)|lung(6)|ovary(1)	8						TCCTGGGGATCCAGGGAGGGA	0.582000													10	180					0	0	0.000978	0	0
PASD1	139135	broad.mit.edu	37	X	150840204	150840204	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:150840204C>G	ENST00000370357.4	+	13	1635	c.1390C>G	c.(1390-1392)Ctc>Gtc	p.L464V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	464						nucleus	signal transducer activity	p.L464V(4)|p.L464F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCAACTCTCTCAAAAACAC	0.463000													22	50					0	0	0.001882	0	0
CGNL1	84952	broad.mit.edu	37	15	57731244	57731244	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:57731244A>G	ENST00000281282.5	+	2	1125	c.1047A>G	c.(1045-1047)tcA>tcG	p.S349S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	349	Head.					myosin complex|tight junction	motor activity	p.S349S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ATACAGGATCAATTCCTGGTG	0.428000													14	68					0	0	0.002450	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													7	111					0	0	0.008291	0	0
TLN2	83660	broad.mit.edu	37	15	62993362	62993362	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:62993362C>G	ENST00000561311.1	+	16	1875	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q549E			Q9Y4G6	TLN2_HUMAN	talin 2	549					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.Q549E(2)		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						AATCCATTCTCAAGTTGATGC	0.473000													23	80					0	0	0.002780	0	0
AMOT	154796	broad.mit.edu	37	X	112024171	112024171	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:112024171T>A	ENST00000371959.3	-	9	2415	c.2416A>T	c.(2416-2418)Act>Tct	p.T806S	AMOT_ENST00000304758.1_Missense_Mutation_p.T397S|AMOT_ENST00000371958.1_Missense_Mutation_p.T574S|AMOT_ENST00000524145.1_Missense_Mutation_p.T806S|AMOT_ENST00000371962.1_Missense_Mutation_p.T574S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	806					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T806S(2)|p.T397S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGGGAGCCAGTCAGGGTGGAT	0.522000													64	142					0	0	0.003610	0	0
GFPT1	2673	broad.mit.edu	37	2	69556903	69556903	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:69556903C>A	ENST00000357308.4	-	16	1688	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	GFPT1_ENST00000361060.4_Missense_Mutation_p.V486L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	504	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.V486L(2)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCAAACATCACAAGGGATACA	0.398000													20	126					2.27731e-05	2.84193e-05	0.001882	1	0
ASXL3	80816	broad.mit.edu	37	18	31319721	31319721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:31319721G>T	ENST00000269197.5	+	11	2353	c.2353G>T	c.(2353-2355)Gag>Tag	p.E785*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	785	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.E785*(1)|p.E492*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGAAAGATGAGTCTTCCGC	0.458000													8	49					7.93312e-07	1.03267e-06	0.002450	1	0
SLC12A2	6558	broad.mit.edu	37	5	127516628	127516628	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:127516628T>A	ENST00000262461.2	+	23	3343	c.3154T>A	c.(3154-3156)Tgt>Agt	p.C1052S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.C1036S|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1052					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.C1052S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGAAAGACTGTAAGATCAG	0.328000													60	148					0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124345614	124345614	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:124345614G>C	ENST00000409039.3	+	38	6476	c.6451G>C	c.(6451-6453)Gaa>Caa	p.E2151Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2151	AAA 2 (By similarity).				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)		GAGTGTCATAGAACTCTACGG	0.493000													4	117					0	0	0.001168	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814500	106814500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:106814500G>C	ENST00000407775.2	+	8	2440	c.2190G>C	c.(2188-2190)caG>caC	p.Q730H	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q461H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q598H|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	730					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	p.Q730H(2)		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)			CTGCCATGCAGAGAACCATGC	0.522000													12	70					0	0	0.000978	0	0
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:135438316C>A	ENST00000394143.1	+	9	7210	c.6919C>A	c.(6919-6921)Cga>Aga	p.R2307R	GPR112_ENST00000370652.1_Silent_p.R2307R|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Silent_p.R2102R|GPR112_ENST00000394141.1_Silent_p.R2102R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2307R(3)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTCATGGATCGAGCTATTGT	0.343000													15	41					9.16793e-09	1.27005e-08	0.004990	1	0
FOPNL	123811	broad.mit.edu	37	16	15967411	15967411	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:15967411C>A	ENST00000255759.6	-	4	414	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000575744.1_Missense_Mutation_p.G63W|FOPNL_ENST00000575073.1_Intron|FOPNL_ENST00000573396.1_Intron|FOPNL_ENST00000573429.1_Missense_Mutation_p.G153W	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	129					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	p.G129W(2)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AGTGAAGGCCCTTTCAGAAAT	0.418000													26	123					4.87955e-14	7.83843e-14	0.005443	1	0
FANK1	92565	broad.mit.edu	37	10	127685120	127685120	+	Splice_Site	SNP	C	C	T	rs141545587		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:127685120C>T	ENST00000368695.1	+	5	504	c.380_splice	c.e5-1	p.R128_splice	FANK1_ENST00000368693.1_Splice_Site_p.R134_splice	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	134						cytoplasm|nucleus		p.R134C(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TTTCCCAAGCCGTGTTAAGGT	0.448000													44	271					0	0	0.003610	0	0
GDAP1	54332	broad.mit.edu	37	8	75275211	75275211	+	Missense_Mutation	SNP	A	A	G	rs146768052		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:75275211A>G	ENST00000220822.7	+	5	697	c.617A>G	c.(616-618)aAg>aGg	p.K206R	GDAP1_ENST00000434412.2_Missense_Mutation_p.K138R|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	206	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			AAGTATTTGAAGAAAATTCTT	0.308000													6	182					0	0	0.001984	0	0
FRZB	2487	broad.mit.edu	37	2	183723563	183723563	+	Splice_Site	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:183723563T>A	ENST00000295113.4	-	2	1088		c.e2-2			NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein						brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TAGGAAAATCTGAAAGGAGGT	0.348000													35	118					0	0	0.003271	0	0
VPS13B	157680	broad.mit.edu	37	8	100205158	100205158	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:100205158C>G	ENST00000395996.1	+	17	2499	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Silent_p.L796L|VPS13B_ENST00000357162.2_Silent_p.L796L|VPS13B_ENST00000355155.1_Silent_p.L796L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	796					protein transport			p.L796L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCAAATCTCACAATTCAAG	0.373000													5	172					0	0	0.000602	0	0
OR5L1	219437	broad.mit.edu	37	11	55579766	55579766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:55579766C>A	ENST00000333973.2	+	1	913	c.824C>A	c.(823-825)aCc>aAc	p.T275N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAAGTGGCCACCGTGTTCTAC	0.468000													24	79					2.98393e-07	3.94375e-07	0.002780	1	0
OR51L1	119682	broad.mit.edu	37	11	5020771	5020771	+	Missense_Mutation	SNP	C	C	A	rs150980273	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:5020771C>A	ENST00000321543.1	+	1	559	c.559C>A	c.(559-561)Cta>Ata	p.L187I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187I(2)		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)		CCAGGATGTTCTAAGATTATC	0.448000													33	172					5.91797e-21	1.04211e-20	0.002445	1	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													4	168					0	0	0.008291	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764850	138764850	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:138764850G>C	ENST00000242351.5	-	4	1153	c.837C>G	c.(835-837)atC>atG	p.I279M	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.I279M|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.I279M	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	279					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.I279M(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCCTGTGGCTGATCTGATCTG	0.582000													17	270					0	0	0.006122	0	0
NPAP1	23742	broad.mit.edu	37	15	24923924	24923924	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:24923924T>G	ENST00000329468.2	+	1	3384	c.2910T>G	c.(2908-2910)agT>agG	p.S970R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S970R(2)									ACAATGCAAGTGCTTTCCCCA	0.478000													16	94					0	0	0.004007	0	0
FAM83B	222584	broad.mit.edu	37	6	54805781	54805781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:54805781C>A	ENST00000306858.7	+	5	2128	c.2012C>A	c.(2011-2013)tCa>tAa	p.S671*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	671								p.S671*(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTGACAACTCAAAAGCCAAC	0.353000													12	98					6.40141e-05	7.90686e-05	0.000978	1	0
DROSHA	29102	broad.mit.edu	37	5	31526186	31526186	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:31526186C>A	ENST00000511367.2	-	4	1098	c.854_splice	c.e4+1	p.R285_splice	DROSHA_ENST00000442743.1_Splice_Site_p.R285_splice|DROSHA_ENST00000513349.1_Splice_Site_p.R285_splice|DROSHA_ENST00000344624.3_Splice_Site_p.R285_splice	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	285	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R285I(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGCGGTTTACCTGCTCCGTTC	0.527000													34	110					3.11337e-16	5.26745e-16	0.002836	1	0
CDH7	1005	broad.mit.edu	37	18	63547963	63547963	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:63547963C>A	ENST00000397968.2	+	12	2617	c.2191C>A	c.(2191-2193)Cag>Aag	p.Q731K	CDH7_ENST00000323011.3_Missense_Mutation_p.Q731K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	731					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q731K(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACTCCCTGCAGACATATGC	0.398000													32	145					1.39806e-14	2.27608e-14	0.008361	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:140346519G>A	ENST00000289269.5	+	1	700	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		56	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCGGCGCGCTCGTGGGCA	0.692000													5	10					0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	216251604	216251604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216251604C>G	ENST00000366943.2	-	27	5785	c.5399G>C	c.(5398-5400)tGg>tCg	p.W1800S	USH2A_ENST00000307340.3_Missense_Mutation_p.W1800S|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1800	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W1800S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTTTATTCCACTTTCCATT	0.433000										HNSCC(13;0.011)			160	517					0	0	0.003610	0	0
PTPN9	5780	broad.mit.edu	37	15	75766070	75766070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:75766070C>A	ENST00000306726.2	-	10	1680	c.1168G>T	c.(1168-1170)Gta>Tta	p.V390L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	390	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.V390L(2)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCCATACCATGAGCCAG	0.443000													35	213					1.90571e-15	3.17093e-15	0.004289	1	0
MYO1C	4641	broad.mit.edu	37	17	1385813	1385813	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:1385813T>A	ENST00000359786.5	-	5	910	c.586A>T	c.(586-588)Agc>Tgc	p.S196C	MYO1C_ENST00000575158.1_Missense_Mutation_p.S161C|MYO1C_ENST00000545534.2_Missense_Mutation_p.S172C|MYO1C_ENST00000361007.2_Missense_Mutation_p.S161C|MYO1C_ENST00000438665.2_Missense_Mutation_p.S177C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	196	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.S161C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGAACCTGCTGGAGTTATCG	0.562000													16	61					0	0	0.007413	0	0
ITGA8	8516	broad.mit.edu	37	10	15688991	15688991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:15688991G>T	ENST00000378076.3	-	12	1414	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	354					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P354H(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACTTCTCTGGGGTTGCTCTC	0.507000													22	112					3.62473e-10	5.33985e-10	0.001882	1	0
SLC6A5	9152	broad.mit.edu	37	11	20668466	20668466	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:20668466C>G	ENST00000525748.1	+	14	2329	c.2056C>G	c.(2056-2058)Cca>Gca	p.P686A	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	686					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P686A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTTGTAACCCCAACCATTTT	0.408000													12	118					0	0	0.002450	0	0
ACER2	340485	broad.mit.edu	37	9	19424744	19424744	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:19424744G>T	ENST00000340967.2	+	3	296	c.270G>T	c.(268-270)caG>caT	p.Q90H	ACER2_ENST00000380376.1_Missense_Mutation_p.Q41H	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	90					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.Q90H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTGGGTCAGATGCTTGATG	0.433000													30	172					1.7881e-09	2.53524e-09	0.008361	1	0
FATE1	89885	broad.mit.edu	37	X	150889897	150889897	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:150889897A>T	ENST00000370350.3	+	3	350	c.265A>T	c.(265-267)Aga>Tga	p.R89*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	89						endoplasmic reticulum|integral to membrane		p.R89*(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAATGCTGAGAGAATCAGG	0.542000													24	77					0	0	0.003954	0	0
CYYR1	116159	broad.mit.edu	37	21	27945230	27945230	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:27945230T>A	ENST00000299340.4	-	1	373	c.30A>T	c.(28-30)ccA>ccT	p.P10P	CYYR1_ENST00000400043.3_Silent_p.P10P|CYYR1_ENST00000435845.2_Silent_p.P118P	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	10						integral to membrane		p.P10P(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAAGACCCCTGGACGCACGG	0.667000													17	98					0	0	0.001523	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65508135	65508135	+	Splice_Site	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:65508135C>T	ENST00000355045.2	-	2	276		c.e2+1			NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.?(2)									CAGAGCCTTACCTCTCAGACT	0.542000													47	498					0	0	0.003610	0	0
FNDC1	84624	broad.mit.edu	37	6	159654335	159654335	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:159654335T>A	ENST00000297267.9	+	11	2991	c.2791T>A	c.(2791-2793)Tcc>Acc	p.S931T	FNDC1_ENST00000340366.6_Missense_Mutation_p.S868T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	931						extracellular region		p.S931T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAACCCCAAATCCACAGGGGC	0.612000													8	45					0	0	0.003080	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821725	129821725	+	RNA	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:129821725G>C	ENST00000500074.2	-	0	420																											CCCCGACCAGGGACACGATGG	0.597000													7	101					0	0	0.000978	0	0
DNAH1	25981	broad.mit.edu	37	3	52430796	52430796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:52430796G>A	ENST00000420323.2	+	72	11854	c.11593G>A	c.(11593-11595)Gat>Aat	p.D3865N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3930	AAA 6 (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	p.D3929N(2)|p.D3865N(2)		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)		GGACGAATATGATGACATCCC	0.582000													55	251					0	0	0.003610	0	0
C17orf66	256957	broad.mit.edu	37	17	34192287	34192287	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:34192287G>T	ENST00000311880.2	-	3	400	c.252C>A	c.(250-252)caC>caA	p.H84Q	C17orf66_ENST00000592980.1_Missense_Mutation_p.H84Q|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	84							binding	p.H84Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CATACAGGTCGTGCCAGTGCG	0.507000													7	75					0.000157383	0.000190119	0.003080	1	0
SLC5A4	6527	broad.mit.edu	37	22	32631037	32631037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:32631037G>T	ENST00000266086.4	-	8	719	c.708C>A	c.(706-708)taC>taA	p.Y236*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	236					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.Y236*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCATTCACGTACTTCTCGG	0.468000													50	307					4.86159e-25	8.84459e-25	0.003610	1	0
ITGAD	3681	broad.mit.edu	37	16	31424230	31424230	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31424230C>A	ENST00000389202.2	+	15	1828	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	593					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L593L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCAGGACCTCACCCAGGATG	0.652000													34	123					1.45844e-13	2.31206e-13	0.002836	1	0
OR1N1	138883	broad.mit.edu	37	9	125289132	125289132	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:125289132C>A	ENST00000304880.2	-	1	440	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147C(2)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGAGGACCCAGCACAATG	0.537000													13	82					3.27435e-08	4.46435e-08	0.002450	1	0
F13A1	2162	broad.mit.edu	37	6	6224933	6224933	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:6224933C>A	ENST00000264870.3	-	7	1224	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	320					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G320V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTTAAAGACACCAGCAAAAAC	0.418000													29	224					1.39806e-14	2.27608e-14	0.008361	1	0
GRID2	2895	broad.mit.edu	37	4	94436452	94436452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:94436452G>T	ENST00000282020.4	+	13	2341	c.2083G>T	c.(2083-2085)Gga>Tga	p.G695*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.G600*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	695					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G695*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CCGCATGAAAGGACTGAATCC	0.488000													15	110					7.93312e-07	1.03267e-06	0.002450	1	0
COL24A1	255631	broad.mit.edu	37	1	86488678	86488678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:86488678G>A	ENST00000370571.2	-	15	2428	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P688S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	688	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent	p.P688S(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGTCCCACAGGGCCAACACTG	0.368000													6	47					0	0	0.001984	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250954	142250954	+	RNA	SNP	G	G	T	rs361438		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:142250954G>T	ENST00000390360.3	-	0	113																											CTGCTGCCAGGATCTGAGATG	0.522000													23	126					1.10923e-09	1.58013e-09	0.002780	1	0
PTPRC	5788	broad.mit.edu	37	1	198668802	198668802	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:198668802C>T	ENST00000367376.2	+	5	573	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Silent_p.L136L|PTPRC_ENST00000352140.3_Silent_p.L134L|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	134					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L134L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGCAAAACTCAACCCTACCC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	360					0	0	0.008740	0	0
COL16A1	1307	broad.mit.edu	37	1	32163594	32163594	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:32163594G>T	ENST00000373672.3	-	6	1086	c.570C>A	c.(568-570)tcC>tcA	p.S190S	COL16A1_ENST00000373668.3_Silent_p.S190S|COL16A1_ENST00000271069.6_Silent_p.S190S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	190	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.S190S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GAGGCTGGGAGGAGGCTGAGC	0.617000													6	68					2.0095e-06	2.57694e-06	0.001984	1	0
GPRASP2	114928	broad.mit.edu	37	X	101972152	101972152	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:101972152G>A	ENST00000543253.1	+	5	3274	c.2355G>A	c.(2353-2355)caG>caA	p.Q785Q	GPRASP2_ENST00000332262.5_Silent_p.Q785Q|GPRASP2_ENST00000535209.1_Silent_p.Q785Q	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.Q785Q(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAATGTTTCAGAATATCAGTA	0.303000													26	130					0	0	0.003330	0	0
ITGA11	22801	broad.mit.edu	37	15	68631901	68631901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:68631901G>A	ENST00000423218.2	-	11	1308	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	ITGA11_ENST00000315757.7_Missense_Mutation_p.P405S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCGCGGAGAGGAATGACCTTC	0.607000													9	62					0	0	0.006214	0	0
HPS4	89781	broad.mit.edu	37	22	26860726	26860726	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:26860726T>A	ENST00000398145.2	-	11	1486	c.870A>T	c.(868-870)acA>acT	p.T290T	HPS4_ENST00000336873.5_Silent_p.T290T|HPS4_ENST00000398141.1_Silent_p.T303T|HPS4_ENST00000402105.3_Silent_p.T285T	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	290					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.T290T(2)|p.T303T(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAGGGCAGATGTGCTCCCAC	0.572000									Hermansky-Pudlak syndrome				16	113					0	0	0.003163	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139092	126139092	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:126139092A>T	ENST00000299308.3	+	9	3081	c.3073A>T	c.(3073-3075)Aag>Tag	p.K1025*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.K537*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1025						integral to membrane		p.K1025*(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAGAGAGTCAAGTTCACTTC	0.458000													32	86					0	0	0.002096	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885024	50885024	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:50885024C>T	ENST00000404795.3	-	3	1334	c.942G>A	c.(940-942)cgG>cgA	p.R314R	DMRTA2_ENST00000418121.1_Silent_p.R314R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	314	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R314R(2)		endometrium(1)|lung(4)|pancreas(1)	6						CCAGCGGCGTCCGCTGCCGTG	0.697000													9	36					0	0	0.004482	0	0
GMIP	51291	broad.mit.edu	37	19	19749278	19749278	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:19749278T>A	ENST00000203556.4	-	8	688	c.551A>T	c.(550-552)aAa>aTa	p.K184I	GMIP_ENST00000587238.1_Missense_Mutation_p.K184I|GMIP_ENST00000445806.2_Missense_Mutation_p.K184I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	184					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.K184I(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAGTCCGTTTGGCGGCGAG	0.592000													8	35					0	0	0.001368	0	0
DHX32	55760	broad.mit.edu	37	10	127569217	127569217	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:127569217T>A	ENST00000284690.3	-	1	667	c.177A>T	c.(175-177)agA>agT	p.R59S	DHX32_ENST00000284688.6_Missense_Mutation_p.R59S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	59						mitochondrion|nucleus	ATP binding|helicase activity	p.R59S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAAGATCTTCTCTTTCTTTCA	0.383000													21	128					0	0	0.001523	0	0
OR51D1	390038	broad.mit.edu	37	11	4661252	4661252	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:4661252A>G	ENST00000357605.2	+	1	308	c.232A>G	c.(232-234)Atg>Gtg	p.M78V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M78V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCCTGGCCATGCTTTCCAC	0.512000													13	102					0	0	0.003163	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95197502	95197502	+	Silent	SNP	G	G	T	rs111425618		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:95197502G>T	ENST00000354268.4	+	15	1894	c.1821G>T	c.(1819-1821)gcG>gcT	p.A607A	SMARCAD1_ENST00000457823.2_Silent_p.A607A|SMARCAD1_ENST00000509418.1_Silent_p.A177A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	607	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.A607A(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATAACTGTGCGATCAGCAGTT	0.368000													11	54					1.5842e-08	2.1896e-08	0.001855	1	0
TPX2	22974	broad.mit.edu	37	20	30388777	30388777	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:30388777A>G	ENST00000340513.4	+	19	2774	c.2246A>G	c.(2245-2247)cAt>cGt	p.H749R	TPX2_ENST00000300403.6_Missense_Mutation_p.H713R			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	713					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.H713R(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTGCAGGTGCATAAGGCAAAT	0.413000													141	298					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28483346	28483346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:28483346C>A	ENST00000261609.7	-	25	3874	c.3766G>T	c.(3766-3768)Gac>Tac	p.D1256Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1256	Cytochrome b5 heme-binding.				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	p.D1256Y(2)		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)		ACCACTGGGTCTTCCCCTGCA	0.458000													11	80					0.00010058	0.000122234	0.001368	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43796717	43796717	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:43796717T>C	ENST00000291532.3	-	11	2082	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.Y373C|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.Y460C|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.Y375C	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	376	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	p.Y376C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GATGCCACCGTACACGTCCCT	0.647000													21	242					0	0	0.002780	0	0
ASIC4	55515	broad.mit.edu	37	2	220397143	220397143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:220397143G>T	ENST00000358078.4	+	4	1357	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.R448L			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	448						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.R448L(2)									TGCCGGCTGCGCTGTGAAAAG	0.672000													11	61					0.000978159	0.00116072	0.000978	1	0
FAM86HP	729375	broad.mit.edu	37	3	129821754	129821754	+	RNA	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:129821754C>A	ENST00000500074.2	-	0	391																											CAATACAGCACGTCTACGGTG	0.587000													7	82					0.00829132	0.00963068	0.008291	1	0
SSX3	10214	broad.mit.edu	37	X	48209509	48209509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:48209509G>T	ENST00000298396.2	-	6	431	c.379C>A	c.(379-381)Cca>Aca	p.P127T	SSX3_ENST00000376893.3_Missense_Mutation_p.P127T|SSX3_ENST00000376895.1_Missense_Mutation_p.P39T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P127T(4)		endometrium(3)|large_intestine(1)|lung(9)	13						GATGCTTCTGGCACTTCCTTC	0.438000													84	214					2.16136e-38	4.04167e-38	0.003610	1	0
DUSP6	1848	broad.mit.edu	37	12	89743161	89743161	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:89743161T>A	ENST00000279488.7	-	3	2247	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	DUSP6_ENST00000308385.6_Missense_Mutation_p.Q193L|DUSP6_ENST00000547291.1_Missense_Mutation_p.Q214L	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	339	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Q339L(2)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GTCCAGCAGCTGACCCATGAA	0.478000													64	181					0	0	0.003610	0	0
BEST4	266675	broad.mit.edu	37	1	45253101	45253101	+	Nonsense_Mutation	SNP	G	G	A	rs138830699		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:45253101G>A	ENST00000372207.3	-	2	189	c.190C>T	c.(190-192)Cag>Tag	p.Q64*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	64						chloride channel complex|plasma membrane	chloride channel activity	p.Q64*(2)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CGGGCCACCTGAGCATACACG	0.587000													55	363					0	0	0.003610	0	0
OR2M5	127059	broad.mit.edu	37	1	248308701	248308701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:248308701C>A	ENST00000366476.1	+	1	252	c.252C>A	c.(250-252)aaC>aaA	p.N84K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N84K(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGGCCTTCAACTACTTGTCTG	0.493000													182	486					3.77185e-81	7.11936e-81	0.003610	1	0
MRC2	9902	broad.mit.edu	37	17	60754829	60754829	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:60754829A>T	ENST00000303375.5	+	12	2436	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	678	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K678N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGACACCAAACTCCGGTATT	0.662000													5	18					0	0	0.001984	0	0
LPL	4023	broad.mit.edu	37	8	19818481	19818481	+	Silent	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:19818481C>G	ENST00000311322.8	+	8	1679	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	403	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.L403L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GAGAACTACTCATGTTGAAGC	0.408000													18	94					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141130585	141130585	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:141130585C>A	ENST00000389484.3	-	69	11731	c.10760G>T	c.(10759-10761)tGt>tTt	p.C3587F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3587	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3587F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTGGCTCACAGCTTTTCTC	0.363000										TSP Lung(27;0.18)			23	216					9.39395e-14	1.50104e-13	0.006320	1	0
MYH2	4620	broad.mit.edu	37	17	10426485	10426485	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:10426485C>A	ENST00000245503.5	-	39	5979	c.5595G>T	c.(5593-5595)aaG>aaT	p.K1865N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.K1865N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1865					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1865N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGAATATTCTTTCTATCTT	0.333000													6	78					0.00307968	0.00362598	0.003080	1	0
COL6A3	1293	broad.mit.edu	37	2	238289824	238289824	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:238289824C>A	ENST00000295550.4	-	5	2083	c.1631G>T	c.(1630-1632)cGg>cTg	p.R544L	COL6A3_ENST00000392003.2_Missense_Mutation_p.R137L|COL6A3_ENST00000353578.4_Missense_Mutation_p.R338L|COL6A3_ENST00000472056.1_Missense_Mutation_p.R137L|COL6A3_ENST00000409809.1_Missense_Mutation_p.R338L|COL6A3_ENST00000392004.3_Missense_Mutation_p.R338L|COL6A3_ENST00000346358.4_Missense_Mutation_p.R544L|COL6A3_ENST00000347401.3_Missense_Mutation_p.R343L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	544	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R338L(2)|p.R544L(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGGCAGCCCGGTAGCCGGC	0.557000													33	195					6.00712e-18	1.0337e-17	0.002445	1	0
IMMT	10989	broad.mit.edu	37	2	86371798	86371798	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:86371798C>T	ENST00000410111.3	-	15	2257	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	IMMT_ENST00000409051.2_Missense_Mutation_p.G577R|IMMT_ENST00000449247.2_Missense_Mutation_p.G613R|IMMT_ENST00000442664.2_Missense_Mutation_p.G623R|IMMT_ENST00000254636.5_Missense_Mutation_p.G525R	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	624						integral to mitochondrial inner membrane	protein binding	p.G624R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTACACCCCACGGGTCAGG	0.498000													30	213					0	0	0.007291	0	0
ADCY2	108	broad.mit.edu	37	5	7698359	7698359	+	Splice_Site	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr5:7698359G>T	ENST00000338316.4	+	7	1070		c.e7-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.?(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATTCTTCCAGGAGAATGAAT	0.388000													72	254					4.29146e-36	8.00012e-36	0.003610	1	0
UGDH	7358	broad.mit.edu	37	4	39511522	39511522	+	Silent	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:39511522T>C	ENST00000316423.6	-	6	1011	c.669A>G	c.(667-669)gcA>gcG	p.A223A	UGDH_ENST00000506179.1_Silent_p.A223A|UGDH_ENST00000501493.2_Silent_p.A156A|UGDH_ENST00000507089.1_Silent_p.A126A	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	223	Substrate binding.				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.A223A(2)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	GAAAAGCATTTGCTGCCTTAA	0.363000													10	76					0	0	0.006214	0	0
UNC5C	8633	broad.mit.edu	37	4	96140295	96140295	+	Silent	SNP	G	G	T	rs145160489		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:96140295G>T	ENST00000453304.1	-	9	1818	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	UNC5C_ENST00000506749.1_Silent_p.P509P	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	490					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.P490P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGTCATCTTGGGGGGTGACAG	0.498000													67	310					5.52965e-18	9.54259e-18	0.003610	1	0
NUFIP2	57532	broad.mit.edu	37	17	27614038	27614038	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:27614038G>A	ENST00000225388.4	-	2	1032	c.974C>T	c.(973-975)tCa>tTa	p.S325L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	325						nucleus|polysomal ribosome	protein binding|RNA binding	p.S325L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GGCAACAGCTGAAGCATGCTT	0.443000													31	235					0	0	0.007291	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32265006	32265006	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:32265006C>A	ENST00000398664.3	+	1	967	c.332C>A	c.(331-333)cCt>cAt	p.P111H	TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.P111H	NM_001243722.1	NP_001230651.1			TP53 target 3D									p.P111H(4)									GGTCGGTGGCCTCTCACTGCC	0.587000													16	212					1.99824e-07	2.64679e-07	0.004990	1	0
ANK2	287	broad.mit.edu	37	4	114279402	114279402	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:114279402A>G	ENST00000357077.4	+	38	9681	c.9628A>G	c.(9628-9630)Act>Gct	p.T3210A	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T3177A|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3177					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3210A(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCAGCCTCCACTGAAACACC	0.483000													21	116					0	0	0.008871	0	0
HYDIN	54768	broad.mit.edu	37	16	70841870	70841870	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:70841870G>T	ENST00000393567.2	-	86	15129	c.14979C>A	c.(14977-14979)ccC>ccA	p.P4993P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4993								p.P4992P(2)|p.P4944P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGGTGGCTGGGCTCGAATA	0.557000													15	129					1.96292e-10	2.90589e-10	0.001523	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43992633	43992633	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:43992633C>T	ENST00000282406.4	+	30	4488	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1460						cytoplasm|cytoskeleton|integral to membrane	binding	p.P1460S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTCTCTGCTCCAGCACTGCT	0.502000													23	102					0	0	0.001882	0	0
FAT4	79633	broad.mit.edu	37	4	126328260	126328260	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:126328260G>T	ENST00000394329.3	+	3	5546	c.5533G>T	c.(5533-5535)Gtg>Ttg	p.V1845L	FAT4_ENST00000335110.5_Missense_Mutation_p.V143L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1845L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCAGACCCGTGTACTCTTT	0.408000													43	237					1.30916e-28	2.41815e-28	0.003610	1	0
SERPINB8	5271	broad.mit.edu	37	18	61654176	61654176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr18:61654176G>T	ENST00000397985.2	+	7	1045	c.789G>T	c.(787-789)aaG>aaT	p.K263N	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.K81N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K263N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	263					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.K263N(2)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAAAAGTAAGGTTCAAGTTT	0.378000													25	136					2.21704e-12	3.40735e-12	0.002780	1	0
SLC8A1	6546	broad.mit.edu	37	2	40657385	40657385	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:40657385G>T	ENST00000406785.1	-	2	225	c.36C>A	c.(34-36)acC>acA	p.T12T	SLC8A1_ENST00000403092.1_Silent_p.T12T|SLC8A1_ENST00000402441.1_Silent_p.T12T|SLC8A1_ENST00000332839.4_Silent_p.T12T|SLC8A1_ENST00000542756.1_Silent_p.T12T|SLC8A1_ENST00000542024.1_Silent_p.T12T|SLC8A1_ENST00000408028.2_Silent_p.T12T|SLC8A1_ENST00000406391.2_Silent_p.T12T|SLC8A1_ENST00000405901.3_Silent_p.T12T|SLC8A1_ENST00000405269.1_Silent_p.T12T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	12					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T12T(3)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCATTGAAAAGGTGGGTGAAA	0.408000													21	86					2.89027e-11	4.34259e-11	0.002299	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063015	48063015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:48063015G>A	ENST00000316364.5	+	19	2694	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	SEMA6D_ENST00000537942.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G690E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G690E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G696E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G752E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G709E|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G733E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G677E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	752					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.G690E(2)|p.G752E(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCACCCAATGGAGATACTAAA	0.483000													29	98					0	0	0.007291	0	0
LSP1	4046	broad.mit.edu	37	11	1905755	1905755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:1905755G>T	ENST00000406638.2	+	7	1777	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.D349Y|LSP1_ENST00000405957.2_Missense_Mutation_p.D159Y|LSP1_ENST00000311604.3_Missense_Mutation_p.D221Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	221					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.D159Y(2)|p.D221Y(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ATCCCAGCCAGACTTGCCCAT	0.562000													10	89					6.31663e-08	8.55436e-08	0.003163	1	0
FAM163A	148753	broad.mit.edu	37	1	179782940	179782940	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:179782940C>A	ENST00000341785.4	+	5	516	c.120C>A	c.(118-120)acC>acA	p.T40T		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	40						integral to membrane		p.T40T(2)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGAGCGGAACCGAGGTTGCAG	0.627000													18	109					2.4624e-09	3.46687e-09	0.008871	1	0
SERPINA6	866	broad.mit.edu	37	14	94776131	94776131	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:94776131C>A	ENST00000341584.3	-	3	972	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	276					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.V276F(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGCGATGACTGTGTTCATC	0.557000													23	182					1.9806e-07	2.6408e-07	0.002299	1	0
MYH6	4624	broad.mit.edu	37	14	23853903	23853903	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:23853903C>T	ENST00000405093.3	-	36	5383	c.5313G>A	c.(5311-5313)ctG>ctA	p.L1771L	MYH6_ENST00000356287.3_Silent_p.L1771L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1771					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.L1771L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTCCTTCTTCAGCTCCTCTG	0.622000													23	199					0	0	0.003954	0	0
CHRM3	1131	broad.mit.edu	37	1	240072343	240072343	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:240072343G>C	ENST00000255380.4	+	5	2371	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGGGCTACTGGCTGTGCTAC	0.488000													47	130					0	0	0.003610	0	0
MYT1	4661	broad.mit.edu	37	20	62839147	62839147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr20:62839147G>T	ENST00000536311.1	+	7	962	c.598G>T	c.(598-600)Gag>Tag	p.E200*	MYT1_ENST00000328439.1_Nonsense_Mutation_p.E200*|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	200	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E200*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTGCTTCAGGAGGCTGCAGA	0.607000													12	87					0.000978159	0.00116072	0.000978	1	0
MUC16	94025	broad.mit.edu	37	19	9075971	9075971	+	Silent	SNP	T	T	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:9075971T>G	ENST00000397910.4	-	3	11678	c.11475A>C	c.(11473-11475)ccA>ccC	p.P3825P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3826	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3825P(4)		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						GCACCTGCCCTGGATGTGCAG	0.507000													57	295					0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154684104	154684104	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:154684104T>A	ENST00000404039.1	+	26	2907	c.2320T>A	c.(2320-2322)Tcc>Acc	p.S774T	DPP6_ENST00000427557.1_Missense_Mutation_p.S731T|DPP6_ENST00000377770.3_Missense_Mutation_p.S838T|DPP6_ENST00000332007.3_Missense_Mutation_p.S776T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	838					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S838T(2)|p.S774T(2)|p.S776T(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGTACCGGTCCATCATCAA	0.507000													18	167					0	0	0.007413	0	0
RGS20	8601	broad.mit.edu	37	8	54859271	54859271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:54859271C>A	ENST00000297313.3	+	4	798	c.706C>A	c.(706-708)Cac>Aac	p.H236N	RGS20_ENST00000344277.6_Missense_Mutation_p.H121N|RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.H89N	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	236					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.H236N(2)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AATAGCTTCCCACGAACTCAG	0.408000													6	96					0.00116845	0.00138381	0.001168	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110477365G>T	ENST00000378402.5	+	49	8408	c.8304G>T	c.(8302-8304)ggG>ggT	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			21	183					7.88262e-20	1.37208e-19	0.003330	1	0
MMP16	4325	broad.mit.edu	37	8	89131071	89131071	+	Silent	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:89131071T>A	ENST00000286614.6	-	5	1010	c.729A>T	c.(727-729)gtA>gtT	p.V243V	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	243					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.V243V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATGGACTGCTACAAGAAATA	0.378000													8	96					0	0	0.003080	0	0
CHRM3	1131	broad.mit.edu	37	1	240072344	240072344	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:240072344G>T	ENST00000255380.4	+	5	2372	c.1593G>T	c.(1591-1593)tgG>tgT	p.W531C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	531					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.W531S(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGGCTACTGGCTGTGCTACA	0.483000													49	129					8.04919e-23	1.43838e-22	0.003610	1	0
DHRSX	207063	broad.mit.edu	37	X	2209645	2209645	+	Splice_Site	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:2209645C>A	ENST00000334651.5	-	4	339		c.e4-1			NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked								binding|oxidoreductase activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAAAATTCCACTGGAAAAGGA	0.378000													23	182					6.44725e-10	9.42891e-10	0.002299	1	0
TRIM69	140691	broad.mit.edu	37	15	45059966	45059966	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:45059966A>T	ENST00000558173.1	+	5	5632	c.887A>T	c.(886-888)cAg>cTg	p.Q296L	TRIM69_ENST00000559390.1_Missense_Mutation_p.Q500L|TRIM69_ENST00000338264.4_Missense_Mutation_p.Q341L|TRIM69_ENST00000560442.1_Missense_Mutation_p.Q296L|TRIM69_ENST00000329464.4_Missense_Mutation_p.Q500L|TRIM69_ENST00000558329.1_Missense_Mutation_p.Q279L|TRIM69_ENST00000561043.1_Missense_Mutation_p.Q263L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	500					apoptosis	nuclear speck	zinc ion binding	p.Q500L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTACATCCACAGTAATGAGTC	0.358000													26	77					0	0	0.003954	0	0
ESD	2098	broad.mit.edu	37	13	47354087	47354087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:47354087C>A	ENST00000378720.3	-	8	765	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	ESD_ENST00000378697.1_Missense_Mutation_p.D166Y	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	195						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	p.D195Y(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TTACTTTGATCTGTTCCCAAA	0.373000													27	112					4.74835e-14	7.66847e-14	0.002096	1	0
SPTA1	6708	broad.mit.edu	37	1	158583603	158583603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:158583603G>T	ENST00000368148.3	-	50	7077	c.6897C>A	c.(6895-6897)tgC>tgA	p.C2299*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.C2296*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2299	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.C2299*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCCTCTCAGGCAGGACCGGA	0.438000													13	121					1.36491e-13	2.16949e-13	0.001855	1	0
SPOCK3	50859	broad.mit.edu	37	4	167713350	167713350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:167713350G>T	ENST00000357154.3	-	8	826	c.689C>A	c.(688-690)aCa>aAa	p.T230K	SPOCK3_ENST00000511269.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T227K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T132K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.T227K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T110K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T179K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T230K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T134K|SPOCK3_ENST00000510741.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	230					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.T227K(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAATGTTTTTGTCTTCTTGTT	0.403000													18	77					1.67942e-08	2.31063e-08	0.006122	1	0
TAF1L	138474	broad.mit.edu	37	9	32632534	32632534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr9:32632534C>T	ENST00000242310.4	-	1	3133	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1015					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1015H(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAGGCGACGAAGGTCTGC	0.448000													87	410					0	0	0.003610	0	0
CNTN3	5067	broad.mit.edu	37	3	74315674	74315674	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:74315674C>G	ENST00000263665.6	-	21	2971	c.2944G>C	c.(2944-2946)Gat>Cat	p.D982H	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	982	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D982H(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGTCCCATCCCCTCCATCT	0.408000													58	352					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168102029	168102029	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:168102029A>T	ENST00000409195.1	+	9	4216	c.4127A>T	c.(4126-4128)cAa>cTa	p.Q1376L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1154L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1376L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1201					actin cytoskeleton organization	cell junction	actin binding	p.Q1376L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGTCACACAAGAAGACATT	0.363000													19	107					0	0	0.006122	0	0
USH2A	7399	broad.mit.edu	37	1	216372980	216372980	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216372980G>A	ENST00000366943.2	-	17	4186	c.3800C>T	c.(3799-3801)gCg>gTg	p.A1267V	USH2A_ENST00000307340.3_Missense_Mutation_p.A1267V|USH2A_ENST00000366942.3_Missense_Mutation_p.A1267V|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1267	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A1267V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTAGTTCCGCTGGTGGAGA	0.428000										HNSCC(13;0.011)			25	154					0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	9057909	9057909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:9057909G>C	ENST00000397910.4	-	3	29740	c.29537C>G	c.(29536-29538)aCc>aGc	p.T9846S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T9846S(2)|p.T5479S(2)		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						CACAGCGGAGGTGATACCCAT	0.483000													20	166					0	0	0.004656	0	0
LOC150776	150776	broad.mit.edu	37	2	132273932	132273932	+	RNA	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:132273932G>T	ENST00000438378.2	+	0	1426					NR_026922.1																						ACCTCTTCTTGGAGCATTGCT	0.612000													5	35					1.23904e-05	1.55266e-05	0.000602	1	0
LCE3E	353145	broad.mit.edu	37	1	152538599	152538599	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:152538599C>A	ENST00000368789.1	-	2	141	c.86G>T	c.(85-87)tGt>tTt	p.C29F		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	29					keratinization			p.C29F(2)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGAGGCAGACACTGTACTGG	0.632000													46	157					6.68952e-21	1.17115e-20	0.003214	1	0
AQP10	89872	broad.mit.edu	37	1	154296762	154296762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:154296762G>A	ENST00000324978.3	+	6	752	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	238					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.G238S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGCAGTGCTGGTAATGGCTG	0.602000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	57					0	0	0.002096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439382	110439382	+	Silent	SNP	A	A	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110439382A>G	ENST00000378402.5	+	25	3101	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	999					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L1001L(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGAATCTTCTACAGGTTCCCT	0.458000										HNSCC(38;0.096)			18	75					0	0	0.006122	0	0
PTK2	5747	broad.mit.edu	37	8	141712746	141712746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:141712746G>A	ENST00000522684.1	-	25	2519	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	PTK2_ENST00000430260.2_Nonsense_Mutation_p.Q74*|PTK2_ENST00000519465.1_Nonsense_Mutation_p.Q392*|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Nonsense_Mutation_p.Q432*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q764*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q764*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q808*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q764*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	764	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.Q716*(2)|p.Q786*(2)|p.Q764*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGAGATGCCTGACCTGGATAG	0.478000													21	151					0	0	0.002780	0	0
FGF5	2250	broad.mit.edu	37	4	81207742	81207742	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:81207742C>G	ENST00000312465.7	+	3	949	c.723C>G	c.(721-723)agC>agG	p.S241R	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	241					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.S241R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCCACCTAGCCCTATCAAGC	0.443000													15	120					0	0	0.002450	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605176	142605176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:142605176C>G	ENST00000370503.2	-	1	127	c.44G>C	c.(43-45)aGc>aCc	p.S15T		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	15								p.S15T(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCACAGGGGCTCTTCGTCTT	0.468000													50	139					0	0	0.003610	0	0
HBD	3045	broad.mit.edu	37	11	5254211	5254211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:5254211C>A	ENST00000380299.3	-	3	641	c.427G>T	c.(427-429)Gct>Tct	p.A143S	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	143			A -> D (in Fitzroy).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A143S(2)|p.A143P(1)		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)		TACTTGTGAGCCAGGGCATTA	0.493000													14	141					1.3612e-06	1.75677e-06	0.003163	1	0
ZNF780A	284323	broad.mit.edu	37	19	40587734	40587734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:40587734C>A	ENST00000450241.2	-	5	433	c.122G>T	c.(121-123)cGg>cTg	p.R41L	ZNF780A_ENST00000594395.1_Missense_Mutation_p.R76L|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R76L|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R75L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R75L|ZNF780A_ENST00000414720.2_Missense_Mutation_p.R91L			O75290	Z780A_HUMAN	zinc finger protein 780A	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCTGGATACCGTCTGCTTGT	0.443000													14	116					3.99206e-14	6.48173e-14	0.007413	1	0
ITGAD	3681	broad.mit.edu	37	16	31429491	31429491	+	Silent	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:31429491C>A	ENST00000389202.2	+	21	2644	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	865					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P865P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCAACCACCCCATCTTCCATG	0.572000													34	204					1.54707e-10	2.29589e-10	0.003610	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110396316	110396316	+	Silent	SNP	C	C	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110396316C>T	ENST00000378402.5	+	5	539	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	145					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T145T(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTTAGAACCCCAACAATAA	0.284000										HNSCC(38;0.096)			17	179					0	0	0.001523	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441505	44441505	+	Silent	SNP	G	G	T	rs148642401		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:44441505G>T	ENST00000291547.5	+	8	1024	c.813G>T	c.(811-813)acG>acT	p.T271T	PKNOX1_ENST00000432907.2_Silent_p.T154T	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	271							sequence-specific DNA binding	p.T271T(2)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGCATGCCACGAACGTGATGC	0.527000													19	112					1.28384e-07	1.71938e-07	0.001882	1	0
NUDCD1	84955	broad.mit.edu	37	8	110334668	110334668	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:110334668T>C	ENST00000239690.4	-	2	517	c.143A>G	c.(142-144)gAt>gGt	p.D48G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D19G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	48								p.D48G(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATATTGATCATCTCGAAGTTT	0.368000													9	100					0	0	0.008291	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			10	41					2.32078e-09	3.27513e-09	0.003163	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267765	103267765	+	Silent	SNP	G	G	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:103267765G>A	ENST00000217926.5	-	1	494	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	156					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.S156S(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCGTGCCTTCGGACTCGGCGA	0.662000													30	49					0	0	0.001786	0	0
SYNE3	161176	broad.mit.edu	37	14	95910860	95910860	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:95910860C>A	ENST00000334258.5	-	9	1752	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	SYNE3_ENST00000557275.1_Missense_Mutation_p.D580Y|SYNE3_ENST00000554873.1_Missense_Mutation_p.D337Y|SYNE3_ENST00000553340.1_Missense_Mutation_p.D580Y	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.D580Y(6)		breast(1)|endometrium(2)|lung(25)	28						CCAGGAAGGTCCCGCTGAAGC	0.602000													14	78					2.31682e-05	2.87934e-05	0.003163	1	0
USH2A	7399	broad.mit.edu	37	1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216251649G>C	ENST00000366943.2	-	27	5740	c.5354C>G	c.(5353-5355)aCa>aGa	p.T1785R	USH2A_ENST00000307340.3_Missense_Mutation_p.T1785R|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1785	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353000										HNSCC(13;0.011)			85	720					0	0	0.003610	0	0
MARS	4141	broad.mit.edu	37	12	57909809	57909809	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:57909809A>C	ENST00000315473.5	+	18	2447	c.1796A>C	c.(1795-1797)aAc>aCc	p.N599T	MARS_ENST00000262027.5_Intron			P56192	SYMC_HUMAN	methionyl-tRNA synthetase	0					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCGCTCCACAACAGCCACAGC	0.488000													15	65					0	0	0.004289	0	0
ABCG1	9619	broad.mit.edu	37	21	43706025	43706025	+	Silent	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr21:43706025G>T	ENST00000398437.1	+	9	1480	c.1332G>T	c.(1330-1332)cgG>cgT	p.R444R	ABCG1_ENST00000361802.2_Silent_p.R298R|ABCG1_ENST00000347800.2_Silent_p.R295R|ABCG1_ENST00000343687.3_Silent_p.R309R|ABCG1_ENST00000340588.4_Silent_p.R406R|ABCG1_ENST00000398449.3_Silent_p.R298R|ABCG1_ENST00000398457.2_Silent_p.R300R|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	298	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R298R(2)|p.R300R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTGTGTACCGGGGAAAAGTCT	0.517000													48	320					7.77372e-23	1.39327e-22	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	114111142	114111142	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:114111142T>A	ENST00000297405.5	-	5	1004	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S254C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S214C|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S254C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	254	CUB 2.					integral to membrane|plasma membrane		p.S214C(2)|p.S254C(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACTAGGGCTGGATATGATG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	125					0	0	0.001855	0	0
CASP4	837	broad.mit.edu	37	11	104819384	104819384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:104819384C>A	ENST00000444739.2	-	6	1711	c.801G>T	c.(799-801)tgG>tgT	p.W267C	CASP4_ENST00000393150.3_Missense_Mutation_p.W211C	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	267					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.W267C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGTCTCTGACCCACAGTTCCC	0.498000													11	75					4.36969e-10	6.42164e-10	0.001855	1	0
USPL1	10208	broad.mit.edu	37	13	31205085	31205085	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:31205085G>T	ENST00000255304.4	+	4	684	c.342G>T	c.(340-342)aaG>aaT	p.K114N	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	114					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.K114N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCAGCTATAAGGATTCACTTC	0.353000													18	85					1.99824e-07	2.64679e-07	0.004990	1	0
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													7	572	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	CCGGGA	-	rs1134580		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:26608878_26608883delCCGGGA	ENST00000314675.7	-	11	1189_1194	c.1110_1115delTCCCGG	c.(1108-1116)ggc>gg	p.GPG370del	UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	490						cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718													4	6	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													7	195	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604													7	355	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													10	486	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													7	250	---	---	---	---					
COL24A1	255631	broad.mit.edu	37	1	86375647	86375647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:86375647delC	ENST00000370571.2	-	26	3022	c.2656delG	c.(2656-2658)aafs	p.E886fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.E886fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	886	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACACCTTTTTCTCCCTGCGGA	0.413													70	456	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86921042	86921043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:86921042_86921043insC	ENST00000370565.4	+	14	2826_2827	c.2664_2665insC	c.(2662-2667)atccccfs	p.IP888fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	888					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTCTGTTTATTCCCCCCAATTC	0.396													15	284	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													8	180	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													18	490	---	---	---	---					
NTNG1	22854	broad.mit.edu	37	1	107866959	107866960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:107866959_107866960insC	ENST00000370067.1	+	3	929_930	c.302_303insC	c.(301-303)cccfs	p.P101fs	NTNG1_ENST00000370066.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370061.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370068.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370070.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370074.4_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370071.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000542803.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370072.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370065.1_Frame_Shift_Ins_p.P101fs			Q9Y2I2	NTNG1_HUMAN	netrin G1	101	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGCTGGCACACCCCCCTGAGC	0.485													8	517	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													21	500	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													18	380	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													11	872	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150933381	150933382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:150933381_150933382insC	ENST00000271640.5	+	16	3033_3034	c.2843_2844insC	c.(2842-2844)cccfs	p.P948fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	948	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGACTCCCACCCCCCAGATC	0.574													7	251	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													11	275	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				7	282	---	---	---	---					
GON4L	54856	broad.mit.edu	37	1	155783535	155783536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:155783535_155783536insC	ENST00000437809.1	-	10	1463_1464	c.1341_1342insG	c.(1339-1344)ggccccfs	p.GP447fs	GON4L_ENST00000271883.5_Frame_Shift_Ins_p.GP447fs|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.GP447fs|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.GP447fs			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	447					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGGGGCGGGGGCCCCATGGGCA	0.525													7	75	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156642803	156642804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:156642803_156642804insG	ENST00000368223.3	-	4	1308_1309	c.1176_1177insC	c.(1174-1179)cccaccfs	p.T393fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	393	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594													7	91	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156815066	156815066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:156815066delC	ENST00000368195.3	-	12	2635	c.2239delG	c.(2239-2241)cafs	p.A748fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	748					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCAGCTGCCCGGCGGTGC	0.697													7	26	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													16	1039	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(283-288)ttggggfs	p.LG95fs	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604													9	568	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													7	533	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													8	360	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													8	204	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)gctfs	p.A252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.540													8	284	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216595290	216595290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216595290delC	ENST00000366943.2	-	2	775	c.389delG	c.(388-390)gafs	p.G130fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.G130fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.G130fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	130					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGTGATTTCCAAAAATAAA	0.438										HNSCC(13;0.011)			16	133	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(391-396)aaccccfs	p.NP131fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624													10	238	---	---	---	---					
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcfs	p.A170fs	ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													8	215	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													11	631	---	---	---	---					
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:68691369_68691370insC	ENST00000377957.2	-	4	846_847	c.439_440insG	c.(439-441)aatfs	p.N147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386													7	436	---	---	---	---					
BMP10	27302	broad.mit.edu	37	2	69093407	69093407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:69093407delG	ENST00000295379.1	-	2	789	c.631delC	c.(631-633)aafs	p.Q211fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	211					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCTGACTTTTGCCAACGTCTG	0.502													37	230	---	---	---	---					
SPR	6697	broad.mit.edu	37	2	73115540	73115540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:73115540delG	ENST00000234454.5	+	2	475	c.402delG	c.(400-402)ctfs	p.L134fs	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	134					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGCTCTGCCTGACTTCCAGCG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	139	---	---	---	---					
IL18RAP	8807	broad.mit.edu	37	2	103059756	103059756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:103059756delG	ENST00000264260.2	+	8	1482	c.893delG	c.(892-894)tgfs	p.W298fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.W156fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	298	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCTAGAGTGGGAAGTCTCA	0.398													15	164	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													9	350	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													9	266	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													14	198	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													16	838	---	---	---	---					
CRYGA	1418	broad.mit.edu	37	2	209025576	209025577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:209025576_209025577insC	ENST00000304502.4	-	3	495_496	c.476_477insG	c.(475-477)ggcfs	p.G159fs		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TGGCATCTGCACCCCCCCAGTC	0.530													12	150	---	---	---	---					
SPAG16	79582	broad.mit.edu	37	2	214794857	214794857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:214794857delG	ENST00000331683.5	+	12	1483	c.1388delG	c.(1387-1389)tgfs	p.W463fs	SPAG16_ENST00000374309.3_Frame_Shift_Del_p.W369fs	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	463					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGCAAAATTTGGGATGTTAAT	0.408													25	259	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													10	171	---	---	---	---					
DIS3L2	129563	broad.mit.edu	37	2	233128030	233128031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:233128030_233128031insC	ENST00000325385.7	+	13	1815_1816	c.1539_1540insC	c.(1537-1542)ctccccfs	p.LP513fs	DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.LP513fs|DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.LP513fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	513							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGAAAGAGCTGCCCCCCATTTC	0.559													7	338	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													11	355	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													7	181	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													15	395	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	46	---	---	---	---					
DCLK3	85443	broad.mit.edu	37	3	36759598	36759599	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:36759598_36759599insG	ENST00000416516.2	-	4	2145_2146	c.1655_1656insC	c.(1654-1656)cttfs	p.L552fs	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	552	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTGCGGAATGGGGGAAAGCC	0.554													7	829	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	503	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													8	158	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													8	498	---	---	---	---					
SLC15A2	6565	broad.mit.edu	37	3	121643200	121643201	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:121643200_121643201insT	ENST00000489711.1	+	12	1393_1394	c.1005_1006insT	c.(1003-1008)ggttttfs	p.GF335fs	SLC15A2_ENST00000295605.2_Frame_Shift_Ins_p.GF304fs	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	335					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTTTCAGGGGTTTTTTGTGCT	0.371													7	602	---	---	---	---					
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)ggafs	p.G604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	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						TAGGGCCTCCCGGGGGGGCAGT	0.465													10	119	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													8	819	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													7	556	---	---	---	---					
TNFSF10	8743	broad.mit.edu	37	3	172241148	172241149	+	Frame_Shift_Ins	INS	-	-	C	rs138912628		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr3:172241148_172241149insC	ENST00000241261.2	-	1	148_149	c.26_27insG	c.(25-27)gccfs	p.A9fs	TNFSF10_ENST00000420541.2_Frame_Shift_Ins_p.A9fs	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	9					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCAGGCTGGGTCCCCCCTGGAC	0.535													7	488	---	---	---	---					
APBB2	323	broad.mit.edu	37	4	41015705	41015706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:41015705_41015706insG	ENST00000295974.8	-	6	1358_1359	c.729_730insC	c.(727-732)acactgfs	p.L244fs	APBB2_ENST00000506352.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000513140.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000508593.1_Frame_Shift_Ins_p.L244fs	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	244					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTGCACAGTCGGTTTTGGCCC	0.579													8	951	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													7	968	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													7	475	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													9	629	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187518096	187518096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:187518096delC	ENST00000441802.2	-	25	12807	c.12598delG	c.(12598-12600)ttfs	p.V4200fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4200					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGCAGAGAACAAACACCACC	0.483										HNSCC(5;0.00058)			20	169	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589													7	254	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													20	1205	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													8	129	---	---	---	---					
C9	735	broad.mit.edu	37	5	39341300	39341301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:39341300_39341301insG	ENST00000263408.4	-	4	518_519	c.423_424insC	c.(421-426)ccgcagfs	p.Q142fs	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	142	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.C142R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTGTCTCTGCAGGGGGGACGGG	0.460													7	694	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													8	298	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													7	213	---	---	---	---					
EPB41L4A	64097	broad.mit.edu	37	5	111519753	111519754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:111519753_111519754insT	ENST00000261486.5	-	18	1857_1858	c.1581_1582insA	c.(1579-1584)caccgafs	p.HR527fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	527						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGGGGTCGGCTTGGTTTTTTT	0.431													7	374	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													10	417	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	1114	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132534946	132534947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:132534946_132534947insC	ENST00000265342.7	-	16	2618_2619	c.2369_2370insG	c.(2368-2370)gacfs	p.D790fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	790						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTGGGTACCCCCCCAGGG	0.599													8	99	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													8	227	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													10	489	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													12	263	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													7	995	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	150	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													13	235	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													10	1420	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30040951	30040952	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:30040951_30040952insT	ENST00000244360.6	-	3	761_762	c.664_665insA	c.(664-666)gctfs	p.A222fs	RNF39_ENST00000376751.3_Frame_Shift_Ins_p.A222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY.					cytoplasm	zinc ion binding										TCTATGAAGCATTTTTTTGACC	0.411													9	997	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30571291	30571292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:30571291_30571292insC	ENST00000376511.2	-	16	2276_2277	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	575	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCCTCCTCCTCCAGGGCCTTG	0.579													15	480	---	---	---	---					
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)ccatgtfs	p.C345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564													7	313	---	---	---	---					
HLA-DMA	3108	broad.mit.edu	37	6	32917122	32917123	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:32917122_32917123insC	ENST00000374843.4	-	4	791_792	c.706_707insG	c.(706-708)cttfs	p.L236fs	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Frame_Shift_Ins_p.L202fs|HLA-DMA_ENST00000395305.3_Frame_Shift_Ins_p.L141fs|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	236						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						CAGGCCAAAGGCCACGCCACAC	0.589													18	82	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													42	154	---	---	---	---					
SH3BGRL2	83699	broad.mit.edu	37	6	80383443	80383444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:80383443_80383444insC	ENST00000369838.4	+	2	337_338	c.158_159insC	c.(157-159)gccfs	p.A53fs		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	53						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TACAAAAACGTCCCCCCGGAAA	0.470													7	471	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													14	772	---	---	---	---					
IPCEF1	26034	broad.mit.edu	37	6	154481012	154481013	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr6:154481012_154481013insG	ENST00000265198.4	-	12	1419_1420	c.1264_1265insC	c.(1264-1266)ggafs	p.G422fs	IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.G423fs|IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.G394fs|IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.G423fs|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CTTGAGTTCCTGGGGGGTGTCA	0.460													8	263	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													8	282	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								8	299	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92765125	92765125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:92765125delC	ENST00000318238.4	-	5	1376	c.160delG	c.(160-162)acfs	p.D54fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.D54fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.D54fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	54	SAM.							p.D54N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTACAAGGTCCTTCTCAGTT	0.398													100	477	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													8	554	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													9	178	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													10	126	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													14	284	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664918	124664919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:124664918_124664919insG	ENST00000325995.7	-	1	271_272	c.248_249insC	c.(247-249)cacfs	p.H83fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	83	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCCAGGGTTGGGGGGTCAAT	0.579													7	516	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													8	177	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:14848680_14848681insG	ENST00000380881.4	-	8	2061_2062	c.1246_1247insC	c.(1246-1248)tgtfs	p.C416fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					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)		CCAGGATACACGGGGGGCATTT	0.426													8	205	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2500-2505)taccccfs	p.YP834fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	834										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.540													7	1591	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													11	209	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													11	247	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													7	388	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													7	313	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								11	453	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													11	289	---	---	---	---					
EPC1	80314	broad.mit.edu	37	10	32575872	32575873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:32575872_32575873insG	ENST00000319778.6	-	8	1525_1526	c.1223_1224insC	c.(1222-1224)gggfs	p.G408fs	EPC1_ENST00000375110.2_Frame_Shift_Ins_p.G358fs|EPC1_ENST00000263062.8_Frame_Shift_Ins_p.G408fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	408					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ACTGACAGCCTGCTTTCCTACG	0.337													7	89	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								8	443	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													8	193	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95169429	95169430	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:95169429_95169430insT	ENST00000371501.4	-	6	622_623	c.500_501insA	c.(499-501)aggfs	p.R167fs	MYOF_ENST00000358334.5_Frame_Shift_Ins_p.R167fs|MYOF_ENST00000371489.1_Frame_Shift_Ins_p.R167fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.R167fs|MYOF_ENST00000359263.4_Frame_Shift_Ins_p.R167fs			Q9NZM1	MYOF_HUMAN	myoferlin	167					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAACTGGCCCCTTGGGCCCAGG	0.540													12	764	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95169434	95169435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:95169434_95169435insC	ENST00000371501.4	-	6	617_618	c.495_496insG	c.(493-498)ggccaafs	p.Q166fs	MYOF_ENST00000358334.5_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000371489.1_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000359263.4_Frame_Shift_Ins_p.Q166fs			Q9NZM1	MYOF_HUMAN	myoferlin	166					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCCCTTGGGCCCAGGGCCCC	0.535													52	705	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103899482	103899482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:103899482delC	ENST00000278070.2	+	5	1256	c.1217delC	c.(1216-1218)acfs	p.T406fs	PPRC1_ENST00000413464.2_Frame_Shift_Del_p.T406fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCAAGGTAACCCTCTGCTCT	0.572													33	206	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				10	130	---	---	---	---					
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:47074000_47074001insC	ENST00000395460.2	+	3	249_250	c.211_212insC	c.(211-213)cccfs	p.P71fs	C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441													9	398	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													9	342	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	592	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													7	131	---	---	---	---					
NRXN2	9379	broad.mit.edu	37	11	64375285	64375286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:64375285_64375286insG	ENST00000265459.6	-	23	4982_4983	c.4521_4522insC	c.(4519-4524)cccggafs	p.G1508fs	NRXN2_ENST00000377559.3_Frame_Shift_Ins_p.G1438fs|NRXN2_ENST00000377551.1_Frame_Shift_Ins_p.G1508fs|NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.G1501fs|NRXN2_ENST00000301894.2_Frame_Shift_Ins_p.G462fs	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					cell adhesion	integral to membrane	metal ion binding	p.T1508fs*82(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCGTCGTCCGTGGGGGGGAGGC	0.693													3	3	---	---	---	---					
INPPL1	3636	broad.mit.edu	37	11	71948208	71948209	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:71948208_71948209insC	ENST00000541756.1	+	26	3124_3125	c.2194_2195insC	c.(2194-2196)cccfs	p.P732fs	INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.P732fs|INPPL1_ENST00000298229.2_Frame_Shift_Ins_p.P974fs			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	974					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACCC	0.634													12	202	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													18	1284	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													11	187	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gccfs	p.A499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML								13	526	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													11	198	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													7	272	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)ccccacfs	p.H1529fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465													9	664	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													17	1330	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													7	320	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49440430	49440431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:49440430_49440431insG	ENST00000301067.7	-	15	4378_4379	c.4379_4380insC	c.(4378-4380)cctfs	p.P1460fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGGTGAGCAGTGGGGGGTCCAG	0.564													8	265	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49724676	49724677	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:49724676_49724677insC	ENST00000551245.1	+	13	2159_2160	c.2048_2049insC	c.(2047-2049)accfs	p.T683fs	TROAP_ENST00000257909.3_Frame_Shift_Ins_p.T683fs|TROAP_ENST00000547923.1_Frame_Shift_Ins_p.T362fs			Q12815	TROAP_HUMAN	trophinin associated protein	683	Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTTTGTGCCAGCCCCCCTATCT	0.569													10	298	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													8	637	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													7	1460	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58023681	58023682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:58023681_58023682insC	ENST00000550764.1	-	6	1396_1397	c.965_966insG	c.(964-966)gccfs	p.A322fs	B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000341156.4_Intron|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A322fs	NM_001276469.1	NP_001263398.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	0					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTTCCTGGGGCCCCCCACAGT	0.545													2	4	---	---	---	---					
LDHAL6CP	121498	broad.mit.edu	37	12	63397941	63397942	+	RNA	INS	-	-	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:63397941_63397942insA	ENST00000550738.1	+	0	483_484																											GTGCATTTCCCAAAAACCGTGT	0.426													7	513	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000545204.1_Intron|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								9	422	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													10	281	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													7	121	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													33	1220	---	---	---	---					
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208																											TCTGGCCTGAGTGTGTGTGTGT	0.460													7	150	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													12	391	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		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)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				8	786	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													7	431	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													7	1018	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													8	412	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102494030	102494031	+	In_Frame_Ins	INS	-	-	CTG			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:102494030_102494031insCTG	ENST00000360184.4	+	47	9287_9288	c.9123_9124insCTG	c.(9121-9126)ggtgat>ggCTGtgat	p.3041_3042GD>GCD		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3041	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAAGGAAGGCCTGATGCTGGA	0.559													18	102	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													32	1140	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28200322	28200323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:28200322_28200323insT	ENST00000354638.3	-	17	1978_1979	c.1823_1824insA	c.(1822-1824)acafs	p.T608fs	OCA2_ENST00000353809.5_Frame_Shift_Ins_p.T584fs|OCA2_ENST00000382996.2_Frame_Shift_Ins_p.T608fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	608					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTTCTTGGATATTGGTCTC	0.460									Oculocutaneous Albinism				25	230	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:54630575_54630576insC	ENST00000545554.1	+	16	4601_4602	c.4601_4602insC	c.(4600-4602)accfs	p.T1534fs	UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401													8	435	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													8	315	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													11	401	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													8	284	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													11	546	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													12	112	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					7	771	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													18	328	---	---	---	---					
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:21731033_21731034insC	ENST00000584755.1	+	2	732_733	c.335_336insC	c.(334-336)accfs	p.T112fs	UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.540													8	78	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													13	429	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													8	758	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													13	338	---	---	---	---					
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)ccgacafs	p.T134fs	ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								8	50	---	---	---	---					
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)ccaccafs	p.P729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					lipid transport		lipid binding	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619													11	365	---	---	---	---					
OR4D1	26689	broad.mit.edu	37	17	56232963	56232964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:56232963_56232964insG	ENST00000268912.5	+	1	470_471	c.449_450insG	c.(448-450)gggfs	p.G150fs		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCCGCCTGGGTGGGGGGCTTTG	0.540													7	285	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													12	1096	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9072450	9072451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:9072450_9072451insG	ENST00000397910.4	-	3	15198_15199	c.14995_14996insC	c.(14995-14997)ggcfs	p.G4999fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5001	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						GATCCCTGCCTGGGGGGTTGTA	0.465													7	279	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	16006366	16006367	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:16006366_16006367insG	ENST00000221700.5	-	3	387_388	c.292_293insC	c.(292-294)cctfs	p.P98fs	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	98					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAACTGAGGAGGGGGGAGATG	0.594													10	732	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)ccaggtfs	p.G318fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505													9	514	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													9	904	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													8	281	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													15	252	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51220064	51220065	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr19:51220064_51220065insG	ENST00000293441.1	-	1	130_131	c.112_113insC	c.(112-114)gggfs	p.G38fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.G38fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.G38fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	38					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)		CCGGGTCCCCCGGGGGCCTCGA	0.713													4	4	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													7	384	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													13	319	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416													7	1155	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													12	243	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													8	1082	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47685950	47685951	+	Frame_Shift_Ins	INS	-	-	G	rs139382919		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr21:47685950_47685951insG	ENST00000397708.1	-	12	3173_3174	c.2919_2920insC	c.(2917-2922)cctcccfs	p.P974fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.P974fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	974					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGACGAGGGACGGGGGGCAATG	0.589													7	237	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													16	216	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													7	345	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													12	333	---	---	---	---					
RAB39B	116442	broad.mit.edu	37	X	154490194	154490195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrX:154490194_154490195insC	ENST00000369454.3	-	2	835_836	c.535_536insG	c.(535-537)gatfs	p.D179fs		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	179					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGTAATCTCCCCCCTTTTA	0.465													7	366	---	---	---	---					
RPS4Y2	140032	broad.mit.edu	37	Y	22923177	22923179	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrY:22923177_22923179delCAG	ENST00000288666.5	+	4	270_272	c.270_272delCAG	c.(268-273)atc>at	p.IS90del		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	90	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CAGATGTCATCAGCATTGAGAAA	0.433													28	113	---	---	---	---					
COL24A1	255631	broad.mit.edu	37	1	86375647	86375647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:86375647delC	ENST00000370571.2	-	26	3022	c.2656delG	c.(2656-2658)aafs	p.E886fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.E886fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	886	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACACCTTTTTCTCCCTGCGGA	0.413													57	356	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156815066	156815066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:156815066delC	ENST00000368195.3	-	12	2635	c.2239delG	c.(2239-2241)cafs	p.A748fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	748					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCAGCTGCCCGGCGGTGC	0.697													19	33	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216595290	216595290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr1:216595290delC	ENST00000366943.2	-	2	775	c.389delG	c.(388-390)gafs	p.G130fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.G130fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.G130fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	130					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGTGATTTCCAAAAATAAA	0.438										HNSCC(13;0.011)			16	163	---	---	---	---					
BMP10	27302	broad.mit.edu	37	2	69093407	69093407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:69093407delG	ENST00000295379.1	-	2	789	c.631delC	c.(631-633)aafs	p.Q211fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	211					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCTGACTTTTGCCAACGTCTG	0.502													25	128	---	---	---	---					
SPR	6697	broad.mit.edu	37	2	73115540	73115540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:73115540delG	ENST00000234454.5	+	2	475	c.402delG	c.(400-402)ctfs	p.L134fs	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	134					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGCTCTGCCTGACTTCCAGCG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	218	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97869978	97869978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:97869978delG	ENST00000420699.2	+	50	3283	c.3039delG	c.(3037-3039)aafs	p.K1013fs	ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.K1013fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1013										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGGAAAAAAGGATGGAGAAA	0.328													2	4	---	---	---	---					
IL18RAP	8807	broad.mit.edu	37	2	103059756	103059756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:103059756delG	ENST00000264260.2	+	8	1482	c.893delG	c.(892-894)tgfs	p.W298fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.W156fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	298	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCTAGAGTGGGAAGTCTCA	0.398													12	142	---	---	---	---					
SPAG16	79582	broad.mit.edu	37	2	214794857	214794857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr2:214794857delG	ENST00000331683.5	+	12	1483	c.1388delG	c.(1387-1389)tgfs	p.W463fs	SPAG16_ENST00000374309.3_Frame_Shift_Del_p.W369fs	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	463					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGCAAAATTTGGGATGTTAAT	0.408													15	133	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187518096	187518096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr4:187518096delC	ENST00000441802.2	-	25	12807	c.12598delG	c.(12598-12600)ttfs	p.V4200fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4200					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGCAGAGAACAAACACCACC	0.483										HNSCC(5;0.00058)			16	180	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													4	3	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92765125	92765125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr7:92765125delC	ENST00000318238.4	-	5	1376	c.160delG	c.(160-162)acfs	p.D54fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.D54fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.D54fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	54	SAM.							p.D54N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTACAAGGTCCTTCTCAGTT	0.398													27	240	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103899482	103899482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr10:103899482delC	ENST00000278070.2	+	5	1256	c.1217delC	c.(1216-1218)acfs	p.T406fs	PPRC1_ENST00000413464.2_Frame_Shift_Del_p.T406fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCAAGGTAACCCTCTGCTCT	0.572													36	284	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102494030	102494031	+	In_Frame_Ins	INS	-	-	CTG			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr14:102494030_102494031insCTG	ENST00000360184.4	+	47	9287_9288	c.9123_9124insCTG	c.(9121-9126)ggtgat>ggCTGtgat	p.3041_3042GD>GCD		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3041	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAAGGAAGGCCTGATGCTGGA	0.559													34	159	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28200322	28200323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr15:28200322_28200323insT	ENST00000354638.3	-	17	1978_1979	c.1823_1824insA	c.(1822-1824)acafs	p.T608fs	OCA2_ENST00000382996.2_Frame_Shift_Ins_p.T608fs|OCA2_ENST00000353809.5_Frame_Shift_Ins_p.T584fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	608					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTTCTTGGATATTGGTCTC	0.460									Oculocutaneous Albinism				37	232	---	---	---	---					
CACNA1H	8912	broad.mit.edu	37	16	1270609	1270609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr16:1270609delC	ENST00000348261.5	+	35	6925	c.6677delC	c.(6676-6678)agfs	p.T2226fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.T2220fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.T2220fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2226					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTGAGGCCACGCCTCACAGG	0.751													8	32	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7752089	7752089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr17:7752089delG	ENST00000254846.5	+	11	2872	c.2483delG	c.(2482-2484)cgfs	p.R828fs	KDM6B_ENST00000448097.2_Frame_Shift_Del_p.R828fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	828	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTTTCCACCCGGCCTGGGCCC	0.687													27	181	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													3	3	---	---	---	---					
RPS4Y2	140032	broad.mit.edu	37	Y	22923177	22923179	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	bf763792-789b-47d2-b4fd-1dbcaf7467ab	g.chrY:22923177_22923179delCAG	ENST00000288666.5	+	4	270_272	c.270_272delCAG	c.(268-273)atc>at	p.IS90del		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	90	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CAGATGTCATCAGCATTGAGAAA	0.433													10	15	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	CCGGGA	-	rs1134580		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:26608878_26608883delCCGGGA	ENST00000314675.7	-	11	1189_1194	c.1110_1115delTCCCGG	c.(1108-1116)ggc>gg	p.GPG370del	UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	490						cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718													4	6	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	331	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604													7	355	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													10	486	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													7	250	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													8	180	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													18	380	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													11	872	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150933381	150933382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:150933381_150933382insC	ENST00000271640.5	+	16	3033_3034	c.2843_2844insC	c.(2842-2844)cccfs	p.P948fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	948	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGACTCCCACCCCCCAGATC	0.574													7	251	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													11	275	---	---	---	---					
GON4L	54856	broad.mit.edu	37	1	155783535	155783536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:155783535_155783536insC	ENST00000437809.1	-	10	1463_1464	c.1341_1342insG	c.(1339-1344)ggccccfs	p.GP447fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.GP447fs|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.GP447fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.GP447fs			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	447					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGGGGCGGGGGCCCCATGGGCA	0.525													7	75	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)caafs	p.Q289fs	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													15	199	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156815066	156815066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:156815066delC	ENST00000368195.3	-	12	2635	c.2239delG	c.(2239-2241)cafs	p.A748fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	748					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCAGCTGCCCGGCGGTGC	0.697													7	26	---	---	---	---					
VANGL2	57216	broad.mit.edu	37	1	160388801	160388802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:160388801_160388802insG	ENST00000368061.2	+	4	676_677	c.202_203insG	c.(202-204)gggfs	p.G68fs		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	68					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.E70fs*17(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGACAACTGGGGGGAAACG	0.554													23	700	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													7	533	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						TTGTGTGTAATCCCCCCCAGTG	0.470													18	595	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													7	391	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													8	360	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													8	204	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													14	234	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													11	633	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216595290	216595290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216595290delC	ENST00000366943.2	-	2	775	c.389delG	c.(388-390)gafs	p.G130fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.G130fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.G130fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	130					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGTGATTTCCAAAAATAAA	0.438										HNSCC(13;0.011)			16	133	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													11	631	---	---	---	---					
BMP10	27302	broad.mit.edu	37	2	69093407	69093407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:69093407delG	ENST00000295379.1	-	2	789	c.631delC	c.(631-633)aafs	p.Q211fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	211					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCTGACTTTTGCCAACGTCTG	0.502													37	230	---	---	---	---					
SPR	6697	broad.mit.edu	37	2	73115540	73115540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:73115540delG	ENST00000234454.5	+	2	475	c.402delG	c.(400-402)ctfs	p.L134fs	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	134					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGCTCTGCCTGACTTCCAGCG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	139	---	---	---	---					
IL18RAP	8807	broad.mit.edu	37	2	103059756	103059756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:103059756delG	ENST00000264260.2	+	8	1482	c.893delG	c.(892-894)tgfs	p.W298fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.W156fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	298	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCTAGAGTGGGAAGTCTCA	0.398													15	164	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													10	267	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													9	350	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													14	198	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													10	171	---	---	---	---					
DIS3L2	129563	broad.mit.edu	37	2	233128030	233128031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:233128030_233128031insC	ENST00000325385.7	+	13	1815_1816	c.1539_1540insC	c.(1537-1542)ctccccfs	p.LP513fs	DIS3L2_ENST00000273009.6_Frame_Shift_Ins_p.LP513fs|DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.LP513fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	513							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGAAAGAGCTGCCCCCCATTTC	0.559													7	338	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													7	181	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													15	395	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	46	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	503	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													8	498	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													8	819	---	---	---	---					
TNFSF10	8743	broad.mit.edu	37	3	172241148	172241149	+	Frame_Shift_Ins	INS	-	-	C	rs138912628		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr3:172241148_172241149insC	ENST00000241261.2	-	1	148_149	c.26_27insG	c.(25-27)gccfs	p.A9fs	TNFSF10_ENST00000420541.2_Frame_Shift_Ins_p.A9fs	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	9					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCAGGCTGGGTCCCCCCTGGAC	0.535													7	488	---	---	---	---					
APBB2	323	broad.mit.edu	37	4	41015705	41015706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr4:41015705_41015706insG	ENST00000295974.8	-	6	1358_1359	c.729_730insC	c.(727-732)acactgfs	p.L244fs	APBB2_ENST00000506352.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000513140.1_Frame_Shift_Ins_p.L244fs|APBB2_ENST00000508593.1_Frame_Shift_Ins_p.L244fs	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	244					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTGCACAGTCGGTTTTGGCCC	0.579													8	951	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													8	129	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													10	218	---	---	---	---					
C9	735	broad.mit.edu	37	5	39341300	39341301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:39341300_39341301insG	ENST00000263408.4	-	4	518_519	c.423_424insC	c.(421-426)ccgcagfs	p.Q142fs	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	142	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.C142R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTGTCTCTGCAGGGGGGACGGG	0.460													7	694	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													8	298	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													7	213	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													10	417	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	1114	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													8	227	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													13	235	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													10	1420	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30040951	30040952	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:30040951_30040952insT	ENST00000244360.6	-	3	761_762	c.664_665insA	c.(664-666)gctfs	p.A222fs	RNF39_ENST00000376751.3_Frame_Shift_Ins_p.A222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY.					cytoplasm	zinc ion binding										TCTATGAAGCATTTTTTTGACC	0.411													9	997	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													9	211	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30571291	30571292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:30571291_30571292insC	ENST00000376511.2	-	16	2276_2277	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	575	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCCTCCTCCTCCAGGGCCTTG	0.579													15	480	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													12	315	---	---	---	---					
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)ccatgtfs	p.C345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564													7	313	---	---	---	---					
HLA-DMA	3108	broad.mit.edu	37	6	32917122	32917123	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:32917122_32917123insC	ENST00000374843.4	-	4	791_792	c.706_707insG	c.(706-708)cttfs	p.L236fs	HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395303.3_Frame_Shift_Ins_p.L202fs|HLA-DMA_ENST00000395305.3_Frame_Shift_Ins_p.L141fs|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	236						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						CAGGCCAAAGGCCACGCCACAC	0.589													18	82	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													42	154	---	---	---	---					
SH3BGRL2	83699	broad.mit.edu	37	6	80383443	80383444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:80383443_80383444insC	ENST00000369838.4	+	2	337_338	c.158_159insC	c.(157-159)gccfs	p.A53fs		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	53						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TACAAAAACGTCCCCCCGGAAA	0.470													7	471	---	---	---	---					
PLG	5340	broad.mit.edu	37	6	161157983	161157984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr6:161157983_161157984insG	ENST00000308192.9	+	14	1809_1810	c.1746_1747insG	c.(1744-1749)gtggggfs	p.VG582fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	582	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGGGTTGTAGGGGGGTGTGT	0.525													7	198	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								8	299	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92765125	92765125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:92765125delC	ENST00000318238.4	-	5	1376	c.160delG	c.(160-162)acfs	p.D54fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.D54fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.D54fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	54	SAM.							p.D54N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTACAAGGTCCTTCTCAGTT	0.398													100	477	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													8	554	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													9	178	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100385562	100385596	+	RNA	DEL	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	rs68029369	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	ENST00000542585.1	+	0	7176_7210				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA	0.583													7	61	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													10	126	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													11	389	---	---	---	---					
ENTPD4	9583	broad.mit.edu	37	8	23294483	23294484	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:23294483_23294484insC	ENST00000358689.4	-	10	1572_1573	c.1337_1338insG	c.(1336-1338)ggafs	p.G446fs	ENTPD4_ENST00000356206.6_Frame_Shift_Ins_p.G438fs|ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000417069.2_Frame_Shift_Ins_p.G438fs	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	446					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CATTGTAGTCTCCCCCCATTCG	0.500													19	767	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													14	284	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664918	124664919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:124664918_124664919insG	ENST00000325995.7	-	1	271_272	c.248_249insC	c.(247-249)cacfs	p.H83fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	83	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCCAGGGTTGGGGGGTCAAT	0.579													7	516	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													8	177	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:14848680_14848681insG	ENST00000380881.4	-	8	2061_2062	c.1246_1247insC	c.(1246-1248)tgtfs	p.C416fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					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)		CCAGGATACACGGGGGGCATTT	0.426													8	205	---	---	---	---					
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:32633584delT	ENST00000242310.4	-	1	2083	c.1994delA	c.(1993-1995)agfs	p.K665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTTGGCCTTTTTTTTGAT	0.478													8	299	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2500-2505)taccccfs	p.YP834fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	834										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.540													7	1591	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													7	388	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													7	313	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													11	289	---	---	---	---					
EPC1	80314	broad.mit.edu	37	10	32575872	32575873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:32575872_32575873insG	ENST00000319778.6	-	8	1525_1526	c.1223_1224insC	c.(1222-1224)gggfs	p.G408fs	EPC1_ENST00000263062.8_Frame_Shift_Ins_p.G408fs|EPC1_ENST00000375110.2_Frame_Shift_Ins_p.G358fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	408					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ACTGACAGCCTGCTTTCCTACG	0.337													7	89	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								8	443	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													7	384	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95169429	95169430	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:95169429_95169430insT	ENST00000371501.4	-	6	622_623	c.500_501insA	c.(499-501)aggfs	p.R167fs	MYOF_ENST00000359263.4_Frame_Shift_Ins_p.R167fs|MYOF_ENST00000358334.5_Frame_Shift_Ins_p.R167fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.R167fs|MYOF_ENST00000371489.1_Frame_Shift_Ins_p.R167fs			Q9NZM1	MYOF_HUMAN	myoferlin	167					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAACTGGCCCCTTGGGCCCAGG	0.540													12	764	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103899482	103899482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:103899482delC	ENST00000278070.2	+	5	1256	c.1217delC	c.(1216-1218)acfs	p.T406fs	PPRC1_ENST00000413464.2_Frame_Shift_Del_p.T406fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCAAGGTAACCCTCTGCTCT	0.572													33	206	---	---	---	---					
ITPRIP	85450	broad.mit.edu	37	10	106075158	106075159	+	Frame_Shift_Ins	INS	-	-	G	rs3802671	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:106075158_106075159insG	ENST00000278071.2	-	3	1103_1104	c.651_652insC	c.(649-654)ccagccfs	p.A218fs	ITPRIP_ENST00000337478.1_Frame_Shift_Ins_p.A218fs|ITPRIP_ENST00000358187.2_Frame_Shift_Ins_p.A218fs	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	218						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTAGGGCTCGGGGGGTGTGA	0.644													7	123	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				10	130	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													27	882	---	---	---	---					
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:47074000_47074001insC	ENST00000395460.2	+	3	249_250	c.211_212insC	c.(211-213)cccfs	p.P71fs	C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000527268.1_3'UTR	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441													9	398	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													9	342	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	592	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													7	131	---	---	---	---					
NRXN2	9379	broad.mit.edu	37	11	64375285	64375286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:64375285_64375286insG	ENST00000265459.6	-	23	4982_4983	c.4521_4522insC	c.(4519-4524)cccggafs	p.G1508fs	NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.G1501fs|NRXN2_ENST00000377551.1_Frame_Shift_Ins_p.G1508fs|NRXN2_ENST00000377559.3_Frame_Shift_Ins_p.G1438fs|NRXN2_ENST00000301894.2_Frame_Shift_Ins_p.G462fs	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					cell adhesion	integral to membrane	metal ion binding	p.T1508fs*82(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCGTCGTCCGTGGGGGGGAGGC	0.693													3	3	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													18	1376	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													18	1284	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													10	1372	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													11	187	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gccfs	p.A499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML								13	526	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													11	198	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													7	272	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													16	417	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)ccccacfs	p.H1529fs	LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465													9	664	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													17	1330	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													8	180	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)tgtfs	p.C374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACTGTCAACATCCCCCCAGTCA	0.470													7	526	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													7	320	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49724676	49724677	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:49724676_49724677insC	ENST00000551245.1	+	13	2159_2160	c.2048_2049insC	c.(2047-2049)accfs	p.T683fs	TROAP_ENST00000257909.3_Frame_Shift_Ins_p.T683fs|TROAP_ENST00000547923.1_Frame_Shift_Ins_p.T362fs			Q12815	TROAP_HUMAN	trophinin associated protein	683	Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTTTGTGCCAGCCCCCCTATCT	0.569													10	298	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49725380	49725381	+	Frame_Shift_Ins	INS	-	-	C	rs78835037		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:49725380_49725381insC	ENST00000551245.1	+	14	2698_2699	c.2587_2588insC	c.(2587-2589)cccfs	p.P863fs	TROAP_ENST00000257909.3_Frame_Shift_Ins_p.P773fs|TROAP_ENST00000547923.1_Frame_Shift_Ins_p.P452fs			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGTTCTGCTGCCCCCCAGGGC	0.550											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	362	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													37	952	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													7	1460	---	---	---	---					
LDHAL6CP	121498	broad.mit.edu	37	12	63397941	63397942	+	RNA	INS	-	-	A			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:63397941_63397942insA	ENST00000550738.1	+	0	483_484																											GTGCATTTCCCAAAAACCGTGT	0.426													7	513	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													10	281	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													7	121	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													8	200	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													33	1220	---	---	---	---					
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208																											TCTGGCCTGAGTGTGTGTGTGT	0.460													7	150	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													12	391	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		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)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				8	786	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													23	425	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													8	412	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102494030	102494031	+	In_Frame_Ins	INS	-	-	CTG			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:102494030_102494031insCTG	ENST00000360184.4	+	47	9287_9288	c.9123_9124insCTG	c.(9121-9126)ggtgat>ggCTGtgat	p.3041_3042GD>GCD		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3041	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAAGGAAGGCCTGATGCTGGA	0.559													18	102	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28200322	28200323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:28200322_28200323insT	ENST00000354638.3	-	17	1978_1979	c.1823_1824insA	c.(1822-1824)acafs	p.T608fs	OCA2_ENST00000382996.2_Frame_Shift_Ins_p.T608fs|OCA2_ENST00000353809.5_Frame_Shift_Ins_p.T584fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	608					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTTCTTGGATATTGGTCTC	0.460									Oculocutaneous Albinism				25	230	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:54630575_54630576insC	ENST00000545554.1	+	16	4601_4602	c.4601_4602insC	c.(4600-4602)accfs	p.T1534fs	UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401													8	435	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													8	315	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													7	342	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													7	138	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													2	4	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													11	546	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													12	112	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													18	328	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													13	429	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													8	758	---	---	---	---					
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)ccgacafs	p.T134fs	ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								8	50	---	---	---	---					
OR4D1	26689	broad.mit.edu	37	17	56232963	56232964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:56232963_56232964insG	ENST00000268912.5	+	1	470_471	c.449_450insG	c.(448-450)gggfs	p.G150fs		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCCGCCTGGGTGGGGGGCTTTG	0.540													7	285	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													12	1096	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9072450	9072451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:9072450_9072451insG	ENST00000397910.4	-	3	15198_15199	c.14995_14996insC	c.(14995-14997)ggcfs	p.G4999fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5001	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						GATCCCTGCCTGGGGGGTTGTA	0.465													7	279	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:12155624_12155625insT	ENST00000602107.1	-	5	731_732	c.732_733insA	c.(730-735)aacctafs	p.NL244fs	CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396													9	463	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	15996865	15996866	+	Splice_Site	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:15996865_15996866insG	ENST00000221700.5	-	9	1081		c.e9-2		CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCATGGCCTGGGGGGCAGCA	0.629													12	367	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													8	217	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													7	2874	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													9	904	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													8	281	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51220064	51220065	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:51220064_51220065insG	ENST00000293441.1	-	1	130_131	c.112_113insC	c.(112-114)gggfs	p.G38fs	SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.G38fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.G38fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	38					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)		CCGGGTCCCCCGGGGGCCTCGA	0.713													4	4	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													15	197	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													16	416	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													7	384	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													13	319	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													12	243	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													8	1082	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525													10	321	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													16	216	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-606)gggfs	p.G202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574													7	72	---	---	---	---					
BPIFC	254240	broad.mit.edu	37	22	32831828	32831829	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:32831828_32831829insG	ENST00000397452.1	-	9	896_897	c.786_787insC	c.(784-789)cctctcfs	p.L263fs	BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.L263fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.L77fs			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	263						extracellular region	lipopolysaccharide binding|phospholipid binding										ACTGGTGAGAAGGGGGGGTCGG	0.460													10	193	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													25	523	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													7	345	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													9	131	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:129146962_129146963insG	ENST00000540052.1	+	3	258_259	c.214_215insG	c.(214-216)gggfs	p.G72fs	BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569													10	254	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													8	266	---	---	---	---					
RPS4Y2	140032	broad.mit.edu	37	Y	22923177	22923179	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrY:22923177_22923179delCAG	ENST00000288666.5	+	4	270_272	c.270_272delCAG	c.(268-273)atc>at	p.IS90del		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	90	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CAGATGTCATCAGCATTGAGAAA	0.433													28	113	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156815066	156815066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:156815066delC	ENST00000368195.3	-	12	2635	c.2239delG	c.(2239-2241)cafs	p.A748fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	748					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCAGCTGCCCGGCGGTGC	0.697													19	33	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216595290	216595290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr1:216595290delC	ENST00000366943.2	-	2	775	c.389delG	c.(388-390)gafs	p.G130fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.G130fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.G130fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	130					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGTGATTTCCAAAAATAAA	0.438										HNSCC(13;0.011)			16	163	---	---	---	---					
BMP10	27302	broad.mit.edu	37	2	69093407	69093407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:69093407delG	ENST00000295379.1	-	2	789	c.631delC	c.(631-633)aafs	p.Q211fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	211					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCTGACTTTTGCCAACGTCTG	0.502													25	128	---	---	---	---					
SPR	6697	broad.mit.edu	37	2	73115540	73115540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:73115540delG	ENST00000234454.5	+	2	475	c.402delG	c.(400-402)ctfs	p.L134fs	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	134					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGCTCTGCCTGACTTCCAGCG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	218	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97869978	97869978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:97869978delG	ENST00000420699.2	+	50	3283	c.3039delG	c.(3037-3039)aafs	p.K1013fs	ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.K1013fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1013										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGGAAAAAAGGATGGAGAAA	0.328													2	4	---	---	---	---					
IL18RAP	8807	broad.mit.edu	37	2	103059756	103059756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:103059756delG	ENST00000264260.2	+	8	1482	c.893delG	c.(892-894)tgfs	p.W298fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.W156fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	298	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCTAGAGTGGGAAGTCTCA	0.398													12	142	---	---	---	---					
GCSHP3	100329109	broad.mit.edu	37	2	206981155	206981155	+	RNA	DEL	C	C	-	rs71410864		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr2:206981155delC	ENST00000453039.1	+	0	885					NR_033248.1																						AGGCAGGGCGCGGCAGGTGCC	0.627													3	6	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92765125	92765125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:92765125delC	ENST00000318238.4	-	5	1376	c.160delG	c.(160-162)acfs	p.D54fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.D54fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.D54fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	54	SAM.							p.D54N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTACAAGGTCCTTCTCAGTT	0.398													27	240	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													9	37	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103899482	103899482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr10:103899482delC	ENST00000278070.2	+	5	1256	c.1217delC	c.(1216-1218)acfs	p.T406fs	PPRC1_ENST00000413464.2_Frame_Shift_Del_p.T406fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCAAGGTAACCCTCTGCTCT	0.572													36	284	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102494030	102494031	+	In_Frame_Ins	INS	-	-	CTG			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr14:102494030_102494031insCTG	ENST00000360184.4	+	47	9287_9288	c.9123_9124insCTG	c.(9121-9126)ggtgat>ggCTGtgat	p.3041_3042GD>GCD		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3041	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAAGGAAGGCCTGATGCTGGA	0.559													34	159	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28200322	28200323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr15:28200322_28200323insT	ENST00000354638.3	-	17	1978_1979	c.1823_1824insA	c.(1822-1824)acafs	p.T608fs	OCA2_ENST00000382996.2_Frame_Shift_Ins_p.T608fs|OCA2_ENST00000353809.5_Frame_Shift_Ins_p.T584fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	608					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTTCTTGGATATTGGTCTC	0.460									Oculocutaneous Albinism				37	232	---	---	---	---					
CACNA1H	8912	broad.mit.edu	37	16	1270609	1270609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:1270609delC	ENST00000348261.5	+	35	6925	c.6677delC	c.(6676-6678)agfs	p.T2226fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.T2220fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.T2220fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2226					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTGAGGCCACGCCTCACAGG	0.751													8	32	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	4	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7752089	7752089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr17:7752089delG	ENST00000254846.5	+	11	2872	c.2483delG	c.(2482-2484)cgfs	p.R828fs	KDM6B_ENST00000448097.2_Frame_Shift_Del_p.R828fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	828	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTTTCCACCCGGCCTGGGCCC	0.687													27	181	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	RNA	DEL	T	T	-	rs113703393		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													2	4	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													9	12	---	---	---	---					
RPS4Y2	140032	broad.mit.edu	37	Y	22923177	22923179	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	4ca6e7fb-505c-4aa7-9082-ce2f89dad76a	g.chrY:22923177_22923179delCAG	ENST00000288666.5	+	4	270_272	c.270_272delCAG	c.(268-273)atc>at	p.IS90del		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	90	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CAGATGTCATCAGCATTGAGAAA	0.433													10	15	---	---	---	---					
MAST2	23139	broad.mit.edu	37	1	46494558	46494559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:46494558_46494559insT	ENST00000361297.2	+	18	2454_2455	c.2171_2172insT	c.(2170-2172)cttfs	p.L724fs	MAST2_ENST00000372009.2_Frame_Shift_Ins_p.L654fs|MAST2_ENST00000372008.1_Frame_Shift_Ins_p.L609fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTGCGTCCCTTTTTTTGGAG	0.550													7	471	---	---	---	---					
COL24A1	255631	broad.mit.edu	37	1	86375647	86375647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:86375647delC	ENST00000370571.2	-	26	3022	c.2656delG	c.(2656-2658)aafs	p.E886fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.E886fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	886	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACACCTTTTTCTCCCTGCGGA	0.413													70	456	---	---	---	---					
NTNG1	22854	broad.mit.edu	37	1	107866959	107866960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:107866959_107866960insC	ENST00000370067.1	+	3	929_930	c.302_303insC	c.(301-303)cccfs	p.P101fs	NTNG1_ENST00000370061.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370065.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370066.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370070.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370071.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370072.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370073.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370074.4_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370068.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Frame_Shift_Ins_p.P101fs			Q9Y2I2	NTNG1_HUMAN	netrin G1	101	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGCTGGCACACCCCCCTGAGC	0.485													8	517	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156815066	156815066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:156815066delC	ENST00000368195.3	-	12	2635	c.2239delG	c.(2239-2241)cafs	p.A748fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	748					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCAGCTGCCCGGCGGTGC	0.697													7	26	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													8	204	---	---	---	---					
LOC101930114	101930114	broad.mit.edu	37	1	209842186	209842186	+	RNA	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:209842186delG	ENST00000441672.1	-	0	96				RP1-28O10.1_ENST00000445272.1_RNA																							gagaggtgatggagagcaagg	0.488													2	4	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216595290	216595290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216595290delC	ENST00000366943.2	-	2	775	c.389delG	c.(388-390)gafs	p.G130fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.G130fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.G130fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	130					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGTGATTTCCAAAAATAAA	0.438										HNSCC(13;0.011)			16	133	---	---	---	---					
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:68691369_68691370insC	ENST00000377957.2	-	4	846_847	c.439_440insG	c.(439-441)aatfs	p.N147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386													7	436	---	---	---	---					
BMP10	27302	broad.mit.edu	37	2	69093407	69093407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:69093407delG	ENST00000295379.1	-	2	789	c.631delC	c.(631-633)aafs	p.Q211fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	211					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCTGACTTTTGCCAACGTCTG	0.502													37	230	---	---	---	---					
SPR	6697	broad.mit.edu	37	2	73115540	73115540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:73115540delG	ENST00000234454.5	+	2	475	c.402delG	c.(400-402)ctfs	p.L134fs	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	134					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGCTCTGCCTGACTTCCAGCG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	139	---	---	---	---					
IL18RAP	8807	broad.mit.edu	37	2	103059756	103059756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:103059756delG	ENST00000264260.2	+	8	1482	c.893delG	c.(892-894)tgfs	p.W298fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.W156fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	298	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCTAGAGTGGGAAGTCTCA	0.398													15	164	---	---	---	---					
RAB6C	84084	broad.mit.edu	37	2	130738387	130738388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:130738387_130738388insT	ENST00000410061.2	+	1	1153_1154	c.699_700insT	c.(697-702)ggtgaafs	p.E234fs		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	234					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGAATATTGGCTTGAACCTTTT	0.450													8	437	---	---	---	---					
SPAG16	79582	broad.mit.edu	37	2	214794857	214794857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:214794857delG	ENST00000331683.5	+	12	1483	c.1388delG	c.(1387-1389)tgfs	p.W463fs	SPAG16_ENST00000374309.3_Frame_Shift_Del_p.W369fs	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	463					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGCAAAATTTGGGATGTTAAT	0.408													25	259	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187518096	187518096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:187518096delC	ENST00000441802.2	-	25	12807	c.12598delG	c.(12598-12600)ttfs	p.V4200fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4200					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGCAGAGAACAAACACCACC	0.483										HNSCC(5;0.00058)			20	169	---	---	---	---					
SH3BGRL2	83699	broad.mit.edu	37	6	80383443	80383444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr6:80383443_80383444insC	ENST00000369838.4	+	2	337_338	c.158_159insC	c.(157-159)gccfs	p.A53fs		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	53						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TACAAAAACGTCCCCCCGGAAA	0.470													7	471	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92765125	92765125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:92765125delC	ENST00000318238.4	-	5	1376	c.160delG	c.(160-162)acfs	p.D54fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.D54fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.D54fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	54	SAM.							p.D54N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTACAAGGTCCTTCTCAGTT	0.398													100	477	---	---	---	---					
ERICH1-AS1	619343	broad.mit.edu	37	8	706205	706206	+	RNA	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:706205_706206insG	ENST00000522092.1	+	0	175				ERICH1-AS1_ENST00000577187.1_RNA	NR_073397.1|NR_073466.1																						AGCTGGCGTCTGGGGGGGATAC	0.594													2	4	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664918	124664919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr8:124664918_124664919insG	ENST00000325995.7	-	1	271_272	c.248_249insC	c.(247-249)cacfs	p.H83fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	83	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCCAGGGTTGGGGGGTCAAT	0.579													7	516	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103899482	103899482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:103899482delC	ENST00000278070.2	+	5	1256	c.1217delC	c.(1216-1218)acfs	p.T406fs	PPRC1_ENST00000413464.2_Frame_Shift_Del_p.T406fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCAAGGTAACCCTCTGCTCT	0.572													33	206	---	---	---	---					
NRXN2	9379	broad.mit.edu	37	11	64375285	64375286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:64375285_64375286insG	ENST00000265459.6	-	23	4982_4983	c.4521_4522insC	c.(4519-4524)cccggafs	p.G1508fs	NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.G1501fs|NRXN2_ENST00000301894.2_Frame_Shift_Ins_p.G462fs|NRXN2_ENST00000377559.3_Frame_Shift_Ins_p.G1438fs|NRXN2_ENST00000377551.1_Frame_Shift_Ins_p.G1508fs	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					cell adhesion	integral to membrane	metal ion binding	p.T1508fs*82(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCGTCGTCCGTGGGGGGGAGGC	0.693													3	3	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49440430	49440431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:49440430_49440431insG	ENST00000301067.7	-	15	4378_4379	c.4379_4380insC	c.(4378-4380)cctfs	p.P1460fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGGTGAGCAGTGGGGGGTCCAG	0.564													8	265	---	---	---	---					
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208																											TCTGGCCTGAGTGTGTGTGTGT	0.460													7	150	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102494030	102494031	+	In_Frame_Ins	INS	-	-	CTG			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:102494030_102494031insCTG	ENST00000360184.4	+	47	9287_9288	c.9123_9124insCTG	c.(9121-9126)ggtgat>ggCTGtgat	p.3041_3042GD>GCD		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3041	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAAGGAAGGCCTGATGCTGGA	0.559													18	102	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28200322	28200323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:28200322_28200323insT	ENST00000354638.3	-	17	1978_1979	c.1823_1824insA	c.(1822-1824)acafs	p.T608fs	OCA2_ENST00000353809.5_Frame_Shift_Ins_p.T584fs|OCA2_ENST00000382996.2_Frame_Shift_Ins_p.T608fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	608					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTTCTTGGATATTGGTCTC	0.460									Oculocutaneous Albinism				25	230	---	---	---	---					
CEP112	201134	broad.mit.edu	37	17	63957643	63957643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:63957643delC	ENST00000392769.2	-	18	2028	c.1810delG	c.(1810-1812)aafs	p.E605fs	CEP112_ENST00000541355.1_Frame_Shift_Del_p.E240fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.E605fs|CEP112_ENST00000537949.1_Frame_Shift_Del_p.E563fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	605						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTAAACTCTTCCAGAGCGGCA	0.498													13	155	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.530													9	743	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	8	---	---	---	---					
RPS4Y2	140032	broad.mit.edu	37	Y	22923177	22923179	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-2668-01A-01W-0928-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a85823f-a453-4023-95c9-4acbe6c79ce3	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrY:22923177_22923179delCAG	ENST00000288666.5	+	4	270_272	c.270_272delCAG	c.(268-273)atc>at	p.IS90del		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	90	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CAGATGTCATCAGCATTGAGAAA	0.433													28	113	---	---	---	---					
COL24A1	255631	broad.mit.edu	37	1	86375647	86375647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:86375647delC	ENST00000370571.2	-	26	3022	c.2656delG	c.(2656-2658)aafs	p.E886fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.E886fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	886	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACACCTTTTTCTCCCTGCGGA	0.413													57	356	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													6	12	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000331860.3	+	3	313_336	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)del	p.EPGCTKVP95del	SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del|SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													33	115	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000331860.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)del	p.PGYTKVPE104del	SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del|SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													23	166	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	186	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156815066	156815066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:156815066delC	ENST00000368195.3	-	12	2635	c.2239delG	c.(2239-2241)cafs	p.A748fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	748					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCCAGCTGCCCGGCGGTGC	0.697													19	33	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216595290	216595290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr1:216595290delC	ENST00000366943.2	-	2	775	c.389delG	c.(388-390)gafs	p.G130fs	USH2A_ENST00000366942.3_Frame_Shift_Del_p.G130fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.G130fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	130					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGTGATTTCCAAAAATAAA	0.438										HNSCC(13;0.011)			16	163	---	---	---	---					
BMP10	27302	broad.mit.edu	37	2	69093407	69093407	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:69093407delG	ENST00000295379.1	-	2	789	c.631delC	c.(631-633)aafs	p.Q211fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	211					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCTGACTTTTGCCAACGTCTG	0.502													25	128	---	---	---	---					
SPR	6697	broad.mit.edu	37	2	73115540	73115540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:73115540delG	ENST00000234454.5	+	2	475	c.402delG	c.(400-402)ctfs	p.L134fs	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	134					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						TGCTCTGCCTGACTTCCAGCG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	218	---	---	---	---					
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236																											AATTTACTCAGCCAATGTGCTC	0.480													8	325	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97869978	97869978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:97869978delG	ENST00000420699.2	+	50	3283	c.3039delG	c.(3037-3039)aafs	p.K1013fs	ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.K1013fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1013										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGGAAAAAAGGATGGAGAAA	0.328													2	4	---	---	---	---					
IL18RAP	8807	broad.mit.edu	37	2	103059756	103059756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:103059756delG	ENST00000264260.2	+	8	1482	c.893delG	c.(892-894)tgfs	p.W298fs	IL18RAP_ENST00000409369.1_Frame_Shift_Del_p.W156fs	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	298	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCTAGAGTGGGAAGTCTCA	0.398													12	142	---	---	---	---					
CRYGEP	200575	broad.mit.edu	37	2	208976968	208976969	+	RNA	INS	-	-	A	rs11899959	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:208976968_208976969insA	ENST00000440809.1	-	0	243																											GCACGGAAGGGCCCGGGTGGGA	0.624													6	12	---	---	---	---					
SPAG16	79582	broad.mit.edu	37	2	214794857	214794857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr2:214794857delG	ENST00000331683.5	+	12	1483	c.1388delG	c.(1387-1389)tgfs	p.W463fs	SPAG16_ENST00000374309.3_Frame_Shift_Del_p.W369fs	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	463					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGCAAAATTTGGGATGTTAAT	0.408													15	133	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14581879	14581879	+	RNA	DEL	T	T	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr3:14581879delT	ENST00000273083.3	-	0	2							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGGCCCTCCCTCCCCTCCCCA	0.677													11	12	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:1957868_1957869insC	ENST00000382895.3	+	17	3265_3266	c.2834_2835insC	c.(2833-2835)gagfs	p.E945fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.E293fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.E945fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	945					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.510			T	IGH@	MM								8	293	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187518096	187518096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr4:187518096delC	ENST00000441802.2	-	25	12807	c.12598delG	c.(12598-12600)ttfs	p.V4200fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4200					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGCAGAGAACAAACACCACC	0.483										HNSCC(5;0.00058)			16	180	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													10	110	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92765125	92765125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr7:92765125delC	ENST00000318238.4	-	5	1376	c.160delG	c.(160-162)acfs	p.D54fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.D54fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.D54fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	54	SAM.							p.D54N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTACAAGGTCCTTCTCAGTT	0.398													27	240	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103899482	103899482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr10:103899482delC	ENST00000278070.2	+	5	1256	c.1217delC	c.(1216-1218)acfs	p.T406fs	PPRC1_ENST00000413464.2_Frame_Shift_Del_p.T406fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCCAAGGTAACCCTCTGCTCT	0.572													36	284	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													8	18	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	ENST00000398531.1	+	1	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)gggctg>ggGGCTGTGGCTCCGGCTGTGGGgctg	p.7_8insGAVAPAV	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.7_8insGAVAPAV	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	7						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668													68	149	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													9	20	---	---	---	---					
DAZAP2	9802	broad.mit.edu	37	12	51634685	51634686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr12:51634685_51634686insC	ENST00000412716.3	+	3	779_780	c.163_164insC	c.(163-165)tgcfs	p.C55fs	DAZAP2_ENST00000604900.1_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549555.1_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000449723.3_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000425012.2_Frame_Shift_Ins_p.C55fs|DAZAP2_ENST00000439799.2_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	55	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GCACCCAGGGGCTGCCACAGTC	0.510													7	206	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)tggfs	p.W150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.W150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.530													7	378	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102494030	102494031	+	In_Frame_Ins	INS	-	-	CTG			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr14:102494030_102494031insCTG	ENST00000360184.4	+	47	9287_9288	c.9123_9124insCTG	c.(9121-9126)ggtgat>ggCTGtgat	p.3041_3042GD>GCD		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3041	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAAGGAAGGCCTGATGCTGGA	0.559													34	159	---	---	---	---					
OCA2	4948	broad.mit.edu	37	15	28200322	28200323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr15:28200322_28200323insT	ENST00000354638.3	-	17	1978_1979	c.1823_1824insA	c.(1822-1824)acafs	p.T608fs	OCA2_ENST00000353809.5_Frame_Shift_Ins_p.T584fs|OCA2_ENST00000382996.2_Frame_Shift_Ins_p.T608fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	608					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGAGTTCTTGGATATTGGTCTC	0.460									Oculocutaneous Albinism				37	232	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													15	549	---	---	---	---					
CA7	766	broad.mit.edu	37	16	66884456	66884457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:66884456_66884457insC	ENST00000394069.3	+	3	514_515	c.83_84insC	c.(82-84)gccfs	p.A28fs	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Frame_Shift_Ins_p.A84fs	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	84					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTGACTGGGGGCCCCCTGGAAG	0.629													8	223	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)del	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													10	175	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7752089	7752089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:7752089delG	ENST00000254846.5	+	11	2872	c.2483delG	c.(2482-2484)cgfs	p.R828fs	KDM6B_ENST00000448097.2_Frame_Shift_Del_p.R828fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	828	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTTTCCACCCGGCCTGGGCCC	0.687													27	181	---	---	---	---					
CEP112	201134	broad.mit.edu	37	17	63957643	63957643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr17:63957643delC	ENST00000392769.2	-	18	2028	c.1810delG	c.(1810-1812)aafs	p.E605fs	CEP112_ENST00000537949.1_Frame_Shift_Del_p.E563fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.E605fs|CEP112_ENST00000541355.1_Frame_Shift_Del_p.E240fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	605						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTAAACTCTTCCAGAGCGGCA	0.498													20	231	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566													7	87	---	---	---	---					
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggg>gg	p.GE381del	PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635													7	78	---	---	---	---					
RPS4Y2	140032	broad.mit.edu	37	Y	22923177	22923179	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-2668-01A-01D-0969-08	TCGA-44-2668-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2e16fe-c221-40e2-a173-e7ec57506528	be4ddf2e-c59f-47f9-9fa8-18a6f17b819a	g.chrY:22923177_22923179delCAG	ENST00000288666.5	+	4	270_272	c.270_272delCAG	c.(268-273)atc>at	p.IS90del		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	90	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CAGATGTCATCAGCATTGAGAAA	0.433													10	15	---	---	---	---					
