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
ZBTB33	10009	broad.mit.edu	37	X	119388487	119388487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:119388487C>A	ENST00000326624.2	+	2	1445	c.1217C>A	c.(1216-1218)tCa>tAa	p.S406*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S406*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	406					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCGTAGGATCAAAACATCTA	0.358000													6	111					3.59834e-05	3.82046e-05	1	1	0
BCL9	607	broad.mit.edu	37	1	147092748	147092748	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:147092748G>A	ENST00000234739.3	+	8	3527	c.2787G>A	c.(2785-2787)ccG>ccA	p.P929P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	929	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P929P(2)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCTGCCCCGTCACCTGGAT	0.597000			T	"""IGH@, IGL@"""	B-ALL								4	197					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:16640580T>C	ENST00000546361.2	-	8	1159	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	336	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667000													3	44					0	0	1	0	0
MTHFD2P1	0	broad.mit.edu	37	3	95374357	95374357	+	RNA	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:95374357G>A	ENST00000494840.1	-	0	1504					NR_077228.1																						TGGAATATTGGTCCAAACACT	0.448000													6	148					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113591112	113591112	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:113591112C>T	ENST00000263341.2	-	4	350	c.140G>A	c.(139-141)gGc>gAc	p.G47D	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	47					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TAGCTGGATGCCGCCATCCAG	0.612000													5	150					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41768288	41768288	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr13:41768288C>T	ENST00000379483.3	-	1	414	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	36							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCCTCTGGACCCGTGAAAAAG	0.637000													5	236					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157637	50157637	+	Silent	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:50157637C>A	ENST00000360565.3	+	8	3472	c.3348C>A	c.(3346-3348)gcC>gcA	p.A1116A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1116					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGAAGAAGCCAACCTGGCGA	0.597000													3	51					1	1	1	1	0
LMLN	89782	broad.mit.edu	37	3	197702982	197702982	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:197702982G>A	ENST00000330198.4	+	4	453	c.431_splice	c.e4+1	p.R144_splice	LMLN_ENST00000482695.1_Splice_Site_p.R92_splice|LMLN_ENST00000420910.2_Splice_Site_p.R144_splice|LMLN_ENST00000332636.5_Splice_Site_p.R92_splice	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	144					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTACTTAGCAGGTATGTCACA	0.373000													3	87					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19050538	19050538	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:19050538G>A	ENST00000380527.1	+	1	1167	c.881G>A	c.(880-882)cGg>cAg	p.R294Q		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	294					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CGCAATGCCCGGAAACACTTT	0.483000													4	245					0	0	1	0	0
MINPP1	0	broad.mit.edu	37	10	89311947	89311947	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:89311947G>A	ENST00000371996.4	+	5	1217	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Silent_p.A191A	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	392					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CCCTAACAGCGTACAATTACA	0.428000													5	249					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234788	26234788	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:26234788C>A	ENST00000244534.5	-	1	428	c.374G>T	c.(373-375)gGc>gTc	p.G125V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	125					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGCTGCGCCAGCCTTTTT	0.567000													24	148					9.95505e-16	1.08371e-15	1	1	0
ACO1	48	broad.mit.edu	37	9	32448928	32448928	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:32448928G>A	ENST00000379923.1	+	21	2611	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	ACO1_ENST00000309951.5_Missense_Mutation_p.R802H|ACO1_ENST00000541043.1_Missense_Mutation_p.R703H	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	802					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGCTACGAGCGCATTCACCGC	0.483000													4	126					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58077146	58077146	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:58077146C>G	ENST00000219271.3	+	8	2121	c.1336C>G	c.(1336-1338)Ctg>Gtg	p.L446V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	446	Hemopexin-like 2.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AGAAGCGAACCTGGAGCCCGG	0.632000													9	19					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													5	33					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134967317	134967317	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:134967317G>A	ENST00000398015.3	+	14	3026	c.2656G>A	c.(2656-2658)Gca>Aca	p.A886T	EPHB1_ENST00000493838.1_Missense_Mutation_p.A447T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	886						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGGAACCCGGCAAGTCTCAA	0.552000													3	53					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178402897	178402897	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:178402897A>G	ENST00000264167.4	+	20	2097	c.1951A>G	c.(1951-1953)Atc>Gtc	p.I651V	AGPS_ENST00000409888.1_Missense_Mutation_p.I182V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	651					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CCCCAATAACATCTTTGGAAA	0.353000													7	256					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574671	210574671	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:210574671G>A	ENST00000360351.4	+	12	5272	c.4766G>A	c.(4765-4767)gGt>gAt	p.G1589D	MAP2_ENST00000392194.1_Missense_Mutation_p.G233D|MAP2_ENST00000447185.1_Missense_Mutation_p.G1585D|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.G290D|MAP2_ENST00000361559.4_Missense_Mutation_p.G233D	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1589					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGGAAGAGTGGTACCTCAACA	0.517000													48	73					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923368	24923368	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:24923368C>T	ENST00000329468.2	+	1	2828	c.2354C>T	c.(2353-2355)tCt>tTt	p.S785F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGAAAACCTCTCTCCCCAGT	0.547000													12	340					0	0	1	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859629	31859629	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:31859629G>A	ENST00000334055.3	-	1	126	c.39C>T	c.(37-39)tgC>tgT	p.C13C		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	13						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCCCAGTCTGCAGAAGCTGC	0.562000													5	402					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597000													5	230					0	0	1	0	0
MRC1L1	0	broad.mit.edu	37	10	17949595	17949595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:17949595G>A	ENST00000331429.2	+	28	4062	c.3959G>A	c.(3958-3960)tGg>tAg	p.W1320*																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTGTCAACTGGAACACAGGA	0.393000													53	88					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691074	39691074	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:39691074C>A	ENST00000339852.4	+	5	659	c.637C>A	c.(637-639)Cac>Aac	p.H213N		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	213	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGCTCAGCACCACGTGGCCCC	0.682000													57	97					7.41606e-26	8.17668e-26	1	1	0
DSTN	11034	broad.mit.edu	37	20	17581431	17581431	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:17581431A>C	ENST00000246069.6	+	2	398	c.52A>C	c.(52-54)Atg>Ctg	p.M18L	DSTN_ENST00000543261.1_Start_Codon_SNP_p.M1L|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	18	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						TTTTTATGACATGAAAGTTCG	0.358000													4	99					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121775117	121775117	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:121775117A>T	ENST00000261819.3	-	6	857	c.736T>A	c.(736-738)Ttt>Att	p.F246I	ANAPC5_ENST00000441917.2_Missense_Mutation_p.F147I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.F147I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.F125I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.F246I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGGATTAAATTTCAACAAA	0.358000													63	210					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140130623	140130623	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140130623G>A	ENST00000538474.1	+	13	1779	c.1555G>A	c.(1555-1557)Ggt>Agt	p.G519S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G519S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	519					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGCTGTCGGGGGTCCCCTGGT	0.726000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474811	149474811	+	RNA	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687000													9	32					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322995	233322995	+	Missense_Mutation	SNP	G	G	A	rs151137290		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:233322995G>A	ENST00000295463.3	+	9	1137	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	354					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.D354N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCATGTTCGACGACGCCAT	0.622000													30	75					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212578296	212578296	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:212578296T>C	ENST00000342788.4	-	8	1271	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	ERBB4_ENST00000436443.1_Missense_Mutation_p.K321E|ERBB4_ENST00000402597.1_Missense_Mutation_p.K321E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	321	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTACACATTTTAATCCCATTT	0.363000										TSP Lung(8;0.080)			52	58					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								70	108					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946639	52946639	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:52946639G>A	ENST00000267119.5	-	1	292	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	75	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCACTGGCCCGGCCCCGGCCA	0.642000													48	165					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63009793	63009793	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:63009793G>A	ENST00000561311.1	+	23	3012	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T	TLN2_ENST00000306829.6_Missense_Mutation_p.A928T			Q9Y4G6	TLN2_HUMAN	talin 2	928	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCGCAGCGGCAGC	0.557000													3	18					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507566	219507566	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:219507566T>C	ENST00000411696.2	-	7	4452	c.3673A>G	c.(3673-3675)Att>Gtt	p.I1225V	ZNF142_ENST00000449707.1_Missense_Mutation_p.I1225V			P52746	ZN142_HUMAN	zinc finger protein 142	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGCGGCCAATGCCTGTGTGT	0.577000													81	147					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35060873	35060873	+	Silent	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:35060873T>G	ENST00000358901.6	-	12	2302	c.1407A>C	c.(1405-1407)gtA>gtC	p.V469V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	469					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGGCACCTCTACCACGGTTT	0.562000													15	211					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520053	113520053	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:113520053A>G	ENST00000284601.3	-	4	1162	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	365					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCAGTACATATTTCACCATG	0.388000													4	334					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:18960909G>A	ENST00000262803.5	+	4	759	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.A163T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517000													4	201					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741380	142741380	+	Silent	SNP	A	A	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:142741380A>C	ENST00000473835.2	+	11	984	c.894A>C	c.(892-894)ggA>ggC	p.G298G	U2SURP_ENST00000493598.2_Silent_p.G297G|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	298	RRM.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAGATTTGGACCGTTAGCCA	0.353000													19	131					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48315024	48315024	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:48315024T>G	ENST00000435803.1	+	17	5785	c.5761T>G	c.(5761-5763)Tgg>Ggg	p.W1921G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1921					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGAAATTTTGGCATAAGAT	0.383000													4	297					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101421	3101421	+	Silent	SNP	C	C	T	rs150553361	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:3101421C>T	ENST00000381951.1	+	1	609	c.609C>T	c.(607-609)gtC>gtT	p.V203V		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ACCTAGGGGTCGGCGTTTTCT	0.433000													139	255					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903061	22903061	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:22903061C>T	ENST00000166244.3	+	3	583	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C|EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	171						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R171C(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGGAGGTGCGCAGTGTGGG	0.582000													4	48					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107547732	107547732	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:107547732C>A	ENST00000374736.3	-	49	6984	c.6590G>T	c.(6589-6591)aGc>aTc	p.S2197I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2197					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCGCTTTTTGCTCTGGGAGAG	0.433000													4	156					0.150653	0.152426	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058921	152058921	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:152058921G>A	ENST00000368806.1	-	3	1301	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	413							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTAGTGGCCGAGTTTTTCTG	0.443000													15	321					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42714728	42714728	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:42714728C>A	ENST00000263805.4	-	15	5601	c.5275G>T	c.(5275-5277)Gat>Tat	p.D1759Y	ZNF106_ENST00000565611.1_Missense_Mutation_p.D944Y|ZNF106_ENST00000565660.1_5'UTR|ZNF106_ENST00000565380.1_Missense_Mutation_p.D987Y	NM_022473.1	NP_071918.1			zinc finger protein 106																		ACAAATTTATCCAGGCAAGCA	0.388000													8	101					0.000157383	0.000163072	1	1	0
MSC	9242	broad.mit.edu	37	8	72756362	72756362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:72756362G>A	ENST00000325509.4	-	1	341	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	18					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TACTCCCGCTGCAGCCCCCGA	0.692000													25	36					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	RNA	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343000													10	159					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169383094	169383094	+	Missense_Mutation	SNP	G	G	A	rs35627377		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:169383094G>A	ENST00000511577.1	-	5	609	c.362C>T	c.(361-363)aCg>aTg	p.T121M	DDX60L_ENST00000505890.1_Missense_Mutation_p.T121M|DDX60L_ENST00000260184.7_Missense_Mutation_p.T121M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	121							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGAAAACTCCGTTTGCACATC	0.378000													6	39					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346666	71346666	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:71346666C>T	ENST00000413702.1	+	4	493	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.R69C|MUC7_ENST00000456088.1_Missense_Mutation_p.R69C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	69						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCTGCACAAACGCTGTAGGCC	0.443000													24	106					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967170	46967170	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:46967170G>A	ENST00000264318.3	-	8	1933	c.951C>T	c.(949-951)acC>acT	p.T317T		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	317					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)	AGTCCATGGCGGTAGCATAGG	0.433000													4	150					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129291460	129291460	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:129291460C>T	ENST00000393239.1	-	15	3247	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	PLXND1_ENST00000324093.4_Silent_p.T1023T			Q9Y4D7	PLXD1_HUMAN	plexin D1	1023	IPT/TIG 2.				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						ACATCAGCTCCGTGCAGGGGT	0.632000													5	11					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155269925	155269925	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:155269925C>T	ENST00000392414.3	-	2	267	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	PKLR_ENST00000342741.4_Missense_Mutation_p.V83M	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	83			Missing (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGAGCAGCCACGGGCTCGGAG	0.582000													7	130					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185970471	185970471	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:185970471T>C	ENST00000271588.4	+	27	4340	c.4111T>C	c.(4111-4113)Tcg>Ccg	p.S1371P	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1371P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1371	Ig-like C2-type 11.				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						TACAAATGTGTCGGTGTTGTT	0.348000													47	55					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952872	54952872	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:54952872C>T	ENST00000273286.5	-	3	814	c.652G>A	c.(652-654)Gga>Aga	p.G218R	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	218	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGTCCTTTCCCTTCCAGGTG	0.517000													4	93					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405554	40405554	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:40405554G>A	ENST00000542756.1	-	3	1911	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630C|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	630					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCACCAGGCGGGGCTCTCCA	0.498000													44	393					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356488	140356488	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140356488C>T	ENST00000406427.1	-	32	3987	c.3651G>A	c.(3649-3651)gtG>gtA	p.V1217V	PNPLA7_ENST00000371457.1_Silent_p.V798V|PNPLA7_ENST00000277531.4_Silent_p.V1192V|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1192					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTGGTAGCCCACTTCCTGTG	0.677000													6	15					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:42773954A>G	ENST00000330714.3	+	11	1656	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	491					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433000													7	201					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142359	54142359	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:54142359A>G	ENST00000265572.3	-	4	938	c.641T>C	c.(640-642)tTc>tCc	p.F214S	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.F214S|OPRK1_ENST00000524278.1_Missense_Mutation_p.F125S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	214					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATCATCTGGGAACTGCAAGGA	0.473000													16	48					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177067236	177067236	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:177067236G>A	ENST00000393643.2	+	12	1872	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	WDR17_ENST00000508596.1_Silent_p.G540G|WDR17_ENST00000280190.4_Silent_p.G564G|WDR17_ENST00000507824.2_Silent_p.G547G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	564										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATTTAGTGGGCATACAGCAA	0.388000													4	130					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179297323	179297323	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:179297323C>T	ENST00000356834.3	-	16	2694	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44H|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886H|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	886	EF-hand.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGAACATGCGCCCTGCCAG	0.592000													4	238					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269790	150269790	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:150269790G>A	ENST00000255945.2	+	3	807	c.632G>A	c.(631-633)cGc>cAc	p.R211H	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225H|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATCCAGCGCGTGGTGAGG	0.542000													16	157					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112424079	112424079	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:112424079C>T	ENST00000312814.5	-	2	1362	c.802G>A	c.(802-804)Gtt>Att	p.V268I	TMEM168_ENST00000454074.1_Missense_Mutation_p.V268I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	268						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCAGCAAAAACGACTGAAAGT	0.358000													134	303					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443789	19443789	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:19443789C>A	ENST00000338883.4	-	9	1298	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.L265F|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	433							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTCTTCCCAACAAACTGTTCA	0.413000													3	28					0.115264	0.118008	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20056149	20056149	+	Silent	SNP	T	T	C			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:20056149T>C	ENST00000245957.5	+	6	532	c.456T>C	c.(454-456)acT>acC	p.T152T	C20orf26_ENST00000451767.2_Silent_p.T152T|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.T152T|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	152										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCTCATAACTGTTTTTGACC	0.403000													65	194					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004790	187004790	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:187004790G>A	ENST00000296795.2	+	4	2054	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	TLR3_ENST00000504367.1_Silent_p.T373T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	650	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGATTGCACGTGTGAAAGTA	0.443000													4	197					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88386475	88386475	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:88386475C>G	ENST00000418177.2	-	4	1375	c.1008G>C	c.(1006-1008)tgG>tgC	p.W336C	GRM5_ENST00000393297.1_Missense_Mutation_p.W336C|GRM5_ENST00000305447.4_Missense_Mutation_p.W336C|GRM5_ENST00000455756.2_Missense_Mutation_p.W336C|GRM5_ENST00000305432.5_Missense_Mutation_p.W336C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	336					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATCATCAAACCACTTGACAT	0.478000													20	89					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105942139	105942139	+	Silent	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:105942139G>A	ENST00000357060.3	-	17	2389	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	WDR96_ENST00000278064.2_Silent_p.S689S|WDR96_ENST00000428666.1_Silent_p.S759S	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	758										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTCAGAATCGGATCCCAAAT	0.378000													38	162					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344558	118344558	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:118344558A>G	ENST00000534358.1	+	3	2707	c.2684A>G	c.(2683-2685)aAg>aGg	p.K895R	KMT2A_ENST00000354520.4_Missense_Mutation_p.K895R|KMT2A_ENST00000389506.5_Missense_Mutation_p.K895R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		aaaaggaaaaagggaTCAGAA	0.458000													3	107					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30345320	30345320	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:30345320C>T	ENST00000340513.4	+	3	569	c.41C>T	c.(40-42)tCg>tTg	p.S14L	TPX2_ENST00000300403.6_Missense_Mutation_p.S14L			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	14					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATGCCCCCTCGGATTTCATC	0.398000													11	159					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	507					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296758	28296758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:28296758C>A	ENST00000284987.5	-	8	2528	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	803	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATGACTGTTCCATTGATGTCA	0.433000													8	430					0.000157383	0.000163072	1	1	0
MUC17	140453	broad.mit.edu	37	7	100680099	100680099	+	Missense_Mutation	SNP	C	C	T	rs147751797		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:100680099C>T	ENST00000306151.4	+	3	5466	c.5402C>T	c.(5401-5403)tCg>tTg	p.S1801L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATACCAACCTCGACTCTTAGT	0.507000													72	672					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792960	143792960	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:143792960G>A	ENST00000408949.2	+	1	820	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTGGCAGCGCCATTGTCAT	0.562000													56	407					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134523946	134523946	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:134523946C>T	ENST00000368594.3	+	8	910	c.633C>T	c.(631-633)ggC>ggT	p.G211G	INPP5A_ENST00000368593.3_Silent_p.G211G|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	211					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGGCACTGGGCTACGTGCtgg	0.597000													10	65					0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65369306	65369306	+	Silent	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:65369306C>T	ENST00000432196.2	+	1	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	51	BTB.					cytoplasm				lung(1)|prostate(1)|skin(1)	3						TGCGCCTGGGCGTTCTGAGCG	0.736000													4	7					0	0	1	0	0
ARNT	0	broad.mit.edu	37	1	150801696	150801696	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:150801696C>G	ENST00000358595.5	-	12	1240	c.1040G>C	c.(1039-1041)aGt>aCt	p.S347T	ARNT_ENST00000515192.1_Missense_Mutation_p.S333T|ARNT_ENST00000505755.1_Missense_Mutation_p.S332T|ARNT_ENST00000354396.2_Missense_Mutation_p.S347T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	347					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTGGGAGAACTAGTTACCTG	0.383000			T	ETV6	AML								7	172					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77413493	77413493	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:77413493C>T	ENST00000308488.6	-	6	1083	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RSF1_ENST00000360355.2_Missense_Mutation_p.D230N|RSF1_ENST00000480887.1_Missense_Mutation_p.D9N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	261	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTCTAAATCCATAGGCTGC	0.338000													75	152					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766860	130766860	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:130766860T>A	ENST00000509018.1	-	26	4362	c.4157A>T	c.(4156-4158)gAt>gTt	p.D1386V	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D1399V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D1394V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1394V|FNIP1_ENST00000514667.1_Missense_Mutation_p.D1436V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1386	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTCAAAAAATCCCAGCTTTT	0.453000													9	201					0	0	1	0	0
TMEM183A	92703	broad.mit.edu	37	1	202992124	202992125	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:202992124_202992125delTT	ENST00000367242.3	+	8	1167_1168	c.1087_1088delTT	c.(1087-1089)tfs	p.F363fs		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CGTTCGGCTCTTTGACTGGTGG	0.545													12	96	---	---	---	---					
ARID4B	51742	broad.mit.edu	37	1	235345318	235345319	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:235345318_235345319delCA	ENST00000264183.3	-	20	3412_3413	c.2915_2916delTG	c.(2914-2916)gfs	p.V972fs	ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V972fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V886fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCTCTTCAGCCACAGTCTGCAG	0.500													104	226	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37241030	37241033	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:37241030_37241033delCTCT	ENST00000233099.5	-	27	4330_4333	c.4235_4238delAGAG	c.(4234-4239)gtfs	p.ES1412fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.ES1412fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1412							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGTCGTGGCACTCTCTCGGTACAG	0.451													74	187	---	---	---	---					
INO80B	83444	broad.mit.edu	37	2	74683365	74683367	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:74683365_74683367delAGG	ENST00000233331.7	+	4	600_602	c.506_508delAGG	c.(505-510)aag>a	p.KE169del	INO80B_ENST00000409917.1_In_Frame_Del_p.KE169del|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	169					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GACCTCAAGAAGGAGATCAATGA	0.517													10	139	---	---	---	---					
INSIG2	51141	broad.mit.edu	37	2	118865866	118865867	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:118865866_118865867delAA	ENST00000245787.4	+	6	852_853	c.646_647delAA	c.(646-648)afs	p.K216fs	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	216					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTACGAATGTAAAGTTATCGCA	0.302													15	161	---	---	---	---					
ITM2C	81618	broad.mit.edu	37	2	231729747	231729747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:231729747delA	ENST00000326427.6	+	1	133	c.7delA	c.(7-9)agfs	p.K3fs	ITM2C_ENST00000326407.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000335005.6_Frame_Shift_Del_p.K3fs	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	3					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCCATGGTGAAGATTAGCTT	0.716													2	4	---	---	---	---					
RP11-553L6.2	0	broad.mit.edu	37	3	113951738	113951739	+	RNA	INS	-	-	C	rs60004852	by1000genomes	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:113951738_113951739insC	ENST00000493033.1	+	0	160				RP11-553L6.2_ENST00000481773.1_RNA																							ACTGCCCCCTGCCCCCCCCCCA	0.653													2	4	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058228	114058230	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:114058228_114058230delAAG	ENST00000462705.1	-	12	2450_2452	c.1629_1631delCTT	c.(1627-1632)tca>tc	p.SL543del	ZBTB20_ENST00000393785.2_In_Frame_Del_p.SL543del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.SL616del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.SL543del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	616				S -> F (in Ref. 5; AAH29041).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAATCCTTTAAGGAGAAGGAGC	0.507													59	93	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26426019	26426022	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:26426019_26426022delAGTT	ENST00000342320.4	+	6	725_728	c.549_552delAGTT	c.(547-552)acfs	p.TV183fs	RBPJ_ENST00000504907.1_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.TV182fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.TV162fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.TV184fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	197					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GATCCCAGACAGTTAGTACCAGAT	0.412													29	152	---	---	---	---					
SMAD1	4086	broad.mit.edu	37	4	146474982	146474983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:146474982_146474983insA	ENST00000515385.1	+	6	1586_1587	c.1044_1045insA	c.(1042-1047)ctgtgafs	p.*349fs	SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.*349fs|SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.*349fs			Q15797	SMAD1_HUMAN	SMAD family member 1	349	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCGAATGCCTTAGTGACAGTAG	0.391													12	189	---	---	---	---					
DHX29	54505	broad.mit.edu	37	5	54585244	54585245	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:54585244_54585245delAA	ENST00000251636.5	-	8	1067_1068	c.919_920delTT	c.(919-921)afs	p.L307fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	307							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATGGTCTTCTAAAGTTTCCATT	0.292													21	105	---	---	---	---					
C5orf24	134553	broad.mit.edu	37	5	134190831	134190833	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:134190831_134190833delAAG	ENST00000394976.3	+	2	469_471	c.241_243delAAG	c.(241-243)del	p.K82del	C5orf24_ENST00000435259.2_In_Frame_Del_p.K82del|C5orf24_ENST00000338051.4_In_Frame_Del_p.K82del|C5orf24_ENST00000504727.1_In_Frame_Del_p.K82del	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	82								p.K81N(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTAAAGAAAAAGAAGAATCTCA	0.478													59	106	---	---	---	---					
PCDHB12	0	broad.mit.edu	37	5	140590356	140590356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:140590356delC	ENST00000239450.2	+	1	2066	c.1877delC	c.(1876-1878)acfs	p.T626fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.T289fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		626	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.701													20	198	---	---	---	---					
RGL2	5863	broad.mit.edu	37	6	33266242	33266244	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:33266242_33266244delTCC	ENST00000497454.1	-	2	639_641	c.144_146delGGA	c.(142-147)gaa>ga	p.EE50del	RGL2_ENST00000444031.2_Intron|RGL2_ENST00000437840.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	50					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ctcttcttcttcctcctcctctt	0.631													6	6	---	---	---	---					
ZNF76	7629	broad.mit.edu	37	6	35258096	35258097	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:35258096_35258097insA	ENST00000373953.3	+	6	752_753	c.486_487insA	c.(484-489)gagagcfs	p.S163fs	ZNF76_ENST00000440666.2_Frame_Shift_Ins_p.S137fs|ZNF76_ENST00000339411.5_Frame_Shift_Ins_p.S163fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	163					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AAGTTGGAGACAGAGCATTCCG	0.525													15	519	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													2	4	---	---	---	---					
TRIM73	0	broad.mit.edu	37	7	75028510	75028510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:75028510delT	ENST00000323819.3	+	2	493	c.293delT	c.(292-294)ctfs	p.L98fs	TRIM73_ENST00000447409.2_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000430211.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000437796.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000450434.1_5'UTR	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	98						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CCGCTCAGCCTTTTCTGCGAG	0.667													2	4	---	---	---	---					
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				10	91	---	---	---	---					
RPS3	6188	broad.mit.edu	37	11	75115087	75115089	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:75115087_75115089delTCA	ENST00000531188.1	+	5	436_438	c.374_376delTCA	c.(373-378)ttc>t	p.FI125del	RPS3_ENST00000526608.1_In_Frame_Del_p.FI113del|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_In_Frame_Del_p.FI125del|RPS3_ENST00000524851.1_In_Frame_Del_p.FI125del|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000278572.6_In_Frame_Del_p.FI141del	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	125					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTGCTGCGGTTCATCATGGAGAG	0.488													7	182	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49424957	49424959	+	Splice_Site	DEL	CCT	CCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:49424957_49424959delCCT	ENST00000301067.7	-	39	13528_13530	c.13530_splice	c.e39+1	p.ED4510_splice		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGAGTACTCACCTCCTTGTTGCT	0.606													21	142	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112605711	112605714	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:112605711_112605714delGAAA	ENST00000550722.1	-	71	12173_12176	c.11778_11781delTTTC	c.(11776-11781)tcfs	p.SF3926fs	HECTD4_ENST00000430131.2_Frame_Shift_Del_p.SF3650fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.SF3900fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGAAGTGGCGGAAAGAGCCGCCTG	0.623													31	78	---	---	---	---					
ARL6IP4	51329	broad.mit.edu	37	12	123466320	123466322	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:123466320_123466322delGAA	ENST00000315580.5	+	3	1060_1062	c.732_734delGAA	c.(730-735)ctg>ct	p.LK244del	ARL6IP4_ENST00000412505.2_In_Frame_Del_p.LK102del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.LK225del|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.LK225del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.LK236del|ARL6IP4_ENST00000357866.4_In_Frame_Del_p.LK113del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.LK113del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.LK110del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.LK102del			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	244	Lys-rich.				RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		ggaagaagctgaagaagaagggc	0.596													5	5	---	---	---	---					
KIF26A	26153	broad.mit.edu	37	14	104633229	104633231	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr14:104633229_104633231delGAA	ENST00000315264.7	+	4	918_920	c.540_542delGAA	c.(538-543)agg>ag	p.RK180del	KIF26A_ENST00000423312.2_In_Frame_Del_p.RK319del			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	319					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCCAAGAGGAAGAAGCCCCAC	0.704													5	9	---	---	---	---					
SEMA6D	80031	broad.mit.edu	37	15	48053942	48053943	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:48053942_48053943delTT	ENST00000316364.5	+	7	971_972	c.532_533delTT	c.(532-534)tfs	p.F178fs	SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389425.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000355997.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558816.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.F178fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	178	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTGCCCTCTTTGCTGGTAAG	0.356													18	166	---	---	---	---					
DMXL2	23312	broad.mit.edu	37	15	51772904	51772906	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:51772904_51772906delTCT	ENST00000251076.5	-	24	6684_6686	c.6397_6399delAGA	c.(6397-6399)del	p.R2133del	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_In_Frame_Del_p.R1497del|DMXL2_ENST00000543779.2_In_Frame_Del_p.R2133del	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2133						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGCCTGCAATCTTCTTCTTTCT	0.433													91	207	---	---	---	---					
DNAJA4	55466	broad.mit.edu	37	15	78566734	78566736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:78566734_78566736delAGA	ENST00000394855.3	+	5	929_931	c.701_703delAGA	c.(700-705)gag>g	p.EK234del	DNAJA4_ENST00000446172.2_In_Frame_Del_p.EK178del|DNAJA4_ENST00000394852.3_In_Frame_Del_p.EK205del|DNAJA4_ENST00000343789.3_In_Frame_Del_p.EK205del	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	205					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGATCCGTGAGAAGAAGATTAT	0.576													35	72	---	---	---	---					
ZKSCAN2	342357	broad.mit.edu	37	16	25268072	25268075	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:25268072_25268075delTCTT	ENST00000328086.7	-	1	1177_1180	c.374_377delAAGA	c.(373-378)agfs	p.KE125fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	125	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTCCAGTCTCTTTCTCCAAATG	0.475													71	119	---	---	---	---					
CNTNAP4	85445	broad.mit.edu	37	16	76461496	76461499	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:76461496_76461499delAGTA	ENST00000307431.8	+	5	920	c.535_splice	c.e5+1	p.179_splice	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.179_splice|CNTNAP4_ENST00000478060.1_Splice_Site_p.155_splice|CNTNAP4_ENST00000476707.1_Splice_Site_p.183_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	180					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGTGCATACAGTAAGTGTTTGTT	0.392													13	72	---	---	---	---					
SLC47A2	146802	broad.mit.edu	37	17	19583320	19583322	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:19583320_19583322delCTG	ENST00000350657.5	-	17	1639_1641	c.1465_1467delCAG	c.(1465-1467)del	p.Q489del	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_In_Frame_Del_p.Q511del	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	511						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TCTCTGCTCTCTGCTGCTGCTGC	0.502													8	138	---	---	---	---					
DNAJC7	7266	broad.mit.edu	37	17	40133976	40133978	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:40133976_40133978delCTT	ENST00000457167.4	-	12	1515_1517	c.1279_1281delAAG	c.(1279-1281)del	p.K427del	DNAJC7_ENST00000316603.7_In_Frame_Del_p.K371del|DNAJC7_ENST00000426588.3_In_Frame_Del_p.K371del	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	427	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTCCTTGAACTTCTTCTCCTCC	0.458													17	145	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56569912	56569913	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:56569912_56569913delCA	ENST00000323456.5	-	18	3493_3494	c.3369_3370delTG	c.(3367-3372)tgacfs	p.CD1123fs	MTMR4_ENST00000579925.1_Frame_Shift_Del_p.CD1066fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1123						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTCACAGTCACAGTTATAGC	0.460													34	572	---	---	---	---					
TEX2	55852	broad.mit.edu	37	17	62238162	62238164	+	Splice_Site	DEL	CTT	CTT	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:62238162_62238164delCTT	ENST00000258991.3	-	8	2906_2908	c.2825_splice	c.e8+1	p.EG941_splice	TEX2_ENST00000584379.1_Splice_Site_p.EG934_splice|TEX2_ENST00000583097.1_Splice_Site_p.EG934_splice			Q8IWB9	TEX2_HUMAN	testis expressed 2	934					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCCCCTTACCCTTCTTTGCCAAT	0.458													7	653	---	---	---	---					
HAO1	54363	broad.mit.edu	37	20	7866234	7866234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:7866234delC	ENST00000378789.3	-	7	1027	c.976delG	c.(976-978)agfs	p.E326fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	326	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.E326*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACACCTTTCTCCCCCTAACCA	0.363													8	110	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39932273	39932274	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:39932273_39932274insT	ENST00000342274.4	-	4	2687_2688	c.2325_2326insA	c.(2323-2328)ttatccfs	p.S776fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.S776fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.S776fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.S776fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	776					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACATCTGGATGTAACTTGGTGC	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						55	225	---	---	---	---