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
TMEM54	113452	broad.mit.edu	37	1	33363847	33363847	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:33363847C>G	ENST00000373463.3	-	2	209	c.90G>C	c.(88-90)gtG>gtC	p.V30V	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.V30V	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	30						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGATGAAGCTCACATGGCCCA	0.612000													23	64					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29917011	29917011	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:29917011T>C	ENST00000490103.1	-	13	1375	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S	THOC5_ENST00000397872.1_Missense_Mutation_p.N418S|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Missense_Mutation_p.N418S|THOC5_ENST00000397871.1_Missense_Mutation_p.N418S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	418					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGATACTGATTGGCTGGATT	0.463000													67	153					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62173828	62173828	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:62173828C>T	ENST00000217188.1	-	4	792	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	251	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGCAGGGAGCCCAGCCACAG	0.672000													10	24					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79477994	79477994	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:79477994T>C	ENST00000575842.1	-	4	1369	c.943A>G	c.(943-945)Aag>Gag	p.K315E	ACTG1_ENST00000575087.1_Missense_Mutation_p.K315E|ACTG1_ENST00000573283.1_Missense_Mutation_p.K315E|ACTG1_ENST00000331925.2_Missense_Mutation_p.K315E			P63261	ACTG_HUMAN	actin, gamma 1	315					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GTGATCTCCTTCTGCATCCTG	0.632000													36	66					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145624217	145624217	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:145624217G>A	ENST00000349769.3	-	17	1684	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	530					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CATAGCAGCCGGGAAGCTCAA	0.637000													6	159					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109095087	109095087	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:109095087C>G	ENST00000261401.3	-	2	180	c.8G>C	c.(7-9)cGa>cCa	p.R3P	CORO1C_ENST00000541050.1_Missense_Mutation_p.R3P|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000549772.1_Missense_Mutation_p.R9P|CORO1C_ENST00000420959.2_Missense_Mutation_p.R56P	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	3					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TCGTACCACTCGCCTCATCGT	0.428000													39	72					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63354444	63354444	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:63354444G>C	ENST00000357980.4	+	8	875	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	TPM1_ENST00000317516.7_Missense_Mutation_p.E188Q|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.E224Q|TPM1_ENST00000288398.6_Missense_Mutation_p.E224Q|TPM1_ENST00000267996.7_Missense_Mutation_p.E224Q|TPM1_ENST00000560959.1_Missense_Mutation_p.E188Q|TPM1_ENST00000358278.3_Missense_Mutation_p.E224Q|TPM1_ENST00000403994.3_Missense_Mutation_p.E224Q|TPM1_ENST00000559397.1_Missense_Mutation_p.E224Q|TPM1_ENST00000404484.4_Missense_Mutation_p.E188Q|TPM1_ENST00000559281.1_Missense_Mutation_p.E188Q|TPM1_ENST00000334895.5_Missense_Mutation_p.E188Q			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	224					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						ATATGAGGAAGAGATCAAGGT	0.433000													28	69					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86672272	86672272	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr5:86672272C>G	ENST00000456692.2	+	16	1658	c.1543C>G	c.(1543-1545)Ctc>Gtc	p.L515V	RASA1_ENST00000274376.6_Missense_Mutation_p.L692V|RASA1_ENST00000506290.1_Missense_Mutation_p.L526V|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.L525V	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	692	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATGGTTTCTGCTCAGCTCCCA	0.423000													12	17					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418882	23418882	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23418882C>T	ENST00000302291.4	-	4	2674	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	LUZP1_ENST00000418342.1_Missense_Mutation_p.E625K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E625K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E625K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	625						nucleus		p.E625Q(1)		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)		TTAACCCCTTCTTTATGTGAG	0.468000													80	160					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104731737	104731737	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731737G>A	ENST00000334877.4	+	15	2232	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q	KMT2E_ENST00000476671.1_Silent_p.Q566Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Silent_p.Q566Q|KMT2E_ENST00000257745.4_Silent_p.Q566Q					lysine (K)-specific methyltransferase 2E																		CAGAGGAGCAGATTGCAGAAA	0.378000													5	28					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47717003	47717003	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:47717003G>C	ENST00000254480.5	-	18	1920	c.1801C>G	c.(1801-1803)Ctc>Gtc	p.L601V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	601					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCAGTACGGAGACCAAAGTTC	0.378000													16	36					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													3	31					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66794183	66794183	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:66794183C>G	ENST00000307961.6	-	5	581	c.489G>C	c.(487-489)aaG>aaC	p.K163N	RPL4_ENST00000568588.1_Missense_Mutation_p.K69N	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	163					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CTTCCTTGGTCTTCTTGTAGC	0.383000													31	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430575	179430575	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:179430575C>T	ENST00000589042.1	-	326	80508	c.80284G>A	c.(80284-80286)Gaa>Aaa	p.E26762K	TTN_ENST00000460472.2_Missense_Mutation_p.E17697K|TTN_ENST00000342175.6_Missense_Mutation_p.E17889K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25121K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24194K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17822K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25121	Ig-like 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCAAATTCATTTTCAGCC	0.433000													73	187					0	0	1	0	0
NUDT15	55270	broad.mit.edu	37	13	48611984	48611984	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:48611984G>C	ENST00000258662.2	+	1	282	c.102G>C	c.(100-102)agG>agC	p.R34S	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	34	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		TGGGGAAGAGGAAAGGCTCGG	0.682000											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886477	3886477	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:3886477G>A	ENST00000319331.3	+	2	913	c.152G>A	c.(151-153)aGa>aAa	p.R51K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	51	LRRNT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAACTTACAGAGAAGCCACC	0.438000													37	92					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95165854	95165854	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:95165854G>A	ENST00000325885.5	+	4	1155	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	362					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCCGATGATGACTTGGAGGT	0.388000													13	37					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													9	48					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928871	20928871	+	Translation_Start_Site	SNP	G	G	A	rs150985847		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:20928871G>A	ENST00000554028.1	-	0	30				TMEM55B_ENST00000398020.4_Silent_p.N99N|TMEM55B_ENST00000250489.4_Silent_p.N92N			Q86T03	TM55B_HUMAN	transmembrane protein 55B							integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TGCCTTCCACGTTGATGAGAG	0.527000													32	84					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25990544	25990544	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:25990544G>C	ENST00000435504.4	-	8	976	c.683C>G	c.(682-684)tCa>tGa	p.S228*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S200*|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	228	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGAGTTTGAGTTTTGAGG	0.413000													36	47					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371243	131371243	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371243G>A	ENST00000358161.5	+	35	4695	c.4582G>A	c.(4582-4584)Gag>Aag	p.E1528K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1528K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1528K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1528					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGGCGCAATGAGGTCTTGGA	0.572000													37	64					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848628	92848628	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:92848628T>A	ENST00000394468.2	-	2	293	c.216A>T	c.(214-216)agA>agT	p.R72S	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R60S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R95S|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.R60S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	72						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTGTGTGGGGTCTCTCAAATA	0.498000													32	60					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43897508	43897508	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:43897508G>A	ENST00000291536.3	-	7	787	c.620C>T	c.(619-621)cCa>cTa	p.P207L	RSPH1_ENST00000398352.3_Missense_Mutation_p.P169L	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	207					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TTTCCATTTTGGAACAACAGT	0.453000													30	61					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43535299	43535299	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:43535299C>G	ENST00000282041.5	-	2	103	c.69G>C	c.(67-69)aaG>aaC	p.K23N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	23					autophagy					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						CATACTTCTTCTTTTCCTAAA	0.353000													12	12					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967082	46967082	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:46967082G>C	ENST00000264318.3	-	8	2021	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	347					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTCCATTTGAATATTGGTG	0.478000													26	68					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	46					0	0	1	0	0
PHOSPHO1	162466	broad.mit.edu	37	17	47302012	47302012	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:47302012G>A	ENST00000413580.1	-	3	892	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.R134C|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.R159C	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	134					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	CCGGCGGCGCGCAGCGAGCTC	0.657000													3	6					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626242	50626242	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:50626242C>G	ENST00000216373.5	-	10	2033	c.1759G>C	c.(1759-1761)Gaa>Caa	p.E587Q	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.E554Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	587					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AAGTTGTCTTCAAAAACAATG	0.338000													44	85					0	0	1	0	0
C15orf37	283687	broad.mit.edu	37	15	80215418	80215418	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:80215418G>T	ENST00000560255.1	+	1	306	c.303G>T	c.(301-303)ggG>ggT	p.G101G	ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000485386.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron					chromosome 15 open reading frame 37											kidney(1)|lung(1)|stomach(1)	3						CGACCAGAGGGATCCTCCGGG	0.716000													8	11					0.000157383	0.00016096	1	1	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31712335	31712335	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:31712335G>A	ENST00000493662.2	+	8	767	c.711G>A	c.(709-711)gtG>gtA	p.V237V	MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Silent_p.V220V|MSH5_ENST00000431848.2_5'UTR|MSH5_ENST00000375755.3_Silent_p.V220V|MSH5_ENST00000375750.3_Silent_p.V220V|MSH5_ENST00000534153.4_Silent_p.V237V|MSH5_ENST00000375742.3_Silent_p.V237V|MSH5_ENST00000375740.3_Silent_p.V237V																							CTCATCTGGTGAACATAGATC	0.463000													33	49					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241951205	241951205	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:241951205C>G	ENST00000366552.2	+	23	2937	c.2730C>G	c.(2728-2730)ctC>ctG	p.L910L	WDR64_ENST00000437684.2_Silent_p.L743L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	910										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGCGAAGGCTCTTTGAATTAT	0.383000													77	105					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849825	54849825	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:54849825G>C	ENST00000291759.4	-	3	253	c.197C>G	c.(196-198)tCa>tGa	p.S66*		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	66	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTCGACATTGAGTTTCCCTC	0.532000													40	110					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53907147	53907147	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:53907147G>A	ENST00000335754.3	-	9	1173	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	ACTR8_ENST00000482349.1_Missense_Mutation_p.S247F|ACTR8_ENST00000231909.7_Missense_Mutation_p.S63F	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	358					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTGAAGCCCAGAGATGTCCTG	0.418000													10	14					0	0	1	0	0
WDR83OS	51398	broad.mit.edu	37	19	12780451	12780451	+	Translation_Start_Site	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:12780451G>C	ENST00000596731.1	-	0	1719				WDR83_ENST00000418543.3_Intron	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN	WD repeat domain 83 opposite strand							integral to membrane											GTTCCAACCCGATCACCGAAA	0.458000													3	4					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7697658	7697658	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:7697658C>G	ENST00000572933.1	+	49	9116	c.7656C>G	c.(7654-7656)atC>atG	p.I2552M	DNAH2_ENST00000389173.2_Missense_Mutation_p.I2552M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2552	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)				TCAACATTATCAACATGACCT	0.592000													29	42					0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241514466	241514466	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:241514466G>T	ENST00000270357.4	+	7	1208	c.615G>T	c.(613-615)ctG>ctT	p.L205L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCAGCCACCTGATGAACCTGT	0.587000													15	112					3.41278e-10	3.51029e-10	1	1	0
WAC	51322	broad.mit.edu	37	10	28903604	28903604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr10:28903604C>T	ENST00000375664.4	+	11	2020	c.1411C>T	c.(1411-1413)Cag>Tag	p.Q471*	WAC_ENST00000375646.1_Nonsense_Mutation_p.Q364*|WAC_ENST00000354911.4_Nonsense_Mutation_p.Q516*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q413*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCGAAGTCTTCAGCGCTCAAG	0.408000													26	53					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385501	65385501	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:65385501A>G	ENST00000355703.3	+	6	1207	c.668A>G	c.(667-669)gAt>gGt	p.D223G		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	223						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTGGCTGGAGATGGAGCGCCC	0.622000													7	8					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													2	1					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131374105	131374105	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131374105G>A	ENST00000358161.5	+	38	4999	c.4886G>A	c.(4885-4887)gGc>gAc	p.G1629D	SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1624D|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1629D			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1624					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCCTGTGCCGGCAGTGAGGAT	0.557000													14	21					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271985	1271985	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:1271985G>A	ENST00000234798.4	-	6	773	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C		NM_012467.3	NP_036599	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	257	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.R257C(1)		liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GCAGGGACACGAGTGTAGACT	0.672000													11	28					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66972297	66972297	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:66972297G>T	ENST00000340001.4	-	38	4966	c.4755C>A	c.(4753-4755)ctC>ctA	p.L1585L	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.L1547L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1585					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGACTGTGAGAGGCTGTACT	0.403000													21	63					3.8784e-16	4.13084e-16	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131378038	131378038	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131378038C>T	ENST00000358161.5	+	41	5389	c.5276C>T	c.(5275-5277)gCc>gTc	p.A1759V	SPTAN1_ENST00000372731.4_Missense_Mutation_p.A1754V|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1759V			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1754					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCATGGCGGCCTCCCGGCGA	0.572000													21	27					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104730618	104730618	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104730618G>A	ENST00000334877.4	+	14	2055	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	KMT2E_ENST00000476671.1_Silent_p.Q507Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Silent_p.Q507Q|KMT2E_ENST00000257745.4_Silent_p.Q507Q					lysine (K)-specific methyltransferase 2E																		CACAAAATCAGAATATTACTT	0.328000													30	65					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39098807	39098807	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:39098807C>T	ENST00000591517.1	-	14	1038	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R337Q|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R333Q|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	337					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCATGTGCCGCCCTAGGGT	0.602000													9	25					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826951	50826951	+	Missense_Mutation	SNP	C	C	T	rs104894699		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:50826951C>T	ENST00000376959.2	-	2	1422	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.R420H			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	420			R -> H (in SCA13; loss of channel activity).		cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCGCAGGATGCGGACGAAGCG	0.657000													12	44					0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1149375	1149375	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:1149375C>T	ENST00000379236.3	-	1	137	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	45					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCCTGCACTCGTGGCAGCAC	0.721000													3	5					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817155	55817155	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:55817155C>T	ENST00000313833.4	+	2	292	c.47C>T	c.(46-48)cCg>cTg	p.P16L	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.P16L	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	16										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAGCACCCCCCGGAAGTCAGC	0.423000													15	45					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15863024	15863024	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15863024G>C	ENST00000375847.3	+	4	453	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	DNAJC16_ENST00000375838.1_Missense_Mutation_p.E97Q|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E97Q	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	97					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGACGCTGGAGAGAACCAGGG	0.363000													31	29					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411641	105411641	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:105411641C>T	ENST00000333244.5	-	7	10266	c.10147G>A	c.(10147-10149)Gag>Aag	p.E3383K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3383						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGCTCCCTCGGGCACGTGG	0.632000													94	225					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661877	8661877	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:8661877A>G	ENST00000270328.4	-	7	1300	c.1034T>C	c.(1033-1035)aTc>aCc	p.I345T	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.I345T			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	345	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCACCGTGTGATGAGCACTGC	0.537000													27	62					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432013	140432013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr5:140432013C>T	ENST00000306549.3	+	1	1035	c.958C>T	c.(958-960)Caa>Taa	p.Q320*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		320	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTGACATTCAAGCTACAGA	0.473000													52	42					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17942675	17942675	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:17942675C>T	ENST00000361221.3	+	9	972	c.813C>T	c.(811-813)ttC>ttT	p.F271F	ARHGEF10L_ENST00000375420.3_Silent_p.F29F|ARHGEF10L_ENST00000452522.1_Silent_p.F232F|ARHGEF10L_ENST00000434513.1_Silent_p.F271F|ARHGEF10L_ENST00000375415.1_Silent_p.F232F|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	271					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGTCTCCTTCCTGCACAGGA	0.622000													33	71					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097866	34097866	+	Silent	SNP	T	T	C	rs140627436	byFrequency	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:34097866T>C	ENST00000341394.4	+	5	639	c.450T>C	c.(448-450)ctT>ctC	p.L150L	CAPRIN1_ENST00000529307.1_Silent_p.L69L|CAPRIN1_ENST00000530820.1_Silent_p.L150L|CAPRIN1_ENST00000532820.1_Silent_p.L150L|CAPRIN1_ENST00000389645.3_Silent_p.L150L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	150					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AAACTGTACTTGAGCTACAGT	0.398000													26	24					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868522	97868522	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:97868522A>C	ENST00000437310.1	+	1	353	c.293A>C	c.(292-294)aAg>aCg	p.K98T		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGAATGCAAGATACAGTTG	0.383000													100	202					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50051848	50051848	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:50051848T>C	ENST00000371564.3	-	8	2128	c.1909A>G	c.(1909-1911)Atg>Gtg	p.M637V	NFATC2_ENST00000609943.1_Missense_Mutation_p.M617V|NFATC2_ENST00000610033.1_Missense_Mutation_p.M418V|NFATC2_ENST00000396009.3_Missense_Mutation_p.M637V|NFATC2_ENST00000609507.1_Missense_Mutation_p.M418V|NFATC2_ENST00000414705.1_Missense_Mutation_p.M617V	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	637					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)					ACAAAAAGCATGTTCTATAAG	0.453000													51	103					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271924	1271924	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:1271924G>C	ENST00000234798.4	-	6	834	c.830C>G	c.(829-831)tCt>tGt	p.S277C		NM_012467.3	NP_036599	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	277					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GGGGTACCCAGACTCTGAGCC	0.657000													10	22					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131374110	131374110	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131374110G>A	ENST00000358161.5	+	38	5004	c.4891G>A	c.(4891-4893)Gag>Aag	p.E1631K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1626K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1631K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1626					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCCGGCAGTGAGGATGCTGT	0.557000													13	19					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:51901070C>T	ENST00000268919.4	+	1	832	c.676C>T	c.(676-678)Cga>Tga	p.R226*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	226	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAACCAGCGAGAGACAAC	0.557000													20	33					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750161	142750161	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:142750161C>A	ENST00000418316.1	+	1	745	c.724C>A	c.(724-726)Cac>Aac	p.H242N		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTGCGGGTCTCACCTCACACT	0.552000													50	120					1.07234e-20	1.14894e-20	1	1	0
APOBEC3H	164668	broad.mit.edu	37	22	39497957	39497957	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:39497957C>T	ENST00000442487.3	+	4	580	c.453C>T	c.(451-453)caC>caT	p.H151H	APOBEC3H_ENST00000348946.4_Silent_p.H151H|APOBEC3H_ENST00000401756.1_Silent_p.H151H|APOBEC3H_ENST00000421988.2_Intron	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	151					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TTGTGGACCACGAGAAACCGC	0.527000													28	52					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156242175	156242175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:156242175G>A	ENST00000361813.5	-	7	793	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	SMG5_ENST00000368267.5_Nonsense_Mutation_p.Q217*	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	217					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GTGCCCAGCTGATTGAAGGGC	0.493000													5	20					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371495	131371495	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371495G>A	ENST00000358161.5	+	36	4803	c.4690G>A	c.(4690-4692)Gag>Aag	p.E1564K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1564K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1564K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1564					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGATGAGATTGAGGCTTGGAT	0.478000													28	21					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156243158	156243158	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:156243158G>C	ENST00000361813.5	-	6	772	c.628C>G	c.(628-630)Cag>Gag	p.Q210E	SMG5_ENST00000368267.5_Missense_Mutation_p.Q210E	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	210					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTACCAATCTGAGGAGCTACT	0.478000													23	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393575	179393575	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:179393575C>T	ENST00000589042.1	-	360	107127	c.106903G>A	c.(106903-106905)Gat>Aat	p.D35635N	TTN_ENST00000460472.2_Missense_Mutation_p.D26570N|TTN_ENST00000342175.6_Missense_Mutation_p.D26762N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33994N|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D33067N|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26695N|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33994							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTCACATCAGTGGCACCA	0.453000													20	34					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116132396	116132396	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:116132396G>C	ENST00000374183.4	+	6	1222	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	395	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCTGTGGCCGATCAGACCAT	0.592000													39	30					0	0	1	0	0
CYB5B	80777	broad.mit.edu	37	16	69458658	69458658	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:69458658C>T	ENST00000512062.1	+	1	231	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CYB5B_ENST00000515314.1_Silent_p.V20V|CYB5B_ENST00000561792.1_Silent_p.V20V|CYB5B_ENST00000307892.8_Silent_p.V24V			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	20	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				AGACCTCAGTCACCTATTACC	0.567000													28	52					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106714	186106714	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:186106714G>A	ENST00000271588.4	+	88	13896	c.13667G>A	c.(13666-13668)tGc>tAc	p.C4556Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.C4556Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4556	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTCGTCTGTGCAACCAGCCC	0.488000													29	37					0	0	1	0	0
MED29	55588	broad.mit.edu	37	19	39883109	39883109	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:39883109G>C	ENST00000315588.5	+	2	334	c.285G>C	c.(283-285)ttG>ttC	p.L95F	MED29_ENST00000594368.1_Missense_Mutation_p.L74F|MED29_ENST00000599213.2_Missense_Mutation_p.L74F	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTAGACCTTGATGAAGGTTG	0.433000													23	46					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661394	4661394	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:4661394C>T	ENST00000357605.2	+	1	450	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GCCGTGGAGTCAGCTGTCCTG	0.547000													37	25					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159445	23159445	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:23159445C>T	ENST00000594710.1	-	4	839	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TTGCCACATTCTTCACATTTG	0.383000													15	40					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789947	133789947	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:133789947G>C	ENST00000321016.8	-	18	3903	c.3673C>G	c.(3673-3675)Cgc>Ggc	p.R1225G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1225G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1225	Pro-rich.					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)		AGGCCCGGGCGAGGCCGGGCA	0.677000													21	45					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23419929	23419929	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23419929C>T	ENST00000302291.4	-	4	1627	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	LUZP1_ENST00000418342.1_Missense_Mutation_p.E276K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E276K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E276K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	276						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)		TTTTCATTTTCTGATTTGTTT	0.403000													7	74					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103357737	103357737	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:103357737G>C	ENST00000520539.1	-	8	1379	c.773C>G	c.(772-774)tCt>tGt	p.S258C	UBR5_ENST00000220959.4_Missense_Mutation_p.S258C|UBR5_ENST00000521922.1_Missense_Mutation_p.S258C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	258				S -> Y (in Ref. 2; AAF88143).	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGGTGGGCAGAATGAATGTC	0.413000													10	25					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30521724	30521724	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:30521724G>A	ENST00000356798.6	+	22	2731	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	ITGAL_ENST00000358164.5_Missense_Mutation_p.E767K|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	851					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCTTCCTGAAGAGTCCAGGCT	0.532000													41	88					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9974314	9974314	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:9974314C>T	ENST00000295981.3	+	17	1841	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.L470L|IL17RC_ENST00000416074.2_Silent_p.L309L|IL17RC_ENST00000413608.1_Silent_p.L470L|IL17RC_ENST00000383812.4_Silent_p.L455L|IL17RC_ENST00000455057.1_Silent_p.L438L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	541						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTGGGCCCTCGTGTGGCTGG	0.532000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	77					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57220365	57220365	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:57220365C>G	ENST00000205214.6	-	8	1403	c.1223G>C	c.(1222-1224)aGa>aCa	p.R408T	AASDH_ENST00000502617.1_Missense_Mutation_p.R408T|AASDH_ENST00000513376.1_Missense_Mutation_p.R308T|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.R255T|AASDH_ENST00000451613.1_Missense_Mutation_p.R408T	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	408					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAACACACTCTGTTTCTGCC	0.373000													12	51					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131377919	131377919	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131377919G>A	ENST00000358161.5	+	41	5270	c.5157G>A	c.(5155-5157)ctG>ctA	p.L1719L	SPTAN1_ENST00000372731.4_Silent_p.L1714L|SPTAN1_ENST00000372739.3_Silent_p.L1719L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1714					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGATCGCCTGAAGGACCTGA	0.542000													16	23					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79928636	79928636	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:79928636G>C	ENST00000438737.2	-	13	2364	c.1924C>G	c.(1924-1926)Cca>Gca	p.P642A	RBM26_ENST00000267229.7_Missense_Mutation_p.P639A|RBM26_ENST00000438724.1_Missense_Mutation_p.P642A			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	642					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GAAGGTACTGGACCCAGCCGC	0.463000													4	77					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362791	55362791	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:55362791G>C	ENST00000290552.7	+	5	2233	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TGCAGCTCGAGAGGGCCGATT	0.657000													23	56					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30198142	30198142	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:30198142G>A	ENST00000397771.2	-	15	1586	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	ASCC2_ENST00000307790.3_Missense_Mutation_p.S470F|ASCC2_ENST00000542393.1_Missense_Mutation_p.S394F			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	470	CUE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGAGATGAGAGAGTCCAGTTC	0.607000													27	46					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23707297	23707297	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:23707297C>T	ENST00000256797.4	-	14	1840	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	ERN2_ENST00000457008.2_Missense_Mutation_p.E458K	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	510	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTGAGTTGCTCAGCTGGGGGA	0.627000													13	24					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390469	45390469	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:45390469G>A	ENST00000371438.1	+	2	556	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RUNX2_ENST00000352853.5_Silent_p.Q134Q|RUNX2_ENST00000465038.2_Silent_p.Q66Q|RUNX2_ENST00000359524.5_Silent_p.Q52Q|RUNX2_ENST00000371432.3_Silent_p.Q52Q|RUNX2_ENST00000371436.6_Silent_p.Q66Q|RUNX2_ENST00000576263.1_Silent_p.Q66Q|RUNX2_ENST00000541979.1_Silent_p.Q134Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	66	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcaacagcagcagcagc	0.731000													3	29					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840563	57840563	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:57840563C>T	ENST00000321545.4	+	4	2078	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCACAGACTTCAGTCAACATC	0.423000													37	62					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661499	4661499	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:4661499C>T	ENST00000357605.2	+	1	555	c.479C>T	c.(478-480)tCt>tTt	p.S160F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S160Y(1)		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)		ATTGGACTATCTGCCCTGACC	0.532000													60	64					0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380387	30380387	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:30380387G>A	ENST00000493196.1	-	4	520	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	140	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GTTTTTGCAGGAATGCAGTCA	0.398000													20	59					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149903264	149903264	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:149903264G>A	ENST00000439741.2	-	13	1428	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L	MTMR11_ENST00000369140.3_Missense_Mutation_p.S321L|MTMR11_ENST00000492824.1_Intron|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	393	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTCGGGGGCTGAAAGCAGCTG	0.562000													41	66					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68716273	68716273	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:68716273C>T	ENST00000264012.4	+	9	1609	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CDH3_ENST00000429102.2_Silent_p.D355D|CDH3_ENST00000581171.1_Silent_p.D300D	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	355	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CTGATCTGGACGCCCCCAACT	0.592000													17	28					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534669	43534669	+	Silent	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:43534669C>G	ENST00000282041.5	-	2	733	c.699G>C	c.(697-699)gtG>gtC	p.V233V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	233					autophagy			p.V233V(1)		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						GCAAGGGTTTCACTGCCACCA	0.483000													41	30					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7843441	7843441	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:7843441G>T	ENST00000380262.3	+	9	2117	c.1192G>T	c.(1192-1194)Gcc>Tcc	p.A398S	CNTROB_ENST00000380255.3_Missense_Mutation_p.A398S|CNTROB_ENST00000565740.1_Missense_Mutation_p.A398S|CNTROB_ENST00000563694.1_Missense_Mutation_p.A398S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	398	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGCCCAGGCCGCCTGGGAGAC	0.532000													31	80					1.06801e-11	1.11123e-11	1	1	0
FARP1	10160	broad.mit.edu	37	13	99083532	99083532	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:99083532G>A	ENST00000376586.2	+	18	2477	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	FARP1_ENST00000319562.6_Missense_Mutation_p.R714Q|FARP1_ENST00000595437.1_Missense_Mutation_p.R714Q			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	714	DH.		R -> L (in a breast cancer sample; somatic mutation).		regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.R714L(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGGACTGCCGAGGTGAGTGC	0.687000													4	3					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255358	70255358	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:70255358C>T	ENST00000342771.4	+	19	3477	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	AUTS2_ENST00000406775.2_Silent_p.I1028I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1052										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGGGCATCAGCCCCCTCC	0.622000													6	23					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967337	87967337	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:87967337C>T	ENST00000369577.3	+	8	4033	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	ZNF292_ENST00000339907.4_Silent_p.F1325F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAAATAACTTCAGTAGCACCA	0.428000													5	12					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327915	16327915	+	Missense_Mutation	SNP	A	A	C	rs11969612	by1000genomes	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:16327915A>C	ENST00000244769.4	-	8	1563	c.627T>G	c.(625-627)caT>caG	p.H209Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H209Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgatgctgctgct	0.667000													3	20					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872226	213872226	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:213872226A>G	ENST00000457361.1	-	8	1607	c.1439T>C	c.(1438-1440)tTc>tCc	p.F480S	IKZF2_ENST00000421754.2_Missense_Mutation_p.F406S|IKZF2_ENST00000374327.4_Missense_Mutation_p.F335S|IKZF2_ENST00000374319.4_Missense_Mutation_p.F454S|IKZF2_ENST00000451136.2_Missense_Mutation_p.F408S|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Missense_Mutation_p.F480S|IKZF2_ENST00000342002.2_Missense_Mutation_p.F486S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATGGTCTAGGAAAAGGACTCG	0.512000													19	119					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371219	131371219	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371219G>A	ENST00000358161.5	+	35	4671	c.4558G>A	c.(4558-4560)Gga>Aga	p.G1520R	SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1520R|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1520R			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1520					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTATGCCAAGGGAGACATTTC	0.552000													46	92					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078651	117078651	+	Silent	SNP	A	A	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:117078651A>T	ENST00000457047.2	-	3	617	c.564T>A	c.(562-564)acT>acA	p.T188T	CD58_ENST00000369487.3_Silent_p.T188T|CD58_ENST00000369489.5_Silent_p.T188T	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	188	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GATTGCTAAGAGTACACTGTA	0.343000													5	118					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821587	97821587	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:97821587G>C	ENST00000297293.5	+	11	2103	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	604					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGTACAGATGAGGACTTCTT	0.517000													19	39					0	0	1	0	0
PSEN1	5663	broad.mit.edu	37	14	73683862	73683862	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr14:73683862C>A	ENST00000324501.5	+	11	1430	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L	PSEN1_ENST00000394164.1_Missense_Mutation_p.F382L|PSEN1_ENST00000357710.4_Missense_Mutation_p.F382L|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000406768.1_Missense_Mutation_p.F294L|PSEN1_ENST00000557511.1_Missense_Mutation_p.F328L|PSEN1_ENST00000261970.3_Missense_Mutation_p.F328L	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	386	Required for interaction with CTNNB1.|Required for interaction with CTNND2.				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGGGAGATTTCATTTTCTACA	0.368000													51	74					5.85753e-14	6.16582e-14	1	1	0
TMEM54	113452	broad.mit.edu	37	1	33363913	33363913	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:33363913C>T	ENST00000373463.3	-	2	143	c.24G>A	c.(22-24)ctG>ctA	p.L8L	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.L8L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	8						integral to membrane		p.L8L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCCCACACTCAGGCCTCCTG	0.617000													12	43					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103357753	103357753	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr8:103357753C>G	ENST00000520539.1	-	8	1363	c.757G>C	c.(757-759)Gat>Cat	p.D253H	UBR5_ENST00000220959.4_Missense_Mutation_p.D253H|UBR5_ENST00000521922.1_Missense_Mutation_p.D253H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	253					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGTCGGCATCAAGGAGAGAC	0.403000													13	25					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12780828	12780828	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:12780828G>A	ENST00000418543.3	+	4	490	c.141G>A	c.(139-141)aaG>aaA	p.K47K	WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Silent_p.K47K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	47					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						GCAGTGACAAGACGCTGAAGC	0.677000													40	96					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116999271	116999271	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:116999271G>A	ENST00000356083.3	+	18	3021	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	877	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGAGCCAGGGGTTGCCAGGG	0.622000													12	10					0	0	1	0	0
PHOSPHO1	162466	broad.mit.edu	37	17	47302265	47302265	+	Silent	SNP	G	G	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:47302265G>T	ENST00000413580.1	-	3	639	c.222C>A	c.(220-222)gcC>gcA	p.A74A	PHOSPHO1_ENST00000310544.4_Silent_p.A49A|PHOSPHO1_ENST00000514112.1_Silent_p.A74A	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	49					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GGCCCGGCGCGGCGCGCACGA	0.667000													3	3					0.150653	0.151495	1	1	0
SELPLG	6404	broad.mit.edu	37	12	109017670	109017670	+	Silent	SNP	G	G	T	rs63748999		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:109017670G>T	ENST00000550948.1	-	2	638	c.414C>A	c.(412-414)ccC>ccA	p.P138P	SELPLG_ENST00000388962.3_Intron|SELPLG_ENST00000228463.6_Silent_p.P154P			Q14242	SELPL_HUMAN	selectin P ligand	138	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).		blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GTGCCTCCGTGGGCACTGGTT	0.612000													29	71					7.26314e-15	7.69039e-15	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129303367	129303367	+	Silent	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:129303367G>C	ENST00000393239.1	-	6	2068	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	PLXND1_ENST00000324093.4_Silent_p.L630L			Q9Y4D7	PLXD1_HUMAN	plexin D1	630					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCATGCCACTGAGGCTGGGCA	0.637000													38	54					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370487	131370487	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370487G>A	ENST00000358161.5	+	34	4536	c.4423G>A	c.(4423-4425)Gac>Aac	p.D1475N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.D1475N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1475N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1475					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGACAAAGGAGACTCACTGGA	0.522000													82	62					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79534448	79534448	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr17:79534448G>C	ENST00000374747.5	-	15	1690	c.1561C>G	c.(1561-1563)Ctg>Gtg	p.L521V	NPLOC4_ENST00000539314.1_Missense_Mutation_p.L360V|NPLOC4_ENST00000331134.6_Missense_Mutation_p.L521V			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	521					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCACCTGCAGAGGCATAACT	0.502000													8	11					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098781	48098781	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr20:48098781G>A	ENST00000371741.4	-	1	403	c.237C>T	c.(235-237)gaC>gaT	p.D79D		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	79					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.D79D(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTCGTTGTCGTCGAGGCTGT	0.647000													16	21					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13246039	13246039	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:13246039G>C	ENST00000292431.4	+	2	144	c.18G>C	c.(16-18)caG>caC	p.Q6H		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	6					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						AGACACTGCAGATGGAGATCC	0.627000													13	38					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120298916	120298916	+	Missense_Mutation	SNP	C	C	G	rs147982337	by1000genomes	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:120298916C>G	ENST00000397843.2	+	8	711	c.545C>G	c.(544-546)tCt>tGt	p.S182C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S163C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S79C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	182					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCTGGAGCATCTGGGAATATG	0.458000			T	MLL	AML								73	117					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951324	46951324	+	Missense_Mutation	SNP	C	C	T	rs56138890		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr21:46951324C>T	ENST00000311124.4	-	3	1080	c.928G>A	c.(928-930)Gat>Aat	p.D310N	SLC19A1_ENST00000485649.2_Missense_Mutation_p.D270N|SLC19A1_ENST00000567670.1_Missense_Mutation_p.D310N|SLC19A1_ENST00000380010.4_Missense_Mutation_p.D310N	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	310					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GAGGCAGCATCTGCCGCGCCG	0.662000													28	78					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTAGGGCATGTGAGCCTGGTC	0.592000													4	59					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30554631	30554631	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr18:30554631C>G	ENST00000383096.3	-	22	2585	c.2403G>C	c.(2401-2403)caG>caC	p.Q801H	CCDC178_ENST00000300227.8_Missense_Mutation_p.Q763H|CCDC178_ENST00000403303.1_Missense_Mutation_p.Q801H|CCDC178_ENST00000583930.1_Missense_Mutation_p.Q825H|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q751H|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q825H|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q801H|CCDC178_ENST00000579916.1_Missense_Mutation_p.Q121H|CCDC178_ENST00000581852.1_Missense_Mutation_p.Q6H					coiled-coil domain containing 178																		GCATCCTTCTCTGCAGCTGAC	0.502000													16	16					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104731744	104731744	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731744G>A	ENST00000334877.4	+	15	2239	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	KMT2E_ENST00000476671.1_Missense_Mutation_p.E569K|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.E569K|KMT2E_ENST00000257745.4_Missense_Mutation_p.E569K					lysine (K)-specific methyltransferase 2E																		GCAGATTGCAGAAAGGAAAAG	0.383000													4	27					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89967083	89967083	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:89967083C>G	ENST00000263346.8	+	12	1318	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C	TCF25_ENST00000263347.7_Missense_Mutation_p.S186C	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	421					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTTGCCTTCTCTGTTCCACTG	0.532000													31	53					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229729	74229729	+	Silent	SNP	A	A	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:74229729A>G	ENST00000316292.9	-	1	1012	c.21T>C	c.(19-21)caT>caC	p.H7H	EEF1A1_ENST00000309268.6_Silent_p.H7H|EEF1A1_ENST00000331523.2_Silent_p.H7H	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	7						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CAATGTTGATATGAGTCTTTT	0.423000													31	52					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418794	23418794	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23418794C>G	ENST00000302291.4	-	4	2762	c.1961G>C	c.(1960-1962)aGa>aCa	p.R654T	LUZP1_ENST00000418342.1_Missense_Mutation_p.R654T|LUZP1_ENST00000314174.5_Missense_Mutation_p.R654T|LUZP1_ENST00000374623.3_Missense_Mutation_p.R654T			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	654						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)		TGGCTTCTCTCTGCCACTGGA	0.483000													79	166					0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44157603	44157603	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:44157603A>T	ENST00000406581.2	-	4	930	c.281T>A	c.(280-282)gTg>gAg	p.V94E	POLD2_ENST00000223361.3_Missense_Mutation_p.V94E|POLD2_ENST00000452185.1_Missense_Mutation_p.V94E	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	94					base-excision repair|DNA strand elongation involved in DNA replication|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	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGAGTGCCCACCACACAGCA	0.622000													37	59					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713996	10713996	+	Silent	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:10713996C>T	ENST00000377022.3	-	11	2435	c.2118G>A	c.(2116-2118)ccG>ccA	p.P706P	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.P706P	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCAGCGAGGGCGGCAGCCCCA	0.667000													17	49					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151262304	151262304	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:151262304G>A	ENST00000368879.2	+	6	2883	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	929	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TTCAGAAGAGGAGGAAGTACC	0.657000													6	3					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131378027	131378027	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131378027G>C	ENST00000358161.5	+	41	5378	c.5265G>C	c.(5263-5265)aaG>aaC	p.K1755N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.K1750N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1755N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1750					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAAGATCAAGAGCATGGCGG	0.567000													24	30					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146747112	146747112	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:146747112C>A	ENST00000369258.4	+	13	1386	c.1366C>A	c.(1366-1368)Cat>Aat	p.H456N	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.H362N|CHD1L_ENST00000369259.3_Missense_Mutation_p.H252N|CHD1L_ENST00000361293.5_Missense_Mutation_p.H175N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	456	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGCCAGGGCTCATCGCATTGG	0.443000													69	72					2.02796e-37	2.18582e-37	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131370245	131370245	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370245G>A	ENST00000358161.5	+	33	4374	c.4261G>A	c.(4261-4263)Gat>Aat	p.D1421N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.D1421N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1421N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1421					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGAAACTTGATATTCTTGA	0.547000													29	18					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542927	133542927	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr2:133542927G>A	ENST00000409261.1	-	14	1830	c.1457C>T	c.(1456-1458)gCa>gTa	p.A486V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A486V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	486							protein binding			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						TTGGAGCAATGCTAAGGTGGA	0.498000													35	79					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104731755	104731755	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:104731755G>A	ENST00000334877.4	+	15	2250	c.1716G>A	c.(1714-1716)agG>agA	p.R572R	KMT2E_ENST00000476671.1_Silent_p.R572R|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Silent_p.R572R|KMT2E_ENST00000257745.4_Silent_p.R572R					lysine (K)-specific methyltransferase 2E																		AAAGGAAAAGGAAGATGGTAA	0.373000													4	23					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				22	9					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681210	142681210	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:142681210G>A	ENST00000340634.3	-	1	968	c.969C>T	c.(967-969)taC>taT	p.Y323Y		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	323						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						ACACCTGGTCGTAGATGCTGA	0.597000													11	108					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15860766	15860766	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15860766G>A	ENST00000375847.3	+	3	366	c.202G>A	c.(202-204)Gac>Aac	p.D68N	DNAJC16_ENST00000375838.1_Missense_Mutation_p.D68N|DNAJC16_ENST00000375849.1_Missense_Mutation_p.D68N	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	68	J.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGAGCAGAAGACAAGTTCAT	0.413000													48	46					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103825676	103825676	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr10:103825676G>A	ENST00000299238.5	+	1	530	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	149						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGCCCGGGCCGAGGGCCCGTC	0.736000									Hermansky-Pudlak syndrome				4	0					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158330750	158330750	+	Silent	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:158330750G>C	ENST00000392185.3	+	8	930	c.759G>C	c.(757-759)gtG>gtC	p.V253V		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	253	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TTGACTGTGTGGTAGCAGATC	0.393000													32	77					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34097867	34097867	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:34097867G>A	ENST00000341394.4	+	5	640	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.E70K|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.E151K|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.E151K|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.E151K	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	151					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AACTGTACTTGAGCTACAGTA	0.403000													25	24					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980624	121980624	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:121980624G>C	ENST00000498619.1	+	4	1180	c.742G>C	c.(742-744)Gat>Cat	p.D248H	CASR_ENST00000296154.5_Missense_Mutation_p.D248H|CASR_ENST00000490131.1_Missense_Mutation_p.D248H	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	248					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGTACTCTGATGAGGAAGA	0.502000													60	157					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27212601	27212601	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:27212601C>G	ENST00000374135.4	-	3	792	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	GPN2_ENST00000374133.3_Missense_Mutation_p.E19Q|GPN2_ENST00000461282.1_5'UTR	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	198							GTP binding	p.E198*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TCCAGAACCTCTGTGTAGTAG	0.502000													15	38					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371429	131371429	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371429G>A	ENST00000358161.5	+	36	4737	c.4624G>A	c.(4624-4626)Gag>Aag	p.E1542K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1542K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1542K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1542					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCAGATGATTGAGAAAAGGTC	0.473000													30	37					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053473	238053473	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:238053473T>G	ENST00000366570.4	-	2	337	c.179A>C	c.(178-180)aAc>aCc	p.N60T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	60					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGCCCTTGGTTGTCTGGAGG	0.562000													53	56					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48732710	48732710	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr3:48732710G>A	ENST00000431721.2	-	3	417	c.180C>T	c.(178-180)ttC>ttT	p.F60F	IP6K2_ENST00000328631.5_Silent_p.F5F|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000449610.1_Silent_p.F5F|IP6K2_ENST00000417896.1_Silent_p.F5F|IP6K2_ENST00000340879.4_Silent_p.F5F|IP6K2_ENST00000443964.1_Silent_p.F64F|IP6K2_ENST00000413298.1_Silent_p.F5F|IP6K2_ENST00000446860.1_Silent_p.F63F|IP6K2_ENST00000453202.1_Silent_p.F5F|IP6K2_ENST00000450045.1_Silent_p.F59F|IP6K2_ENST00000432678.2_Silent_p.F5F	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	5					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCATGGCCCTGAAGGCTGGGC	0.637000													24	26					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998146	46998146	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:46998146C>T	ENST00000599531.1	-	1	1609	c.577G>A	c.(577-579)Gag>Aag	p.E193K	PNMAL2_ENST00000377655.2_Missense_Mutation_p.E193K|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.S86L	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	193										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCCTCGGCCTCACTCCTCGCG	0.647000													20	37					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332827	70332827	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr11:70332827C>T	ENST00000338508.4	-	32	3573	c.3574G>A	c.(3574-3576)Gcg>Acg	p.A1192T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A812T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	812					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGCTGCTCGCGGAGGGCACT	0.706000													15	48					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30863384	30863384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr12:30863384G>A	ENST00000251071.5	-	18	3586	c.2836C>T	c.(2836-2838)Cag>Tag	p.Q946*	CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q612*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q896*|CAPRIN2_ENST00000417045.1_Silent_p.L959L|CAPRIN2_ENST00000395805.2_Silent_p.L904L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	946					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGCTCACCTGAGAAGAATCA	0.448000													88	153					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100154005	100154005	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr13:100154005G>A	ENST00000376387.4	+	1	335	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	49					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTCTGCGACGAAGAAAAAAA	0.647000													30	34					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933433	209933433	+	Missense_Mutation	SNP	G	G	A	rs150331171		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:209933433G>A	ENST00000367024.1	+	3	565	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E17K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E17K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E17K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E17K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	17						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCGGTGGGCTGAGAGCTATGA	0.622000													17	33					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847622	22847622	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:22847622A>C	ENST00000456783.2	+	4	1395	c.1151A>C	c.(1150-1152)aAg>aCg	p.K384T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTACACATAAGAGAATTCAT	0.378000													16	52					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764407	109764407	+	RNA	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chrX:109764407T>C	ENST00000602699.1	+	0	868					NR_002718.2																						ATTTGGATCATGGCCATTTCT	0.488000													4	22					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370275	131370275	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131370275G>C	ENST00000358161.5	+	33	4404	c.4291G>C	c.(4291-4293)Gag>Cag	p.E1431Q	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1431Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1431Q			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1431					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCAGACCTGGAGAAGGCCTG	0.532000													30	28					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986519	15986519	+	Silent	SNP	T	T	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:15986519T>C	ENST00000345034.1	+	1	156	c.156T>C	c.(154-156)gcT>gcC	p.A52A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	52					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACCTAAAGCTGTGAAGGCTT	0.448000													154	179					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3959237	3959237	+	Silent	SNP	G	G	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr19:3959237G>A	ENST00000545797.2	-	9	1470	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	DAPK3_ENST00000301264.3_Silent_p.L409L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	409	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGGCGCTTGAGGCCGCTGG	0.701000													8	9					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100609833	100609833	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:100609833G>C	ENST00000319509.7	+	9	2473	c.2473G>C	c.(2473-2475)Gag>Cag	p.E825Q	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAAATGGTTCGAGACCTGGGA	0.657000													24	115					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23419916	23419916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:23419916delT	ENST00000302291.4	-	4	1640	c.839delA	c.(838-840)aacfs	p.N280fs	LUZP1_ENST00000314174.5_Frame_Shift_Del_p.N280fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.N280fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.N280fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	280						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)		CTGATTGCGGTTCTTTTCATT	0.393													23	94	---	---	---	---					
TM2D1	83941	broad.mit.edu	37	1	62189460	62189461	+	Splice_Site	INS	-	-	A	rs147863719		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr1:62189460_62189461insA	ENST00000371177.2	-	2	177		c.e2-2		TM2D1_ENST00000606498.1_Splice_Site|TM2D1_ENST00000371180.2_Splice_Site|TM2D1_ENST00000294613.5_Intron			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAAATATATGTAAAAAAAAAAG	0.302													2	4	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													8	23	---	---	---	---					
EEF1A1	1915	broad.mit.edu	37	6	74229695	74229696	+	Frame_Shift_Ins	INS	-	-	CGAATCTA			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr6:74229695_74229696insCGAATCTA	ENST00000316292.9	-	1	1045_1046	c.54_55insTAGATTCG	c.(52-57)tcgggcfs	p.G19fs	EEF1A1_ENST00000331523.2_Frame_Shift_Ins_p.G19fs|EEF1A1_ENST00000309268.6_Frame_Shift_Ins_p.G19fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	19						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGACTTGCCCGAATCTACGT	0.416													25	74	---	---	---	---					
STEAP2-AS1	100874100	broad.mit.edu	37	7	89767880	89767881	+	RNA	INS	-	-	G			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr7:89767880_89767881insG	ENST00000478318.2	-	0	424																											AAAACCTTCTCGGCTTGGCGTA	0.490													2	4	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													2	4	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131371153	131371154	+	Splice_Site	INS	-	-	A			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr9:131371153_131371154insA	ENST00000372739.3	+	35	4602_4603	c.4492_4493insA	c.(4492-4494)gaa>gAaa	p.E1498fs	SPTAN1_ENST00000358161.5_Splice_Site_p.E1498fs|SPTAN1_ENST00000372731.4_Splice_Site_p.E1498fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1498					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTTCTGACAGGAAGAGAAGATT	0.540													50	128	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630039	40630040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:40630039_40630040insC	ENST00000397536.2	-	2	105_106	c.70_71insG	c.(70-72)gacfs	p.D24fs	C15orf52_ENST00000559313.1_Frame_Shift_Ins_p.D234fs			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	234										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGGGCATAGTCCCAGCCCGCC	0.693													9	32	---	---	---	---					
SEMA4B	10509	broad.mit.edu	37	15	90771602	90771602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr15:90771602delC	ENST00000411539.2	+	14	2501	c.2241delC	c.(2239-2241)ttcfs	p.F747fs	SEMA4B_ENST00000332496.6_Frame_Shift_Del_p.F747fs|SEMA4B_ENST00000379122.3_Intron	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGAAAGTCTTCCTGAAGCAGG	0.612													16	26	---	---	---	---					
PRSS29P	123787	broad.mit.edu	37	16	1311513	1311514	+	RNA	INS	-	-	GGCA	rs5815085	by1000genomes	TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	g.chr16:1311513_1311514insGGCA	ENST00000568091.1	-	0	1353																											GGTGGGAGCAGGGCAGGCAGGC	0.708													3	4	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-E7-A3X6-01A-12D-A22Z-08	TCGA-E7-A3X6-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d81697c0-54af-4f8a-88c4-36934f163f5f	77e72aa6-bc4a-4382-9a91-4f882d28c906	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	7	---	---	---	---