Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ERBB2	2064	broad.mit.edu	37	17	37876080	37876080	+	Silent	SNP	A	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:37876080A>C	uc002hso.3	+	15	2177	c.1939A>C	c.(1939-1941)Aga>Cga	p.R647R	ERBB2_uc010cwa.3_Silent_p.R632R|ERBB2_uc002hsm.3_Silent_p.R617R|ERBB2_uc002hsp.3_Silent_p.R450R|ERBB2_uc010cwb.3_Silent_p.R647R|ERBB2_uc010wek.2_Silent_p.R371R	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	647					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGCCGAGCAGAGAGCCAGGTT	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				250			45		0	0	0.048971	0	0
PARP4	143	broad.mit.edu	37	13	25067776	25067776	+	Silent	SNP	T	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr13:25067776T>C	uc001upl.3	-	7	943	c.837A>G	c.(835-837)gaA>gaG	p.E279E	PARP4_uc010tdc.2_Silent_p.E279E	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	279	PARP alpha-helical.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAAGCATGTGTTCCAGGTGGC	0.478000														13			4		0	0	0.029380	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239709	65239709	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:65239709G>T	uc002aoa.3	+	12	1276	c.1247G>T	c.(1246-1248)tGg>tTg	p.W416L	ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.W293L	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	416	Death.				signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCTGTGCTGTGGCGGCTGGCC	0.597000														24			10		2.35188e-11	2.59687e-11	0.038395	1	0
LNX1	84708	broad.mit.edu	37	4	54343092	54343092	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:54343092C>T	uc003hag.4	-	8	1976	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.A478T|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	574	PDZ 3.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AATGCCACTGCCTCACTCCGG	0.488000														188			42		0	0	0.036044	0	0
RNF31	55072	broad.mit.edu	37	14	24617213	24617213	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:24617213C>G	uc001wmn.1	+	1	470	c.221C>G	c.(220-222)aCg>aGg	p.T74R	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	74	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTGTCCACGGCTCTGAAC	0.607000														95			46		0	0	0.048971	0	0
AGPAT5	55326	broad.mit.edu	37	8	6614714	6614714	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:6614714T>A	uc003wqo.3	+	7	1212	c.900T>A	c.(898-900)gaT>gaA	p.D300E	AGPAT5_uc011kwm.2_3'UTR	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA.	300					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGTCACCAGATCCAGAAAGAA	0.323000														7			7		0	0	0.038147	0	0
TTBK1	84630	broad.mit.edu	37	6	43251695	43251695	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:43251695C>A	uc003ouq.1	+	13	3496	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M	TTBK1_uc021yzs.1_Missense_Mutation_p.L361M	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	1073						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCAGGCTCACTGTCGGCCAA	0.687000														61			43		2.45108e-15	2.76398e-15	0.033182	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153279661	153279661	+	Nonsense_Mutation	SNP	G	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:153279661G>C	uc001fbn.1	-	1	191	c.138C>G	c.(136-138)taC>taG	p.Y46*		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	46					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTGATGATGTAGGCCACAG	0.622000														38			16		0	0	0.055883	0	0
FAU	2197	broad.mit.edu	37	11	64889268	64889268	+	Silent	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:64889268G>T	uc001ocx.3	-	1	137	c.18C>A	c.(16-18)cgC>cgA	p.R6R	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	6										NS(3)|kidney(1)|large_intestine(2)	6						GCTCCTGGGCGCGGACAAAGA	0.532000														96			28		1.22384e-17	1.39491e-17	0.054565	1	0
EIF5B	9669	broad.mit.edu	37	2	99995867	99995867	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:99995867T>G	uc002tab.3	+	11	2221	c.2037T>G	c.(2035-2037)aaT>aaG	p.N679K		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	679					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGCTATTAATGAACAGACTA	0.343000														5			4		0	0	0.009096	0	0
SGIP1	84251	broad.mit.edu	37	1	67138996	67138996	+	Missense_Mutation	SNP	C	A	A	rs142151342		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:67138996C>A	uc001dcr.3	+	11	810	c.593C>A	c.(592-594)gCt>gAt	p.A198D	SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_5'UTR|SGIP1_uc001dct.3_5'UTR|AK298300_uc010ope.1_Intron|SGIP1_uc009wat.3_5'UTR	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	198	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGGCCCTTGCTCCTCTCTTT	0.363000														162			76		1.02218e-41	1.2599e-41	0.048971	1	0
PEBP1	5037	broad.mit.edu	37	12	118577333	118577333	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:118577333G>A	uc001twu.1	+	2	468	c.323G>A	c.(322-324)gGc>gAc	p.G108D	PEBP1_uc010szc.1_Missense_Mutation_p.G108D	NM_002567	NP_002558	P30086	PEBP1_HUMAN	Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA.	108							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATTATGTGGGCTCGGGGCCT	0.522000														118			79		0	0	0.048971	0	0
ATP4A	495	broad.mit.edu	37	19	36050918	36050918	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:36050918G>T	uc002oal.1	-	6	874	c.845C>A	c.(844-846)gCa>gAa	p.A282E	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	282					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A282T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCAGCGATGCGATGCGCCC	0.647000														155			57		3.7469e-33	4.56519e-33	0.048971	1	0
RARRES1	5918	broad.mit.edu	37	3	158422600	158422600	+	Missense_Mutation	SNP	G	C	C	rs140091959	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:158422600G>C	uc003fci.3	-	3	723	c.652C>G	c.(652-654)Ctc>Gtc	p.L218V	RARRES1_uc003fcj.3_Missense_Mutation_p.L218V	NM_206963	NP_996846	P49788	TIG1_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 1 (RARRES1), transcript variant 1, mRNA.	218					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	ACACTAGTGAGCTGTGCCAAG	0.443000														29			10		0	0	0.069234	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														133			10		0	0	0.058154	0	0
RNF40	9810	broad.mit.edu	37	16	30776526	30776526	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr16:30776526A>T	uc002dzq.3	+	6	1616	c.796A>T	c.(796-798)Aca>Tca	p.T266S	C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.T266S|RNF40_uc010cab.3_Missense_Mutation_p.T266S|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.T266S	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	266					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGATAAAGTGACATCGGCAGA	0.537000														189			67		0	0	0.048971	0	0
ROS1	6098	broad.mit.edu	37	6	117746764	117746764	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:117746764C>G	uc003pxp.1	-	0	255	c.56G>C	c.(55-57)tGc>tCc	p.C19S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	19					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATCCATAGGCAGCCAAGAGT	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									79			38		0	0	0.074837	0	0
GRAMD4	23151	broad.mit.edu	37	22	47068788	47068788	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr22:47068788G>A	uc003bhx.3	+	12	1182	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	GRAMD4_uc010had.3_Missense_Mutation_p.R317H|GRAMD4_uc003bhy.3_5'Flank	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	378					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ATCTTTAAACGCTGCCCGAGG	0.577000														65			37		0	0	0.023175	0	0
ABCA6	23460	broad.mit.edu	37	17	67108373	67108373	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:67108373C>T	uc002jhw.1	-	15	2258	c.2083G>A	c.(2083-2085)Ggt>Agt	p.G695S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	695	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAGAAGAACCTGCACACTTC	0.368000														27			24		0	0	0.021523	0	0
EVC	2121	broad.mit.edu	37	4	5721079	5721079	+	Silent	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:5721079G>A	uc003gil.1	+	1	463	c.279G>A	c.(277-279)tcG>tcA	p.S93S	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	93					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCAGATGTCGAAGGACAAGG	0.512000														213			151		0	0	0.048971	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905645	132905645	+	RNA	SNP	C	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:132905645C>G	uc002tti.3	-	6		c.1246G>C			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						aaTCTTCCCCCTCTTGAATTT	0.368000														0			2		0	0	0.004672	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	T	T	rs367060		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000														41			6		0	0	0.021553	0	0
LEMD2	221496	broad.mit.edu	37	6	33748926	33748926	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:33748926A>C	uc011drm.2	-	3	871	c.858T>G	c.(856-858)aaT>aaG	p.N286K	LEMD2_uc010jvg.3_5'Flank|LEMD2_uc011drl.2_5'UTR	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	286						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CACACTCAAAATTACCTAGGA	0.368000														82			40		0	0	0.039052	0	0
TRAK2	66008	broad.mit.edu	37	2	202262967	202262967	+	Silent	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:202262967G>A	uc002uyb.4	-	5	1037	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TRAK2_uc002uyc.2_Silent_p.F197F	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	197						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGGACTCATTGAACCGAAGAG	0.438000														8			8		0	0	0.047766	0	0
EIF3M	10480	broad.mit.edu	37	11	32623898	32623898	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:32623898A>T	uc001mtu.3	+	10	1121	c.1078A>T	c.(1078-1080)Aat>Tat	p.N360Y	CCDC73_uc001mtv.3_3'UTR|EIF3M_uc010ref.2_Missense_Mutation_p.N228Y	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	360	Interaction with HSV-1 and HSV-2.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CTGGAAACAAAATCTGAACAA	0.328000														11			8		0	0	0.058154	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177251	6177251	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:6177251T>G	uc002mef.1	+	7	977	c.750T>G	c.(748-750)atT>atG	p.I250M	ACSBG2_uc002mee.1_Missense_Mutation_p.I63M|ACSBG2_uc002meg.1_Missense_Mutation_p.I250M|ACSBG2_uc002meh.1_Missense_Mutation_p.I250M|ACSBG2_uc002mei.1_Missense_Mutation_p.I200M|ACSBG2_uc010xiz.1_Missense_Mutation_p.I250M	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	250					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity	p.I250M(6)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACGTGGATTGCAGGAGCAG	0.433000														53			3		0	0	0.014758	0	0
NR2F1	7025	broad.mit.edu	37	5	92929424	92929424	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:92929424C>A	uc003kkj.3	+	2	2835	c.1148C>A	c.(1147-1149)tCc>tAc	p.S383Y	NR2F1_uc021ybj.1_Missense_Mutation_p.S332Y|NR2F1_uc021ybk.1_Missense_Mutation_p.S358Y	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	383					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GTGTCCTCCTCCGTCATCGAG	0.582000														246			108		6.01805e-51	7.59421e-51	0.048971	1	0
CYB5D1	124637	broad.mit.edu	37	17	7762716	7762716	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:7762716C>T	uc002gjb.4	+	3	862	c.473C>T	c.(472-474)tCc>tTc	p.S158F	LSMD1_uc002giz.3_5'Flank|LSMD1_uc002gja.3_5'Flank|CYB5D1_uc021tpi.1_Non-coding_Transcript	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	Homo sapiens cytochrome b5 domain containing 1 (CYB5D1), mRNA.	158							heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				GTTCTGGAGTCCATATGGGAA	0.502000														73			21		0	0	0.069288	0	0
TMX2	51075	broad.mit.edu	37	11	57480106	57480106	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:57480106C>A	uc001nlc.2	+	0	112	c.16C>A	c.(16-18)Cct>Act	p.P6T	CTNND1_uc001nlf.2_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.3_5'Flank|TMX2_uc001nld.2_5'UTR|TMX2_uc001nle.2_Missense_Mutation_p.P6T|TMX2_uc021qji.1_Non-coding_Transcript	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	6					cell redox homeostasis	integral to membrane		p.A5P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGTCTTGGCACCTCTAATTGC	0.592000														41			19		4.4004e-07	4.61824e-07	0.018920	1	0
SERPINA1	5265	broad.mit.edu	37	14	94849213	94849213	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:94849213T>G	uc001ycy.4	-	3	916	c.362A>C	c.(361-363)cAg>cCg	p.Q121P	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.Q121P|SERPINA1_uc010auy.3_Missense_Mutation_p.Q121P|SERPINA1_uc001ycz.4_Missense_Mutation_p.Q121P|SERPINA1_uc010auz.3_Missense_Mutation_p.Q121P|SERPINA1_uc010ava.3_Missense_Mutation_p.Q121P|SERPINA1_uc001ydb.4_Missense_Mutation_p.Q121P|SERPINA1_uc010avb.3_Missense_Mutation_p.Q121P|SERPINA1_uc001ydc.4_Missense_Mutation_p.Q121P|SERPINA1_uc010auw.3_Missense_Mutation_p.Q121P|SERPINA1_uc010aux.3_Missense_Mutation_p.Q121P|SERPINA1_uc001yda.1_Missense_Mutation_p.Q121P	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	121					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GAGGAGTTCCTGGAAGCCTTC	0.572000														86			26		0	0	0.018920	0	0
SIK2	23235	broad.mit.edu	37	11	111590501	111590501	+	Silent	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:111590501C>T	uc001plt.3	+	9	1387	c.1269C>T	c.(1267-1269)gtC>gtT	p.V423V		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	423					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCGTTTAGGTCAATGGCTGTC	0.517000														29			17		0	0	0.049695	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236935	53236935	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:53236935C>A	uc001cuj.3	+	2	635	c.440C>A	c.(439-441)aCt>aAt	p.T147N	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.T138N	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	147							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AATTCATTAACTCTCTCCCTC	0.478000														39			18		4.35082e-09	4.65845e-09	0.055883	1	0
ZSWIM1	90204	broad.mit.edu	37	20	44512145	44512145	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr20:44512145A>T	uc021wem.1	+	0	914	c.914A>T	c.(913-915)aAt>aTt	p.N305I	ZSWIM1_uc010ghi.3_Missense_Mutation_p.N305I	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	305							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GCCCAGAACAATCATGCTCCC	0.542000														207			89		0	0	0.048971	0	0
LOC284100	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:36214775G>T	uc002hom.1	-	1		c.184C>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.									p.T41N(6)		endometrium(6)|kidney(1)	7						CTTGCCAGTGGTAGCTGCTGG	0.353000														14			4		2.56e-06	2.66039e-06	0.009096	1	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713781	32713781	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:32713781C>T	uc003obx.3	+	2	603	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	182	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTCCCTTCTGCTGATGAG	0.502000														149			81		0	0	0.048971	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119220	9119220	+	Silent	SNP	A	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:9119220A>T	uc003jek.2	-	14	2527	c.1815T>A	c.(1813-1815)tcT>tcA	p.S605S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	605	TSP type-1 2.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCTGCAGGGAGACCACGAGG	0.652000														42			17		0	0	0.043863	0	0
KCTD8	386617	broad.mit.edu	37	4	44449785	44449785	+	Silent	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:44449785G>A	uc003gwu.3	-	0	1040	c.756C>T	c.(754-756)ctC>ctT	p.L252L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	252						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGCTCTCGTTGAGCGTGTCCC	0.657000										HNSCC(17;0.042)				44			22		0	0	0.039052	0	0
KCNS2	3788	broad.mit.edu	37	8	99441267	99441267	+	Nonsense_Mutation	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:99441267G>T	uc003yin.3	+	1	1410	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	KCNS2_uc022azb.1_Nonsense_Mutation_p.E354*	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	354						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGAAAAGGAGGAGAACGAGGG	0.577000														127			47		2.24722e-20	2.64673e-20	0.048971	1	0
MLL3	58508	broad.mit.edu	37	7	151882674	151882674	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:151882674T>G	uc003wla.3	-	33	5270	c.5051A>C	c.(5050-5052)aAa>aCa	p.K1684T	MLL3_uc003wkz.3_Missense_Mutation_p.K745T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1684					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGAGCTTGCTTTTCTCCACAA	0.343000			N		medulloblastoma									81			11		0	0	0.013537	0	0
NOLC1	9221	broad.mit.edu	37	10	103917239	103917239	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:103917239C>T	uc001kup.2	+	3	603	c.368C>T	c.(367-369)gCa>gTa	p.A123V	NOLC1_uc001kuo.2_Missense_Mutation_p.A123V|NOLC1_uc001kuq.2_Missense_Mutation_p.A124V|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	123	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GCAGCCAAAGCATCAGAGAGT	0.512000														34			13		0	0	0.038395	0	0
ZNF14	7561	broad.mit.edu	37	19	19823080	19823080	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:19823080C>A	uc002nnk.1	-	3	1164	c.1010G>T	c.(1009-1011)tGt>tTt	p.C337F		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCTTTACATTTATAAGG	0.378000														24			11		1.61879e-10	1.76899e-10	0.013537	1	0
UNC13B	10497	broad.mit.edu	37	9	35375163	35375163	+	Missense_Mutation	SNP	A	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:35375163A>G	uc003zwr.3	+	12	1625	c.1333A>G	c.(1333-1335)Atg>Gtg	p.M445V	UNC13B_uc003zwq.3_Missense_Mutation_p.M445V	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	445					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CACTTCTGCAATGGCTACACG	0.537000														113			171		0	0	0.048971	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42275086	42275086	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:42275086C>A	uc002iga.3	-	1	155	c.64G>T	c.(64-66)Gag>Tag	p.E22*	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Nonsense_Mutation_p.E22*	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	22					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGTATATCTCCTGAGCGATG	0.577000														224			53		5.82388e-19	6.71013e-19	0.048971	1	0
POU5F2	134187	broad.mit.edu	37	5	93076682	93076682	+	Silent	SNP	A	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:93076682A>T	uc003kkl.1	-	0	628	c.588T>A	c.(586-588)ctT>ctA	p.L196L	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	196						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATAAGCCCAGAAGGTTCTCTG	0.542000														110			55		0	0	0.048971	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590513	1590513	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:1590513G>A	uc003skv.4	-	2	642	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	TMEM184A_uc003skt.4_5'UTR|TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	109						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCGAGGAGGAGGAGGCTGAGC	0.632000														120			32		0	0	0.030466	0	0
PARP8	79668	broad.mit.edu	37	5	50123848	50123848	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:50123848T>A	uc003jon.4	+	20	2230	c.2048T>A	c.(2047-2049)tTt>tAt	p.F683Y	PARP8_uc011cpz.2_Missense_Mutation_p.F575Y|PARP8_uc003joo.3_Missense_Mutation_p.F683Y|PARP8_uc003jop.3_Missense_Mutation_p.F641Y	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	683	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATCCAATTTTAGAGCTGCT	0.383000														57			28		0	0	0.069456	0	0
IFT57	55081	broad.mit.edu	37	3	107937434	107937434	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:107937434G>C	uc021xcc.1	-	2	588	c.535C>G	c.(535-537)Ctt>Gtt	p.L179V	IFT57_uc003dwx.4_Missense_Mutation_p.L148V	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	148					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AAGCAATCAAGAACATAGCAT	0.343000														37			6		0	0	0.029380	0	0
FAM154B	283726	broad.mit.edu	37	15	82574679	82574679	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:82574679A>C	uc002bgv.3	+	2	542	c.473A>C	c.(472-474)cAt>cCt	p.H158P	FAM154B_uc010unr.2_Missense_Mutation_p.H143P|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	158										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATATACCTCATCAGCTTGAA	0.433000														37			9		0	0	0.047766	0	0
PCLO	27445	broad.mit.edu	37	7	82763635	82763635	+	Silent	SNP	A	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:82763635A>G	uc003uhx.2	-	2	3520	c.3231T>C	c.(3229-3231)aaT>aaC	p.N1077N	PCLO_uc003uhv.2_Silent_p.N1077N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1023					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGTGCAAGTATTGAAGTTAG	0.368000														38			12		0	0	0.010729	0	0
C12orf66	144577	broad.mit.edu	37	12	64615826	64615826	+	Silent	SNP	G	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:64615826G>C	uc001srw.4	-	0	251	c.192C>G	c.(190-192)gcC>gcG	p.A64A	BC042855_uc001srx.3_5'Flank	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	64										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGACCTTCTCGGCCGCGGCCA	0.637000														28			10		0	0	0.024245	0	0
GLI1	2735	broad.mit.edu	37	12	57861143	57861143	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:57861143C>A	uc001snx.3	+	8	1034	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	GLI1_uc021qzi.1_Missense_Mutation_p.R273S|GLI1_uc009zpq.3_Missense_Mutation_p.R186S	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	314					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R314L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTCATACTCACGCCTCGAAAA	0.542000														126			29		9.17885e-22	1.10563e-21	0.059317	1	0
PLEKHH3	79990	broad.mit.edu	37	17	40822333	40822333	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:40822333G>A	uc002iau.2	-	10	2083	c.1616C>T	c.(1615-1617)gCg>gTg	p.A539V	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A536V	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	539	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCAGCGCCGCCAGGGCGCG	0.791000														1			2		0	0	0.004672	0	0
PLCB2	5330	broad.mit.edu	37	15	40590557	40590557	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:40590557G>A	uc001zld.3	-	10	1323	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	PLCB2_uc010bbo.3_Missense_Mutation_p.S341L|PLCB2_uc010ucm.2_Missense_Mutation_p.S341L	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	341	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S341S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CATCTCAGCCGAGGAGAGGCC	0.627000														68			24		0	0	0.027356	0	0
FAU	2197	broad.mit.edu	37	11	64889269	64889269	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:64889269C>G	uc001ocx.3	-	1	136	c.17G>C	c.(16-18)cGc>cCc	p.R6P	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	6										NS(3)|kidney(1)|large_intestine(2)	6						CTCCTGGGCGCGGACAAAGAG	0.532000														95			27		0	0	0.045705	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558312	56558312	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:56558312T>G	uc001skb.3	-	26	3449	c.3343A>C	c.(3343-3345)Aac>Cac	p.N1115H	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1115	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCATGCAGGTTAGGAGGAGCG	0.592000														124			97		0	0	0.048971	0	0
PALB2	79728	broad.mit.edu	37	16	23646407	23646407	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr16:23646407A>T	uc002dlx.1	-	3	1660	c.1460T>A	c.(1459-1461)gTc>gAc	p.V487D		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	487					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.K486E(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGGAGAGCTGACTTTAGTTAA	0.458000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						70			76		0	0	0.048971	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123740	12123740	+	Silent	SNP	T	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:12123740T>C	uc003nac.3	+	3	3891	c.3712T>C	c.(3712-3714)Ttg>Ctg	p.L1238L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1238					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCAGAGATTTTGGTCACAGA	0.473000														59			3		0	0	0.009096	0	0
BRSK2	9024	broad.mit.edu	37	11	1466623	1466623	+	Silent	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:1466623C>T	uc001ltm.3	+	9	1303	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	BRSK2_uc009ycv.1_Silent_p.D304D|BRSK2_uc001lth.1_Silent_p.D304D|BRSK2_uc001lti.3_Silent_p.D304D|BRSK2_uc001ltl.3_Silent_p.D304D|BRSK2_uc001ltj.3_Silent_p.D304D|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	304					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACGTGCTGGACAGCATGCACT	0.667000														25			18		0	0	0.055883	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														37			5		0	0	0.014758	0	0
UBR4	23352	broad.mit.edu	37	1	19420561	19420561	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:19420561G>T	uc001bbi.3	-	94	13823	c.13819C>A	c.(13819-13821)Cgc>Agc	p.R4607S	UBR4_uc010ocv.2_Missense_Mutation_p.R130S|UBR4_uc009vph.3_Missense_Mutation_p.R241S|UBR4_uc010ocw.2_Missense_Mutation_p.R271S|UBR4_uc001bbg.3_Missense_Mutation_p.R318S|UBR4_uc001bbh.3_Missense_Mutation_p.R316S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4607					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R4607L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGTTGGAGCGAACAAAGGTG	0.532000														28			9		9.70103e-10	1.04929e-09	0.069234	1	0
RAPGEF6	51735	broad.mit.edu	37	5	131006178	131006178	+	Missense_Mutation	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:131006178G>A	uc003kvs.1	-	14	3228	c.3086C>T	c.(3085-3087)tCa>tTa	p.S1029L	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.S1001L	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			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)		AGATAAATCTGACATCAGACA	0.433000														15			5		0	0	0.021553	0	0
OAF	220323	broad.mit.edu	37	11	120097580	120097580	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:120097580A>C	uc001pxb.3	+	2	663	c.422A>C	c.(421-423)cAc>cCc	p.H141P		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	141										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GAGCATCTGCACATGGATGTC	0.617000														106			30		0	0	0.048971	0	0
UBOX5	22888	broad.mit.edu	37	20	3090943	3090943	+	Silent	SNP	G	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr20:3090943G>A	uc002whw.3	-	4	1605	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	LOC100134015_uc002whv.1_Non-coding_Transcript|UBOX5_uc002whx.3_Silent_p.L425L|UBOX5_uc002why.1_Missense_Mutation_p.P477L	NM_014948	NP_055763	O94941	RNF37_HUMAN	Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA.	479			L -> P (in dbSNP:rs34205880).			nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.L479L(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TCGGGGCCCAGGATGCTCCCA	0.587000														116			78		0	0	0.048971	0	0
ABL1	25	broad.mit.edu	37	9	133748371	133748371	+	Silent	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:133748371C>T	uc004bzw.3	+	5	1035	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A	ABL1_uc004bzv.3_Silent_p.A363A	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	344	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.M343T(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGTACATGGCCACTCAGATCT	0.577000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									43			72		0	0	0.048971	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131042155	131042155	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:131042155C>A	uc003kvs.1	-	8	1005	c.863G>T	c.(862-864)cGt>cTt	p.R288L	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.R260L|RAPGEF6_uc010jdm.1_Missense_Mutation_p.R243L|RAPGEF6_uc003kvu.3_Missense_Mutation_p.R288L	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			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)		GCGTCGCCAACGTCGCTGGTA	0.453000														41			9		7.03913e-09	7.46147e-09	0.013537	1	0
STXBP5L	9515	broad.mit.edu	37	3	120952528	120952528	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:120952528C>A	uc003eec.4	+	11	1317	c.1177C>A	c.(1177-1179)Caa>Aaa	p.Q393K	STXBP5L_uc011bji.2_Missense_Mutation_p.Q393K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	393					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGATCTGACACAAAGCAAGTA	0.294000														13			3		6.4e-05	6.58641e-05	0.004672	1	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														31			3		0	0	0.021553	0	0
FAT4	79633	broad.mit.edu	37	4	126371457	126371457	+	Missense_Mutation	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:126371457G>T	uc003ifj.4	+	8	9286	c.9286G>T	c.(9286-9288)Gca>Tca	p.A3096S	FAT4_uc011cgp.2_Missense_Mutation_p.A1394S|FAT4_uc003ifi.1_Missense_Mutation_p.A574S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3096	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACATGAGTGCAACCATCCC	0.448000														21			3		0.004672	0.00476185	0.004672	1	0
BCAR3	8412	broad.mit.edu	37	1	94054731	94054731	+	Silent	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:94054731C>T	uc001dpz.3	-	4	1007	c.732G>A	c.(730-732)caG>caA	p.Q244Q	BCAR3_uc001dqa.3_Silent_p.Q244Q|BCAR3_uc001dqb.3_Silent_p.Q244Q|BCAR3_uc001dpy.3_Silent_p.Q153Q|LOC100129046_uc009wdn.3_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	244	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGGCGCCACTCTGCTGGGAGA	0.667000														41			25		0	0	0.037714	0	0
TNKS	8658	broad.mit.edu	37	8	9413684	9413684	+	Missense_Mutation	SNP	C	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:9413684C>G	uc003wss.3	+	0	240	c.235C>G	c.(235-237)Cga>Gga	p.R79G	TNKS_uc011kwv.1_Missense_Mutation_p.R79G	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	79					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.R79*(3)|p.R79L(1)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGACAGGCCCCGATCCCCGGA	0.701000														45			14		0	0	0.021523	0	0
OAF	220323	broad.mit.edu	37	11	120097581	120097581	+	Missense_Mutation	SNP	C	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:120097581C>A	uc001pxb.3	+	2	664	c.423C>A	c.(421-423)caC>caA	p.H141Q		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	141										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		AGCATCTGCACATGGATGTCG	0.617000														109			28		6.18754e-15	6.90399e-15	0.048971	1	0
KCTD8	386617	broad.mit.edu	37	4	44449784	44449784	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:44449784T>G	uc003gwu.3	-	0	1041	c.757A>C	c.(757-759)Aac>Cac	p.N253H		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	253						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGGCTCTCGTTGAGCGTGTCC	0.657000										HNSCC(17;0.042)				42			21		0	0	0.033182	0	0
NODAL	4838	broad.mit.edu	37	10	72195424	72195424	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:72195424T>A	uc001jrc.2	-	1	551	c.509A>T	c.(508-510)gAg>gTg	p.E170V		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	Homo sapiens nodal homolog (mouse) (NODAL), mRNA.	170					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CATCTGCTTCTCCAGGGCCCC	0.602000														60			30		0	0	0.050027	0	0
SPATA20	64847	broad.mit.edu	37	17	48628196	48628196	+	Missense_Mutation	SNP	G	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:48628196G>C	uc002ird.3	+	10	1442	c.1301G>C	c.(1300-1302)gGt>gCt	p.G434A	SPATA20_uc002irc.3_Missense_Mutation_p.G85A|SPATA20_uc002ire.3_Missense_Mutation_p.G374A|SPATA20_uc002irf.3_Missense_Mutation_p.G418A|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	418					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTGTGTTGGGTGCCACCGAG	0.642000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		175			37		0	0	0.048971	0	0
GAK	2580	broad.mit.edu	37	4	858925	858925	+	Missense_Mutation	SNP	T	G	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:858925T>G	uc003gbm.4	-	22	3350	c.3151A>C	c.(3151-3153)Acg>Ccg	p.T1051P	GAK_uc003gbn.4_Missense_Mutation_p.T972P|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.T904P	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1051			T -> M (in dbSNP:rs35227944).		cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTGGCTGGCGTGGGGGCCACT	0.637000														9			5		0	0	0.043863	0	0
ATP1A1	476	broad.mit.edu	37	1	116931576	116931576	+	Missense_Mutation	SNP	A	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:116931576A>C	uc001ege.3	+	6	1028	c.689A>C	c.(688-690)gAt>gCt	p.D230A	ATP1A1_uc010owv.1_Missense_Mutation_p.D199A|ATP1A1_uc010oww.2_Missense_Mutation_p.D230A|ATP1A1_uc010owx.2_Missense_Mutation_p.D199A	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	230					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGGTCTCCAGATTTCACAAAT	0.453000														50			33		0	0	0.059317	0	0
FAM135B	51059	broad.mit.edu	37	8	139164004	139164004	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:139164004T>C	uc003yuy.3	-	12	2885	c.2714A>G	c.(2713-2715)aAg>aGg	p.K905R	FAM135B_uc003yux.3_Missense_Mutation_p.K806R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.K467R|FAM135B_uc003yvb.3_Missense_Mutation_p.K467R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	905										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCATGCCCTTTGGGGTTTC	0.468000										HNSCC(54;0.14)				193			79		0	0	0.048971	0	0
SP140	11262	broad.mit.edu	37	2	231177371	231177371	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:231177371C>T	uc002vql.3	+	26	2691	c.2576C>T	c.(2575-2577)gCt>gTt	p.A859V	SP140_uc010zma.1_Intron|SP140_uc002vqn.3_Missense_Mutation_p.A745V|SP140_uc002vqm.3_Missense_Mutation_p.A799V|SP140_uc010fxl.3_Missense_Mutation_p.A832V	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	859					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAGTGTTTGCTATTCAGGAA	0.393000														90			39		0	0	0.033182	0	0
TFR2	7036	broad.mit.edu	37	7	100228607	100228607	+	Missense_Mutation	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:100228607C>T	uc003uvv.1	-	8	1244	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.G221D	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	392					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGGCCCGGGGCCCAGGTGATA	0.612000														38			16		0	0	0.062417	0	0
DENND4A	10260	broad.mit.edu	37	15	65989618	65989618	+	Missense_Mutation	SNP	A	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:65989618A>T	uc002api.3	-	20	3319	c.2934T>A	c.(2932-2934)agT>agA	p.S978R	DENND4A_uc002aph.3_Missense_Mutation_p.S935R|DENND4A_uc002apj.3_Missense_Mutation_p.S935R|SnoU13_uc021spa.1_5'Flank	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AACTACAATCACTCCCTTTTT	0.303000														29			3		0	0	0.004672	0	0
RUFY4	285180	broad.mit.edu	37	2	218954705	218954705	+	Silent	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:218954705C>T	uc010fvl.2	+	12	2162	c.1644C>T	c.(1642-1644)tgC>tgT	p.C548C	RUFY4_uc002vgw.3_Silent_p.C375C	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	548							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCATGCTTGCTCCATGGATT	0.632000														4			3		0	0	0.014758	0	0
FAM135B	51059	broad.mit.edu	37	8	139164000	139164000	+	Silent	SNP	G	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:139164000G>T	uc003yuy.3	-	12	2889	c.2718C>A	c.(2716-2718)ggC>ggA	p.G906G	FAM135B_uc003yux.3_Silent_p.G807G|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.G468G|FAM135B_uc003yvb.3_Silent_p.G468G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	906								p.G906S(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTAGGCATGCCCTTTGGGG	0.458000										HNSCC(54;0.14)				194			81		8.40228e-50	1.04781e-49	0.048971	1	0
WDR20	91833	broad.mit.edu	37	14	102675938	102675938	+	Silent	SNP	T	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:102675938T>C	uc010txu.2	+	3	1596	c.1524T>C	c.(1522-1524)gaT>gaC	p.D508D	WDR20_uc001ylf.3_Silent_p.D489D|WDR20_uc001ykz.3_Silent_p.D477D|WDR20_uc001yky.2_Silent_p.D220D|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Silent_p.D416D|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Silent_p.D416D|WDR20_uc001yld.3_Silent_p.D477D|WDR20_uc021sdy.1_5'Flank	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	477										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ACGAGAAAGATCACAAGCGAA	0.473000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		136			62		0	0	0.048971	0	0
KIAA1967	57805	broad.mit.edu	37	8	22464154	22464154	+	Missense_Mutation	SNP	T	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:22464154T>A	uc003xch.3	+	3	434	c.185T>A	c.(184-186)gTt>gAt	p.V62D	KIAA1967_uc003xci.3_Missense_Mutation_p.V62D|KIAA1967_uc003xcj.1_5'UTR	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	62					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACTGGTATTGTTACCAGCTTG	0.463000														81			39		0	0	0.042209	0	0
AGPAT9	84803	broad.mit.edu	37	4	84457815	84457815	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:84457815T>C	uc003how.3	+	1	258	c.40T>C	c.(40-42)Tgg>Cgg	p.W14R	AGPAT9_uc003hox.3_Missense_Mutation_p.W14R|AGPAT9_uc003hoy.3_Missense_Mutation_p.W14R	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	14					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTTTCCACCTGGCTGACGCT	0.582000														119			31		0	0	0.027894	0	0
RAI14	26064	broad.mit.edu	37	5	34757668	34757668	+	Silent	SNP	C	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:34757668C>T	uc003jis.3	+	4	680	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RAI14_uc003jir.3_Silent_p.A44A|RAI14_uc010iur.3_Silent_p.A44A|RAI14_uc011coj.2_Silent_p.A44A|RAI14_uc010ius.1_5'UTR|RAI14_uc003jit.3_Silent_p.A44A|RAI14_uc011cok.2_Silent_p.A36A	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	44						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGAAGGGGGCCAGTGCCACCA	0.542000														114			26		0	0	0.021523	0	0
DNAH17	8632	broad.mit.edu	37	17	76445563	76445563	+	Missense_Mutation	SNP	T	C	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:76445563T>C	uc010dhp.2	-	68	11269	c.11144A>G	c.(11143-11145)tAc>tGc	p.Y3715C	DNAH17_uc002jvq.3_5'UTR|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTGTACATGTAGACGGAGTA	0.532000														22			4		0	0	0.009096	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234743056	234743058	+	In_Frame_Del	DEL	AGC	-	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:234743056_234743058delAGC	uc001hwg.3	-	1	1620_1622	c.1589_1591delGCT	c.(1588-1593)tgcttc>ttc	p.C530del	IRF2BP2_uc009xfw.3_In_Frame_Del_p.C140del|IRF2BP2_uc001hwf.3_In_Frame_Del_p.C514del	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.	530	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.F529C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GAGCAAGGGAAGCAGAACTTGTG	0.586													---	243	---	---	74	---					
PCDHGC5	56097	broad.mit.edu	37	5	140811171	140811177	+	Frame_Shift_Del	DEL	GGTATGT	-	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:140811171_140811177delGGTATGT	uc003lkt.2	+	0	1014_1020	c.845_851delGGTATGT	c.(844-852)cggtatgtgfs	p.R282fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Frame_Shift_Del_p.R282fs	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	282	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCCTTCCGGTATGTGGACGACAAG	0.522													---	196	---	---	63	---					
PCDHGC5	56097	broad.mit.edu	37	5	140812775	140812776	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:140812775_140812776insT	uc011dba.2	+	0	2618_2619	c.2449_2450insT	c.(2449-2451)cttfs	p.L817fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron	NM_032094	NP_115265	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 2, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCttctttcttttttttttt	0.416													---	133	---	---	7	---					
TNC	3371	broad.mit.edu	37	9	117792668	117792668	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:117792668delG	uc004bjj.4	-	23	6349	c.5937delC	c.(5935-5937)cccfs	p.P1979fs	TNC_uc010mvf.3_Frame_Shift_Del_p.P1706fs|TNC_uc022bmj.1_Frame_Shift_Del_p.P1616fs	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1979	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTTGGGGAAGGGGTACAGGA	0.498													---	14	---	---	14	---					
GPR123	84435	broad.mit.edu	37	10	134902448	134902449	+	Frame_Shift_Ins	INS	-	G	G	rs145811832	by1000genomes	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:134902448_134902449insG	uc001llw.3	+	8	1667_1668	c.1667_1668insG	c.(1666-1668)ctgfs	p.L556fs	GPR123_uc001llx.4_Intron			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTCCTGCAGCTGGGGGCTAGGC	0.693													---	3	---	---	4	---					
MYO1H	283446	broad.mit.edu	37	12	109834319	109834319	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:109834319delA	uc010sxn.1	+	2	373	c.373delA	c.(373-375)accfs	p.T125fs		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTTGCAGTGACCTGCCCAAT	0.498													---	116	---	---	21	---					
ZCCHC8	55596	broad.mit.edu	37	12	122964832	122964833	+	Frame_Shift_Ins	INS	-	A	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:122964832_122964833insA	uc001ucn.3	-	10	1200_1201	c.1044_1045insT	c.(1042-1047)gttggafs	p.V348fs	ZCCHC8_uc001ucl.3_5'Flank|ZCCHC8_uc001ucm.3_Frame_Shift_Ins_p.V110fs|ZCCHC8_uc009zxp.3_Frame_Shift_Ins_p.V110fs|ZCCHC8_uc009zxq.3_Frame_Shift_Ins_p.V110fs	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	348						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TGTATTTCTCCAACTTCTGTTT	0.371													---	34	---	---	26	---					
ITM2B	9445	broad.mit.edu	37	13	48830432	48830433	+	In_Frame_Ins	INS	-	CAA	CAA			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr13:48830432_48830433insCAA	uc001vbz.3	+	2	589_590	c.366_367insCAA	c.(364-369)insCAA	p.122_123insQ		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	122					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.I121I(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TTAAAATCTTTGAAGAAGAAGA	0.401													---	58	---	---	26	---					
FAM179B	23116	broad.mit.edu	37	14	45433529	45433529	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:45433529delC	uc001wvw.3	+	0	2114	c.1905delC	c.(1903-1905)cacfs	p.H635fs	FAM179B_uc001wvv.3_Frame_Shift_Del_p.H635fs|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Frame_Shift_Del_p.H635fs|FAM179B_uc001wvu.3_Frame_Shift_Del_p.H635fs	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	635							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATAGCATGCACATTTATGGAT	0.453													---	40	---	---	19	---					
ISLR2	57611	broad.mit.edu	37	15	74425252	74425252	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:74425252delG	uc002axd.3	+	3	926	c.157delG	c.(157-159)gtgfs	p.V53fs	ISLR2_uc002axe.3_Frame_Shift_Del_p.V53fs|ISLR2_uc010bjg.3_Frame_Shift_Del_p.V53fs|ISLR2_uc010bjf.3_Frame_Shift_Del_p.V53fs|ISLR2_uc021sqe.1_Frame_Shift_Del_p.V53fs	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	53					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.N52N(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCTGCCAACGTGACGACGCT	0.632													---	160	---	---	76	---					
LINS	55180	broad.mit.edu	37	15	101114034	101114034	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:101114034delC	uc002bwg.3	-	4	1267	c.1044delG	c.(1042-1044)gggfs	p.G348fs	LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_Frame_Shift_Del_p.G229fs|LINS_uc002bwi.3_Frame_Shift_Del_p.G348fs	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	348										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTTCAACAACCCCGAATTCA	0.448													---	156	---	---	57	---					
