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
NPHP4	261734	broad.mit.edu	37	1	5969224	5969224	+	Silent	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:5969224A>T	uc001alq.2	-	11	1759	c.1491T>A	c.(1489-1491)ccT>ccA	p.P497P	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	497					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTCCCACAGGTGAGTTCT	0.597												
TNFRSF1B	7133	broad.mit.edu	37	1	12253032	12253032	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:12253032A>C	uc001att.3	+	5	753	c.664A>C	c.(664-666)Aca>Cca	p.T222P	TNFRSF1B_uc001atu.3_Missense_Mutation_p.T27P|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	222					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	p.T222P(2)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCCAGTGTCCACACGATCCCA	0.637												
THRAP3	9967	broad.mit.edu	37	1	36752347	36752347	+	Silent	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:36752347T>C	uc001cae.4	+	3	740	c.516T>C	c.(514-516)tcT>tcC	p.S172S	THRAP3_uc001caf.4_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	172	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAATCTTCTAAGCGCAAGT	0.527			T	USP6	aneurysmal bone cysts							
C8A	731	broad.mit.edu	37	1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:57383364G>A	uc001cyo.2	+	10	1862	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	577	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557												
LPAR3	23566	broad.mit.edu	37	1	85331129	85331142	+	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	ACTTGTATGCGGAG	-	rs140283678		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85331129_85331142delACTTGTATGCGGAG	uc001dkl.2	-	0	701_714	c.662_675delCTCCGCATACAAGT	c.(661-675)tctccgcatacaagtfs	p.S221fs	LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	221					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGATGGACCCACTTGTATGCGGAGACAAGACGTT	0.509												
SYDE2	84144	broad.mit.edu	37	1	85648703	85648703	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85648703C>T	uc009wcm.3	-	2	1671	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	SYDE2_uc001dku.4_Missense_Mutation_p.R541Q	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	541					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			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)		GCTTAGCTTTCGGCTAAATTC	0.338												
KCNA10	3744	broad.mit.edu	37	1	111060591	111060591	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:111060591C>A	uc001dzt.1	-	0	1207	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	273						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TAGACTCCACCATGAAGAAAG	0.532												
FLG2	388698	broad.mit.edu	37	1	152326339	152326339	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:152326339C>T	uc001ezw.4	-	2	3996	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1308							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCTGCGAACTGTGGA	0.473												
ETV3L	440695	broad.mit.edu	37	1	157068567	157068567	+	Silent	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:157068567G>T	uc001fqq.2	-	2	702	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCAAGTGGGGGGATGGCGGCG	0.602												
PVRL4	81607	broad.mit.edu	37	1	161043074	161043074	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:161043074C>T	uc001fxo.2	-	7	1548	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	417					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCTCTCAGCCCTACACTCTCC	0.652												
RGS1	5996	broad.mit.edu	37	1	192547487	192547487	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:192547487C>G	uc001gsi.1	+	3	482	c.416C>G	c.(415-417)gCa>gGa	p.A139G	RGS1_uc010pou.1_Missense_Mutation_p.A139G	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	139	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ATATATAAAGCATTTGTGCAT	0.343												
THNSL1	79896	broad.mit.edu	37	10	25313145	25313145	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:25313145G>A	uc001isi.4	+	2	1322	c.993G>A	c.(991-993)agG>agA	p.R331R	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.R331R	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	331					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTCCTGTCAGGCACCTTTCAG	0.433												
CNNM2	54805	broad.mit.edu	37	10	104836896	104836896	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:104836896A>T	uc001kwm.3	+	7	2750	c.2587A>T	c.(2587-2589)Agt>Tgt	p.S863C	CNNM2_uc001kwn.3_Missense_Mutation_p.S841C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	863					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTGACGCACAGTAAGGCCAA	0.617												
SMC3	9126	broad.mit.edu	37	10	112350834	112350834	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:112350834A>G	uc001kze.3	+	16	1882	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	586	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAGAGGTTACTTTTCTGCC	0.328												
RAG2	5897	broad.mit.edu	37	11	36614899	36614899	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:36614899C>A	uc021qge.1	-	0	820	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	RAG2_uc021qgc.1_Missense_Mutation_p.V274F|RAG2_uc021qgd.1_Missense_Mutation_p.V274F|RAG2_uc001mwv.4_Missense_Mutation_p.V274F|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	274					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TAGCCACCAACAATAACAAAT	0.428									Familial Hemophagocytic Lymphohistiocytosis			
PPME1	51400	broad.mit.edu	37	11	73964552	73964552	+	Silent	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:73964552T>C	uc001ouw.3	+	13	1257	c.1158T>C	c.(1156-1158)tgT>tgC	p.C386C	PPME1_uc009yty.3_Silent_p.C270C|PPME1_uc001oux.3_Silent_p.C199C|P4HA3_uc001ouy.4_Intron|SNORA7_uc021qnf.1_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	386					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTCCTGGCTGTTAGTGACCTG	0.498												
HMBS	3145	broad.mit.edu	37	11	118962836	118962836	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:118962836T>G	uc001puz.1	+	10	770	c.613_splice	c.e10-1	p.I205_splice	HMBS_uc009zao.2_Splice_Site_p.I150_splice|HMBS_uc001pva.1_Splice_Site_p.I205_splice|HMBS_uc001pve.1_Splice_Site_p.I188_splice|HMBS_uc001pvf.1_Splice_Site_p.I188_splice	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	205					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCTCCACAGATCCTGCACCCT	0.537												
ANO2	57101	broad.mit.edu	37	12	5963280	5963280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:5963280G>A	uc001qnm.2	-	3	622	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ANO2_uc021qtt.1_Missense_Mutation_p.R188W	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	188						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCGTGTATCCGGACAAAGATG	0.458												
LUM	4060	broad.mit.edu	37	12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:91497971G>A	uc001tbm.3	-	2	1377	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	330					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383												
DAO	1610	broad.mit.edu	37	12	109288048	109288048	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:109288048G>A	uc001tnr.4	+	6	1188	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DAO_uc001tnq.4_Missense_Mutation_p.E107K|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	173					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGTGGCAAGAGAAGGCGCAGA	0.582												
PCDH9	5101	broad.mit.edu	37	13	67800099	67800099	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr13:67800099A>T	uc001vik.3	-	1	3166	c.2474T>A	c.(2473-2475)gTg>gAg	p.V825E	PCDH9_uc001vil.3_Missense_Mutation_p.V825E|PCDH9_uc010thl.2_Missense_Mutation_p.V825E|PCDH9_uc001vin.3_Missense_Mutation_p.V825E	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	825					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGACCACCATGGCACC	0.517												
OR4N5	390437	broad.mit.edu	37	14	20612258	20612258	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:20612258C>T	uc010tla.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483												
CDCA4	55038	broad.mit.edu	37	14	105477589	105477589	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:105477589G>A	uc021sep.1	-	0	678	c.678C>T	c.(676-678)tcC>tcT	p.S226S	CDCA4_uc001yqa.2_Silent_p.S226S|CDCA4_uc001yqb.2_Silent_p.S226S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	226						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CGCCCAGGTCGGACTTGCAGC	0.672												
RYR3	6263	broad.mit.edu	37	15	34130001	34130002	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:34130001_34130002insA	uc001zhi.3	+	88	11890_11891	c.11820_11821insA	c.(11818-11823)tccaaafs	p.S3940fs	RYR3_uc010bar.3_Frame_Shift_Ins_p.S3935fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3940	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		GAATTATCTCCAAAAAAGAATT	0.391												
EIF2AK4	440275	broad.mit.edu	37	15	40282488	40282488	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:40282488G>A	uc001zkm.1	+	15	2591	c.2541G>A	c.(2539-2541)cgG>cgA	p.R847R	EIF2AK4_uc010bbj.1_Silent_p.R548R|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	847	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGATTCACCGGGATTTGAAGC	0.378												
NEDD4	4734	broad.mit.edu	37	15	56208834	56208834	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:56208834C>T	uc002adj.3	-	0	496	c.196G>A	c.(196-198)Gtt>Att	p.V66I	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.V66I|NEDD4_uc010ugj.2_Missense_Mutation_p.V66I|NEDD4_uc010bfm.3_Missense_Mutation_p.V66I|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	66					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGAGACTGAACGTTTTCCTTT	0.408												
SCNN1G	6340	broad.mit.edu	37	16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:23226531G>A	uc002dlm.1	+	12	1830	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	564					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.R564H(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587												
CHD9	80205	broad.mit.edu	37	16	53289572	53289572	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:53289572A>G	uc002ehb.3	+	17	4254	c.4090A>G	c.(4090-4092)Att>Gtt	p.I1364V	CHD9_uc002egy.3_Missense_Mutation_p.I1364V|CHD9_uc002ehc.3_Missense_Mutation_p.I1364V|CHD9_uc002ehf.3_Missense_Mutation_p.I478V|CHD9_uc002ehg.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1364					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			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)				TTATGGTGCTATTATGGAGGA	0.348												
CDH16	1014	broad.mit.edu	37	16	66946751	66946751	+	Silent	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:66946751G>T	uc002eql.3	-	9	1292	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	CDH16_uc010cdy.3_Silent_p.P366P|CDH16_uc021tjx.1_Silent_p.P366P|CDH16_uc002eqm.3_Silent_p.P269P	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	366	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGGGGAGCCGGGGGCATCTG	0.612												
PLCG2	5336	broad.mit.edu	37	16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:81968079G>A	uc002fgt.3	+	25	2963	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	929					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.I928I(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478												
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:39274416C>T	uc002hvz.3	-	0	191	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)|p.R51K(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)			GCACTGGGGCCTGCAGCAGCT	0.672												
AOC4	90586	broad.mit.edu	37	17	41019767	41019767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:41019767C>T	uc002ibw.1	+	0	606	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		GACTGTGGAGCGTCATGGAGG	0.612												
HEXIM2	124790	broad.mit.edu	37	17	43246862	43246862	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:43246862C>T	uc002iik.1	-	1		c.1358G>A			HEXIM2_uc002iih.1_Nonsense_Mutation_p.R183*|HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGGGCGGGGCCGAGCGCACGG	0.647												
TEX2	55852	broad.mit.edu	37	17	62272375	62272375	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:62272375C>A	uc002jed.3	-	2	1876	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	TEX2_uc002jec.3_Missense_Mutation_p.E575D|TEX2_uc002jee.3_Missense_Mutation_p.E575D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	575					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGGTTCCACCCTCAAGTCGAA	0.423												
MUC16	94025	broad.mit.edu	37	19	9085127	9085127	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9085127A>G	uc002mkp.3	-	0	6892	c.6688T>C	c.(6688-6690)Tcc>Ccc	p.S2230P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2230	Ser-rich.|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						GCTACTGTGGACAAGCCAGGT	0.488												
OR7G2	390882	broad.mit.edu	37	19	9213088	9213088	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9213088A>T	uc010xkk.2	-	0	895	c.895T>A	c.(895-897)Tat>Aat	p.Y299N		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AACACAGAATACATCACTGAA	0.453												
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:12430217delA	uc002mtp.3	-	3	860	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393												
PKN1	5585	broad.mit.edu	37	19	14574778	14574778	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:14574778C>T	uc002myp.3	+	10	1802	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	PKN1_uc002myq.3_Missense_Mutation_p.T551M	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	545					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCCCGGACCACGGGGTAAGGA	0.672												
TMEM59L	25789	broad.mit.edu	37	19	18731283	18731283	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:18731283G>A	uc002njy.4	+	7	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	322						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						ACCCGCCGCCGTCCCACGCCT	0.642												
ZNF135	7694	broad.mit.edu	37	19	58579144	58579144	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:58579144T>G	uc002qrg.3	+	3	1367	c.1364T>G	c.(1363-1365)aTt>aGt	p.I455S	ZNF135_uc002qre.3_Missense_Mutation_p.I431S|ZNF135_uc002qrf.3_Missense_Mutation_p.I389S|ZNF135_uc010yhq.2_Missense_Mutation_p.I443S|ZNF135_uc010yhr.2_Missense_Mutation_p.I252S|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	443					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATCGGAGGATTCACACAGGA	0.547												
SRD5A2	6716	broad.mit.edu	37	2	31756490	31756490	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:31756490T>C	uc002rnw.1	-	3	566	c.495A>G	c.(493-495)atA>atG	p.I165M		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	166					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCTGGCGCAATATATAGTCAC	0.433												
TTN	7273	broad.mit.edu	37	2	179452825	179452825	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:179452825C>A	uc021vsy.1	-	253	55830	c.55605G>T	c.(55603-55605)atG>atT	p.M18535I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M12230I|TTN_uc021vta.1_Missense_Mutation_p.M12163I|TTN_uc021vtb.1_Missense_Mutation_p.M12038I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19462	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G18534G(1)		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)			TTTTTGGTCTCATTTCCACAA	0.453												
ABCG1	9619	broad.mit.edu	37	21	43708133	43708133	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr21:43708133C>T	uc011aev.2	+	8	1215	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	ABCG1_uc002zam.3_Missense_Mutation_p.R348W|ABCG1_uc002zan.3_Missense_Mutation_p.R372W|ABCG1_uc002zao.3_Missense_Mutation_p.R367W|ABCG1_uc002zap.3_Missense_Mutation_p.R370W|ABCG1_uc002zaq.3_Missense_Mutation_p.R370W|ABCG1_uc002zar.3_Missense_Mutation_p.R381W|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	370					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			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)	TCTTTGGCACCGGCCCTCTGA	0.577												
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr21:46011400G>A	uc002zfm.3	-	0	987	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	322	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S322S(10)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692												
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	Missense_Mutation	SNP	G	G	A	rs140118179	by1000genomes	TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr22:21829507G>A	uc002zuv.4	-	13	3895	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.											endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542												
SREBF2	6721	broad.mit.edu	37	22	42276831	42276831	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr22:42276831C>T	uc003bbi.3	+	9	2042	c.1873C>T	c.(1873-1875)Cgc>Tgc	p.R625C	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	625					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			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						GAACGTGATCCGCTACAGCCT	0.647												
CNTN4	152330	broad.mit.edu	37	3	3078881	3078881	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:3078881G>T	uc003bpc.3	+	17	2300	c.1961G>T	c.(1960-1962)gGg>gTg	p.G654V	CNTN4_uc003bpb.1_Missense_Mutation_p.G325V|CNTN4_uc021wsg.1_Missense_Mutation_p.G654V|CNTN4_uc003bpd.1_Missense_Mutation_p.G654V|CNTN4_uc003bpe.3_Missense_Mutation_p.G326V|CNTN4_uc003bpf.3_Missense_Mutation_p.G325V|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	654	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTCATTGATGGGAAGACATTC	0.483												
ABCC5	10057	broad.mit.edu	37	3	183665250	183665250	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:183665250C>T	uc003fmg.3	-	22	3441	c.3276G>A	c.(3274-3276)acG>acA	p.T1092T	ABCC5_uc011bqt.2_Silent_p.T620T|ABCC5_uc010hxl.3_Silent_p.T1049T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1092	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCATCGCACACGTAAACAAAA	0.532												
ADRA2C	152	broad.mit.edu	37	4	3768581	3768581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:3768581G>A	uc003ghm.3	+	0	286	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	83					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CGGGCGCTGCGCGCGCCACAG	0.677												
UGT2B28	54490	broad.mit.edu	37	4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:70148376C>A	uc003hej.3	+	1	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_uc010ihr.3_Missense_Mutation_p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	289					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAACCCCTACCTAAGGTAAAC	0.383												
FGB	2244	broad.mit.edu	37	4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:155490927C>T	uc003ioa.4	+	6	1259	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_uc010ipv.3_Missense_Mutation_p.T348M	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423												
GRIA2	2891	broad.mit.edu	37	4	158234012	158234012	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:158234012C>T	uc003ipm.4	+	3	1110	c.651C>T	c.(649-651)aaC>aaT	p.N217N	GRIA2_uc011cit.2_Silent_p.N170N|GRIA2_uc021xtr.1_Silent_p.N217N|GRIA2_uc003ipl.4_Silent_p.N217N|GRIA2_uc003ipk.4_Silent_p.N170N|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	217					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N217N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATAAAGTAAACGACATTGTAG	0.373												
RAPGEF2	9693	broad.mit.edu	37	4	160251077	160251077	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:160251077T>G	uc003iqg.4	+	5	1044	c.734T>G	c.(733-735)gTt>gGt	p.V245G		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	245					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATGCAAAAAGTTGAAGAGGAA	0.398												
SORBS2	8470	broad.mit.edu	37	4	186545050	186545050	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:186545050G>A	uc003iyg.3	-	12	1895	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.P607P|SORBS2_uc003iyl.3_Silent_p.P507P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.P411P|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	507						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATGCGTGTGGGCACCATGT	0.572												
DNAH5	1767	broad.mit.edu	37	5	13916467	13916467	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:13916467A>G	uc003jfd.2	-	8	1229	c.1187T>C	c.(1186-1188)cTg>cCg	p.L396P	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	396	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTACAAACAGAGATGTGAT	0.323									Kartagener syndrome			
HEATR7B2	133558	broad.mit.edu	37	5	41049516	41049516	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:41049516G>T	uc003jmj.4	-	13	1857	c.1367C>A	c.(1366-1368)aCt>aAt	p.T456N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.T11N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	456							binding	p.T456N(4)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TACCACAAAAGTCAGGATCCT	0.458												
OR2Y1	134083	broad.mit.edu	37	5	180166818	180166818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:180166818G>A	uc003mmf.1	-	0	241	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATCAGGAGCTGGGGCACG	0.587												
SNRNP48	154007	broad.mit.edu	37	6	7602909	7602909	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:7602909G>T	uc003mxr.3	+	5	708	c.649G>T	c.(649-651)Gat>Tat	p.D217Y	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	217					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAAGTACGAGATTATAAAAG	0.308												
LGSN	51557	broad.mit.edu	37	6	63990671	63990671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:63990671C>T	uc003peh.3	-	3	819	c.785G>A	c.(784-786)aGg>aAg	p.R262K	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	262					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTGACCAGGCCTGGTAGAGGA	0.433												
CCDC170	80129	broad.mit.edu	37	6	151914390	151914390	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:151914390C>T	uc003qol.3	+	7	1531	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	481																	GAGAACAAGACCATTGCCCAC	0.423												
KLHL7	55975	broad.mit.edu	37	7	23163411	23163411	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:23163411G>A	uc003svs.4	+	1	429	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	KLHL7_uc003svr.4_Missense_Mutation_p.V24M|KLHL7_uc011jys.2_Intron|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_5'UTR|KLHL7_uc003svp.3_Missense_Mutation_p.V24M|KLHL7_uc003svq.3_Missense_Mutation_p.V46M|KLHL7_uc011jyu.2_Missense_Mutation_p.V24M	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	46	BTB.					Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTGTGACGTGATCCTCAT	0.373												
MRPL32	64983	broad.mit.edu	37	7	42977165	42977165	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:42977165C>T	uc003tia.3	+	2	604	c.557C>T	c.(556-558)aCc>aTc	p.T186I	MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	186					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	p.F185F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCCTGGTTCACCCAGAATTGA	0.418												
WBSCR17	64409	broad.mit.edu	37	7	70886068	70886068	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:70886068C>T	uc003tvy.3	+	4	939	c.939C>T	c.(937-939)gcC>gcT	p.A313A	WBSCR17_uc003tvz.3_Silent_p.A12A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	313						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D312D(2)|p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGGGACGCCGGAGACCCTT	0.597												
GRM3	2913	broad.mit.edu	37	7	86468552	86468552	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:86468552C>T	uc003uid.3	+	3	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.D446D|GRM3_uc010leh.3_Silent_p.D166D	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	574					synaptic transmission	integral to plasma membrane		p.E573K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGGAAGACGCCTGGGCCA	0.498												
COL1A2	1278	broad.mit.edu	37	7	94054953	94054953	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:94054953G>A	uc003ung.1	+	42	3284	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	938					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.R938H(4)|p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCCAGGTCGCGATGGTCAA	0.488										HNSCC(75;0.22)		
FZD6	8323	broad.mit.edu	37	8	104342147	104342147	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:104342147G>A	uc003ylh.3	+	5	2096	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FZD6_uc011lhn.2_Silent_p.A570A|FZD6_uc003ylj.3_Silent_p.A602A|FZD6_uc011lho.2_Silent_p.A297A|FZD6_uc011lhp.2_Silent_p.A547A	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	602					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGGTGAAAGCGGACGGAGCTA	0.512												
C8orf76	84933	broad.mit.edu	37	8	124243741	124243743	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:124243741_124243743delAAG	uc003yqc.2	-	3	664_666	c.612_614delCTT	c.(610-615)ttcttt>ttt	p.204_205FF>F	C8orf76_uc003yqd.3_In_Frame_Del_p.172_173FF>F	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	204							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAGTGTGGAAAGAAGGATTTGA	0.433												
EPPK1	83481	broad.mit.edu	37	8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:144940328C>T	uc003zaa.1	-	0	7107	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2365						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2364Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692												
TEK	7010	broad.mit.edu	37	9	27158007	27158007	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:27158007T>A	uc011lno.2	+	1	673	c.231T>A	c.(229-231)gaT>gaA	p.D77E	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc003zqi.4_Missense_Mutation_p.D77E|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	77	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.D77E(2)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTCAAGATGTGACCAGAG	0.493												
TGFBR1	7046	broad.mit.edu	37	9	101908855	101908855	+	Missense_Mutation	SNP	G	G	A	rs146549837		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:101908855G>A	uc004azc.3	+	6	1295	c.1219G>A	c.(1219-1221)Gta>Ata	p.V407I	TGFBR1_uc004azd.3_Missense_Mutation_p.V330I|TGFBR1_uc004aze.3_Missense_Mutation_p.V411I|TGFBR1_uc011lvc.2_Missense_Mutation_p.V338I|5S_rRNA_uc022bkv.1_5'Flank	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	407	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATGGGCTTAGTATTCTGGGA	0.398												
ORM1	5005	broad.mit.edu	37	9	117092750	117092750	+	Silent	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:117092750C>A	uc004bil.3	+	1	267	c.151C>A	c.(151-153)Cga>Aga	p.R51R	ORM1_uc011lxo.2_Intron	NM_000608	NP_000599	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 2 (ORM2), mRNA.	51					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ATCGGCCTTTCGAAACGAGGA	0.498