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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
CALML5	51806	broad.mit.edu	36	10	5531187	5531187	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:5531187G>A	uc001iic.1	-	c.215C>T	c.(214-216)GCG>GTG	p.A72V		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	72	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding				0						GBM(149;1055 3356 43077)								0.670807	361.956195	366.141373	108	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5531187	5531187	2706	10	G	A	A	38	38	CALML5	A	1	1
PTEN	5728	broad.mit.edu	36	10	89701880	89701880	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89701880G>A	uc001kfb.1	+	c.518G>A	c.(517-519)CGC>CAC	p.R173H		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).		apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173H(22)|p.R173C(5)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R172fs*5(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			R173H(RL952_ENDOMETRIUM)	31	p.R173H(RL952-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.345455	175.934948	179.410235	57	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	89701880	89701880	13192	10	G	A	A	38	38	PTEN	A	1	1
ACTA2	59	broad.mit.edu	36	10	90693550	90693550	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:90693550C>T	uc001kfp.1	-	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	ACTA2_uc001kfq.1_Missense_Mutation_p.R118Q	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	118			R -> Q (in AAT6).		response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)						5				0.192053	69.801734	83.166365	29	122	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90693550	90693550	193	10	C	T	T	23	23	ACTA2	T	1	1
MADD	8567	broad.mit.edu	36	11	47262678	47262679	+	Missense_Mutation	DNP	CA	TC	TC			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47262678_47262679CA>TC	uc001ner.1	+	c.2143_2144CA>TC	c.(2143-2145)CAC>TCC	p.H715S	MADD_uc001neq.1_Missense_Mutation_p.H715S|MADD_uc001nes.1_Missense_Mutation_p.H715S|MADD_uc001net.1_Missense_Mutation_p.H715S|MADD_uc001neu.1_Missense_Mutation_p.H715S|MADD_uc001nev.1_Missense_Mutation_p.H715S|MADD_uc009yln.1_Missense_Mutation_p.H715S|MADD_uc001ney.1_Missense_Mutation_p.H715S|MADD_uc001nez.1_Missense_Mutation_p.H715S|MADD_uc001new.1_Missense_Mutation_p.H715S|MADD_uc001nex.1_Missense_Mutation_p.H715S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	715					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10				Lung(87;0.182)						5				0.384615	11.969437	12.121953	5	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	47262678	47262679	9529	11	CA	TC	TC	21	21	MADD	TC	2	2
SLC15A3	51296	broad.mit.edu	36	11	60463669	60463669	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60463669G>A	uc001nqn.1	-	c.1294C>T	c.(1294-1296)CGC>TGC	p.R432C	SLC15A3_uc001nqo.1_Silent_p.S375S	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	432					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0														0.333333	58.250759	59.80222	21	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60463669	60463669	14895	11	G	A	A	38	38	SLC15A3	A	1	1
WSCD2	9671	broad.mit.edu	36	12	107128162	107128162	+	Missense_Mutation	SNP	A	C	C			TCGA-32-1976-01	TCGA-32-1976-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107128162A>C	uc001tms.1	+	c.632A>C	c.(631-633)AAC>ACC	p.N211T	WSCD2_uc001tmt.1_Missense_Mutation_p.N211T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	211	WSC 1.					integral to membrane		p.N211T(1)		ovary(1)|large_intestine(1)|breast(1)	3														0.173913	7.089498	9.397228	4	19	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107128162	107128162	17981	12	A	C	C	2	2	WSCD2	C	4	4
ALDH2	217	broad.mit.edu	36	12	110722178	110722178	+	Missense_Mutation	SNP	C	G	G			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110722178C>G	uc001tst.1	+	c.1334C>G	c.(1333-1335)GCC>GGC	p.A445G	ALDH2_uc009zvy.1_Missense_Mutation_p.A369G	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	445					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|electron carrier activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)									0.162162	7.722045	11.74717	6	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110722178	110722178	499	12	C	G	G	26	26	ALDH2	G	3	3
CABP1	9478	broad.mit.edu	36	12	119582482	119582482	+	Silent	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119582482C>T	uc001tyu.1	+	c.786C>T	c.(784-786)ACC>ACT	p.T262T	CABP1_uc001tyv.1_Silent_p.T119T|CABP1_uc001tyw.1_Silent_p.T59T|CABP1_uc001tyx.1_Silent_p.T104T	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	262	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.376238	118.264473	119.607118	38	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	119582482	119582482	2647	12	C	T	T	23	23	CABP1	T	1	1
OR8S1	341568	broad.mit.edu	36	12	47205753	47205753	+	Silent	SNP	G	T	T			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47205753G>T	uc001rrs.1	+	c.72G>T	c.(70-72)CGG>CGT	p.R24R		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.5	555.276186	555.276186	173	173	GG		KEEP	---	---	---	---	capture			Silent	SNP	47205753	47205753	11657	12	G	T	T	43	43	OR8S1	T	3	3
ANKRD33	341405	broad.mit.edu	36	12	50569465	50569465	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50569465G>A	uc001rzd.1	+	c.569G>A	c.(568-570)GGC>GAC	p.G190D	ANKRD33_uc001rze.1_Missense_Mutation_p.G55D|ANKRD33_uc001rzf.2_Missense_Mutation_p.G55D|ANKRD33_uc001rzg.2_5'UTR|ANKRD33_uc001rzh.2_3'UTR|ANKRD33_uc001rzi.2_Missense_Mutation_p.G55D	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 2	55	ANK 1.										0				BRCA - Breast invasive adenocarcinoma(357;0.0969)										0.441624	273.311672	273.891007	87	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50569465	50569465	667	12	G	A	A	42	42	ANKRD33	A	2	2
MBD6	114785	broad.mit.edu	36	12	56209284	56209284	+	Nonstop_Mutation	SNP	G	C	C			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56209284G>C	uc001soj.1	+	c.3012G>C	c.(3010-3012)TAG>TAC	p.*1004Y	MBD6_uc001sok.1_Nonstop_Mutation_p.*872Y|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	1004						chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4														0.176471	6.419192	8.092442	3	14	GG		KEEP	---	---	---	---	capture			Nonstop_Mutation	SNP	56209284	56209284	9736	12	G	C	C	34	34	MBD6	C	5	3
ATP8A2	51761	broad.mit.edu	36	13	25247072	25247072	+	Missense_Mutation	SNP	A	G	G			TCGA-32-1976-01	TCGA-32-1976-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:25247072A>G	uc001uqk.1	+	c.2654A>G	c.(2653-2655)AAG>AGG	p.K885R	ATP8A2_uc010aaj.1_Missense_Mutation_p.K435R	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	845	Helical; (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.324561	239.16971	245.398276	74	154	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25247072	25247072	1212	13	A	G	G	3	3	ATP8A2	G	4	4
RABGGTA	5875	broad.mit.edu	36	14	23808717	23808717	+	Missense_Mutation	SNP	A	C	C			TCGA-32-1976-01	TCGA-32-1976-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23808717A>C	uc001wof.1	-	c.451T>G	c.(451-453)TTT>GTT	p.F151V	RABGGTA_uc001woe.1_Non-coding_Transcript|RABGGTA_uc001wog.1_Missense_Mutation_p.F151V|RABGGTA_uc001woh.1_Non-coding_Transcript|RABGGTA_uc001woi.1_Non-coding_Transcript	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	151	PFTA 3.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)										0.233333	9.348244	11.373041	7	23	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23808717	23808717	13426	14	A	C	C	2	2	RABGGTA	C	4	4
FSCB	84075	broad.mit.edu	36	14	44043479	44043479	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44043479C>T	uc001wvn.1	-	c.2462G>A	c.(2461-2463)CGT>CAT	p.R821H		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	821						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.315068	70.134524	72.336457	23	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44043479	44043479	6316	14	C	T	T	19	19	FSCB	T	1	1
CDKN3	1033	broad.mit.edu	36	14	53947987	53947987	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:53947987G>A	uc001xap.1	+	c.229G>A	c.(229-231)GTT>ATT	p.V77I	CDKN3_uc001xaq.1_Missense_Mutation_p.V77I|CDKN3_uc001xar.1_Missense_Mutation_p.V37I|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_Intron	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3 isoform 1	77					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0						Pancreas(40;634 1012 9382 49950 52462)								0.234568	49.681942	54.903922	19	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53947987	53947987	3296	14	G	A	A	48	48	CDKN3	A	2	2
MAP3K9	4293	broad.mit.edu	36	14	70270932	70270932	+	Silent	SNP	C	T	T	rs45600331	by-1000genomes	TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:70270932C>T	uc001xml.1	-	c.1950G>A	c.(1948-1950)TCG>TCA	p.S650S	MAP3K9_uc001xmk.1_Silent_p.S369S|MAP3K9_uc001xmm.1_Silent_p.S650S	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	650					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GBM(114;411 1587 13539 28235 50070)				190				0.339623	394.340677	402.774479	126	245	CC		KEEP	---	---	---	---	capture			Silent	SNP	70270932	70270932	9640	14	C	T	T	19	19	MAP3K9	T	1	1
HBQ1	3049	broad.mit.edu	36	16	171052	171052	+	Missense_Mutation	SNP	C	G	G			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:171052C>G	uc002cfz.1	+	c.374C>G	c.(373-375)TCG>TGG	p.S125W		NM_005331	NP_005322	P09105	HBAT_HUMAN	theta 1 globin	125						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)												0.148936	8.99455	14.555371	7	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	171052	171052	7268	16	C	G	G	31	31	HBQ1	G	3	3
TMC5	79838	broad.mit.edu	36	16	19362961	19362961	+	Silent	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19362961C>T	uc002dgc.2	+	c.846C>T	c.(844-846)CCC>CCT	p.P282P	TMC5_uc002dgb.2_Silent_p.P282P	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	282	Extracellular (Potential).					integral to membrane					0														0.467337	317.967901	318.151788	93	106	CC		KEEP	---	---	---	---	capture			Silent	SNP	19362961	19362961	16518	16	C	T	T	23	23	TMC5	T	1	1
CD19	930	broad.mit.edu	36	16	28857551	28857551	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28857551C>T	uc010byo.1	+	c.1543C>T	c.(1543-1545)CGC>TGC	p.R515C	CD19_uc002drs.1_Missense_Mutation_p.R514C	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen	514	Cytoplasmic (Potential).				cellular defense response	integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3														0.452632	134.212011	134.396799	43	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28857551	28857551	3100	16	C	T	T	23	23	CD19	T	1	1
CREBBP	1387	broad.mit.edu	36	16	3721904	3721904	+	Missense_Mutation	SNP	C	G	G			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3721904C>G	uc002cvv.1	-	c.4764G>C	c.(4762-4764)AAG>AAC	p.K1588N	CREBBP_uc002cvw.1_Missense_Mutation_p.K1550N	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1588	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			ovary(6)|skin(2)|pancreas(1)|lung(1)	10		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)						748				0.463415	244.290875	244.481024	76	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3721904	3721904	4000	16	C	G	G	32	32	CREBBP	G	3	3
JPH3	57338	broad.mit.edu	36	16	86235899	86235899	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86235899C>T	uc002fkd.1	+	c.917C>T	c.(916-918)TCG>TTG	p.S306L		NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	306	Cytoplasmic (Potential).|MORN 7.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)										0.487179	117.544272	117.555442	38	40	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86235899	86235899	8266	16	C	T	T	31	31	JPH3	T	1	1
MYH4	4622	broad.mit.edu	36	17	10308525	10308525	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10308525C>T	uc002gmn.1	-	c.637G>A	c.(637-639)GGC>AGC	p.G213S		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	213	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.102041	9.580449	25.052753	10	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10308525	10308525	10432	17	C	T	T	21	21	MYH4	T	2	2
CCR10	2826	broad.mit.edu	36	17	38086059	38086059	+	Missense_Mutation	SNP	A	C	C			TCGA-32-1976-01	TCGA-32-1976-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38086059A>C	uc002iax.2	-	c.127T>G	c.(127-129)TTC>GTC	p.F43V	CNTNAP1_uc002iay.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	43	Extracellular (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)										0.363636	8.194095	8.375089	4	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38086059	38086059	3067	17	A	C	C	3	3	CCR10	C	4	4
TMC6	11322	broad.mit.edu	36	17	73631853	73631853	+	Silent	SNP	A	C	C			TCGA-32-1976-01	TCGA-32-1976-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73631853A>C	uc002juj.1	-	c.894T>G	c.(892-894)GGT>GGG	p.G298G	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Silent_p.G131G|TMC6_uc002juk.2_Silent_p.G298G|TMC6_uc010dhg.1_Silent_p.G298G|TMC6_uc002jul.1_Silent_p.G298G|TMC6_uc002jum.2_Silent_p.G89G|TMC6_uc002jun.2_Silent_p.G298G|TMC6_uc002juo.2_Silent_p.G71G	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	298	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)											0.384615	8.238756	8.433222	5	8	AA		KEEP	---	---	---	---	capture			Silent	SNP	73631853	73631853	16519	17	A	C	C	2	2	TMC6	C	4	4
EMILIN2	84034	broad.mit.edu	36	18	2881556	2881556	+	Silent	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:2881556C>T	uc002kln.1	+	c.1431C>T	c.(1429-1431)GGC>GGT	p.G477G		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	477					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.1)										0.235632	101.381755	112.508076	41	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	2881556	2881556	5286	18	C	T	T	27	27	EMILIN2	T	1	1
LILRA4	23547	broad.mit.edu	36	19	59540010	59540010	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59540010G>A	uc002qfj.1	-	c.1169C>T	c.(1168-1170)GCG>GTG	p.A390V	LILRA4_uc002qfi.1_Missense_Mutation_p.A324V	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	390	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)										0.623377	475.513153	478.594668	144	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59540010	59540010	9113	19	G	A	A	38	38	LILRA4	A	1	1
NLRP4	147945	broad.mit.edu	36	19	61061423	61061423	+	Silent	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61061423G>A	uc002qmd.2	+	c.852G>A	c.(850-852)CCG>CCA	p.P284P	NLRP4_uc002qme.1_Silent_p.P284P|NLRP4_uc002qmf.1_Silent_p.P209P|NLRP4_uc010etf.1_Silent_p.P115P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	284	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.583333	226.056124	226.782502	70	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	61061423	61061423	10882	19	G	A	A	37	37	NLRP4	A	1	1
HRNR	388697	broad.mit.edu	36	1	150458042	150458042	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150458042C>T	uc001ezt.1	-	c.2687G>A	c.(2686-2688)CGT>CAT	p.R896H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	896	10.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.48	71.898365	71.915518	24	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150458042	150458042	7653	1	C	T	T	19	19	HRNR	T	1	1
FLG	2312	broad.mit.edu	36	1	150542500	150542500	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150542500C>T	uc001ezu.1	-	c.11486G>A	c.(11485-11487)CGT>CAT	p.R3829H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3829	Filaggrin 23.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.450777	1065.001222	1066.625692	348	424	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150542500	150542500	6160	1	C	T	T	19	19	FLG	T	1	1
CYP4A22	284541	broad.mit.edu	36	1	47383118	47383118	+	Missense_Mutation	SNP	T	G	G			TCGA-32-1976-01	TCGA-32-1976-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47383118T>G	uc001cqv.1	+	c.1111T>G	c.(1111-1113)TAC>GAC	p.Y371D	CYP4A22_uc009vyo.1_Missense_Mutation_p.Y371D|CYP4A22_uc009vyp.1_Missense_Mutation_p.Y273D	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	371					oxidation-reduction process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			ovary(1)|breast(1)	2						Pancreas(88;1240 1470 2099 14214 37557)								0.382979	50.937935	51.502417	18	29	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47383118	47383118	4349	1	T	G	G	53	53	CYP4A22	G	4	4
LRRC7	57554	broad.mit.edu	36	1	70250074	70250074	+	Silent	SNP	T	A	A			TCGA-32-1976-01	TCGA-32-1976-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:70250074T>A	uc001dep.1	+	c.897T>A	c.(895-897)TCT>TCA	p.S299S	LRRC7_uc009wbg.1_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	299						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.545455	61.752956	61.812277	18	15	TT		KEEP	---	---	---	---	capture			Silent	SNP	70250074	70250074	9396	1	T	A	A	56	56	LRRC7	A	4	4
NFAM1	150372	broad.mit.edu	36	22	41135496	41135496	+	Silent	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:41135496G>A	uc003bcn.2	-	c.453C>T	c.(451-453)GAC>GAT	p.D151D		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	151	Extracellular (Potential).				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.333333	87.053511	89.190011	29	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	41135496	41135496	10758	22	G	A	A	40	40	NFAM1	A	1	1
TANC1	85461	broad.mit.edu	36	2	159728208	159728208	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:159728208C>T	uc002uag.1	+	c.851C>T	c.(850-852)ACG>ATG	p.T284M	TANC1_uc010fol.1_Missense_Mutation_p.T178M|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	284						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3														0.455882	199.403335	199.623253	62	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	159728208	159728208	16065	2	C	T	T	19	19	TANC1	T	1	1
GEN1	348654	broad.mit.edu	36	2	17825731	17825731	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:17825731G>A	uc002rct.1	+	c.1771G>A	c.(1771-1773)GAA>AAA	p.E591K	SMC6_uc010exo.1_Intron|GEN1_uc002rcu.1_Missense_Mutation_p.E591K	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	591					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.273504	88.848186	94.257136	32	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17825731	17825731	6603	2	G	A	A	41	41	GEN1	A	2	2
CNTN4	152330	broad.mit.edu	36	3	3053955	3053955	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:3053955G>A	uc003bpc.1	+	c.2035G>A	c.(2035-2037)GTG>ATG	p.V679M	CNTN4_uc003bpb.1_Missense_Mutation_p.V350M|CNTN4_uc003bpd.1_Missense_Mutation_p.V679M|CNTN4_uc003bpe.1_Missense_Mutation_p.V351M|CNTN4_uc003bpf.1_Missense_Mutation_p.V350M|CNTN4_uc003bpg.1_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	679	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.37551	853.42418	863.420272	276	459	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3053955	3053955	3781	3	G	A	A	40	40	CNTN4	A	1	1
C1QTNF7	114905	broad.mit.edu	36	4	15046666	15046666	+	Silent	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15046666C>T	uc003gno.1	+	c.201C>T	c.(199-201)GAC>GAT	p.D67D	C1QTNF7_uc003gnp.1_Silent_p.D67D	NM_031911	NP_114117	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	67	Collagen-like.					collagen					0														0.104762	10.851606	27.159944	11	94	CC		KEEP	---	---	---	---	capture			Silent	SNP	15046666	15046666	2035	4	C	T	T	19	19	C1QTNF7	T	1	1
ODZ3	55714	broad.mit.edu	36	4	183957989	183957989	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183957989G>A	uc003ivd.1	+	c.7591G>A	c.(7591-7593)GCC>ACC	p.A2531T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2531	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.510204	80.272085	80.276462	25	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	183957989	183957989	11241	4	G	A	A	38	38	ODZ3	A	1	1
CCKAR	886	broad.mit.edu	36	4	26092490	26092490	+	Silent	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:26092490G>A	uc003gse.1	-	c.1155C>T	c.(1153-1155)TTC>TTT	p.F385F		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	385	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			pancreas(1)	1		Breast(46;0.0503)			Ceruletide(DB00403)									0.464684	378.815527	379.109403	125	144	GG		KEEP	---	---	---	---	capture			Silent	SNP	26092490	26092490	3005	4	G	A	A	41	41	CCKAR	A	2	2
MFSD10	10227	broad.mit.edu	36	4	2903089	2903089	+	Silent	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2903089G>A	uc003gfw.1	-	c.1014C>T	c.(1012-1014)GCC>GCT	p.A338A	MFSD10_uc003gfv.1_Silent_p.A28A|MFSD10_uc003gfx.1_Silent_p.A162A|MFSD10_uc003gfy.1_Non-coding_Transcript|MFSD10_uc003gfz.1_Silent_p.A338A|MFSD10_uc003gga.1_Intron|MFSD10_uc003ggb.1_Silent_p.A338A|MFSD10_uc003ggc.1_Silent_p.A338A	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	338	Helical; (Potential).				apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)										0.1875	7.41545	8.878448	3	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	2903089	2903089	9918	4	G	A	A	39	39	MFSD10	A	1	1
SULT1E1	6783	broad.mit.edu	36	4	70754600	70754600	+	Missense_Mutation	SNP	A	T	T			TCGA-32-1976-01	TCGA-32-1976-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70754600A>T	uc003heo.1	-	c.293T>A	c.(292-294)ATG>AAG	p.M98K	SULT1E1_uc010ihv.1_Missense_Mutation_p.M98K	NM_005420	NP_005411	P49888	ST1E1_HUMAN	sulfotransferase, estrogen-preferring	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			ovary(1)	1														0.362745	116.648662	118.338902	37	65	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70754600	70754600	15900	4	A	T	T	8	8	SULT1E1	T	4	4
PSD2	84249	broad.mit.edu	36	5	139173206	139173206	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139173206C>T	uc003leu.1	+	c.500C>T	c.(499-501)ACG>ATG	p.T167M		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	167					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.255245	192.244472	207.785449	73	213	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139173206	139173206	13100	5	C	T	T	19	19	PSD2	T	1	1
FGFR4	2264	broad.mit.edu	36	5	176452933	176452933	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176452933C>T	uc003mfl.1	+	c.1246C>T	c.(1246-1248)CGA>TGA	p.R416*	FGFR4_uc003mfm.1_Nonsense_Mutation_p.R416*|FGFR4_uc003mfo.1_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	416	Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(10)|breast(1)|central_nervous_system(1)|skin(1)	13	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)					219	TSP Lung(9;0.080)			0.335217	545.118717	557.86091	178	353	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	176452933	176452933	6105	5	C	T	T	23	23	FGFR4	T	5	1
GPR98	84059	broad.mit.edu	36	5	90185020	90185020	+	Missense_Mutation	SNP	A	G	G			TCGA-32-1976-01	TCGA-32-1976-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:90185020A>G	uc003kju.1	+	c.17368A>G	c.(17368-17370)AGT>GGT	p.S5790G	GPR98_uc003kjt.1_Missense_Mutation_p.S3496G|GPR98_uc003kjw.1_Missense_Mutation_p.S1451G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5790	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.5	77.86179	77.86179	25	25	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90185020	90185020	6997	5	A	G	G	3	3	GPR98	G	4	4
ELOVL2	54898	broad.mit.edu	36	6	11103331	11103331	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:11103331C>T	uc003mzp.2	-	c.400G>A	c.(400-402)GTT>ATT	p.V134I		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	134					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)											0.155642	78.436744	107.541531	40	217	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11103331	11103331	5266	6	C	T	T	19	19	ELOVL2	T	1	1
IGF2R	3482	broad.mit.edu	36	6	160443620	160443620	+	Missense_Mutation	SNP	G	A	A	rs73598446	by-1000genomes	TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160443620G>A	uc003qta.1	+	c.6922G>A	c.(6922-6924)GCG>ACG	p.A2308T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2308	Helical; (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.64	152.625906	153.929418	48	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	160443620	160443620	7877	6	G	A	A	38	38	IGF2R	A	1	1
STK19	8859	broad.mit.edu	36	6	32047851	32047851	+	Silent	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32047851G>A	uc003nyv.1	+	c.99G>A	c.(97-99)GAG>GAA	p.E33E	DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.1_5'UTR|DOM3Z_uc003nyu.1_Non-coding_Transcript|STK19_uc010jtm.1_5'UTR|STK19_uc003nyw.1_Silent_p.E33E|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	serine/threonine kinase 19 isoform 2	33					protein phosphorylation	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(4)	4										192				0.456522	138.840363	138.991717	42	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	32047851	32047851	15812	6	G	A	A	35	35	STK19	A	2	2
GRM4	2914	broad.mit.edu	36	6	34209183	34209183	+	Silent	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34209183G>A	uc003oir.2	-	c.69C>T	c.(67-69)TAC>TAT	p.Y23Y	GRM4_uc010jvh.1_Silent_p.Y23Y|GRM4_uc010jvi.1_De_novo_Start_OutOfFrame|GRM4_uc010jvj.1_Intron|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	23					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.40625	42.272166	42.516958	13	19	GG		KEEP	---	---	---	---	capture			Silent	SNP	34209183	34209183	7078	6	G	A	A	40	40	GRM4	A	1	1
OPN5	221391	broad.mit.edu	36	6	47884039	47884039	+	Missense_Mutation	SNP	G	T	T			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:47884039G>T	uc003ozc.1	+	c.947G>T	c.(946-948)TGC>TTC	p.C316F	OPN5_uc003ozd.1_Missense_Mutation_p.C151F	NM_181744	NP_001025222	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	316	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						Melanoma(28;740 973 10870 42660 45347)								0.09375	7.299152	28.538507	12	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47884039	47884039	11289	6	G	T	T	46	46	OPN5	T	3	3
ING3	54556	broad.mit.edu	36	7	120378487	120378488	+	Missense_Mutation	DNP	GC	TA	TA			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120378487_120378488GC>TA	uc003vjn.1	+	c.62_63GC>TA	c.(61-63)CGC>CTA	p.R21L	ING3_uc003vjl.2_Missense_Mutation_p.R21L|ING3_uc003vjm.1_Missense_Mutation_p.R21L|ING3_uc003vjo.1_5'UTR|ING3_uc003vjp.1_Missense_Mutation_p.R21L	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	21					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)													0.211656	171.830164	196.866574	69	257	GG		KEEP	---	---	---	---	capture			Missense_Mutation	DNP	120378487	120378488	8038	7	GC	TA	TA	38	38	ING3	TA	3	3
NPC1L1	29881	broad.mit.edu	36	7	44545477	44545477	+	Silent	SNP	C	A	A			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44545477C>A	uc003tlb.1	-	c.1044G>T	c.(1042-1044)GTG>GTT	p.V348V	NPC1L1_uc003tlc.1_Silent_p.V348V|NPC1L1_uc003tld.2_Silent_p.V348V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	348	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)	4					Ezetimibe(DB00973)									0.3125	127.71799	132.227429	45	99	CC		KEEP	---	---	---	---	capture			Silent	SNP	44545477	44545477	10975	7	C	A	A	21	21	NPC1L1	A	3	3
SLC30A8	169026	broad.mit.edu	36	8	118239252	118239252	+	Missense_Mutation	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:118239252C>T	uc003yoh.1	+	c.560C>T	c.(559-561)GCG>GTG	p.A187V	SLC30A8_uc010mcz.1_Missense_Mutation_p.A138V|SLC30A8_uc003yog.1_Missense_Mutation_p.A138V|SLC30A8_uc003yoi.1_Missense_Mutation_p.A138V	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	187	Helical; (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion binding|zinc ion transmembrane transporter activity	p.A187V(1)		ovary(2)|skin(1)	3	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			Ovarian(162;1202 1922 6011 16223 52092)								0.440273	413.645696	414.554115	129	164	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118239252	118239252	15058	8	C	T	T	27	27	SLC30A8	T	1	1
WISP1	8840	broad.mit.edu	36	8	134302160	134302160	+	Silent	SNP	C	T	T			TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134302160C>T	uc003yub.1	+	c.504C>T	c.(502-504)CCC>CCT	p.P168P	WISP1_uc003yuc.1_Intron|WISP1_uc010meb.1_Intron|WISP1_uc010mec.1_Intron|WISP1_uc010med.1_Intron|WISP1_uc003yud.1_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	168	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)											0.568182	163.659811	164.017622	50	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	134302160	134302160	17946	8	C	T	T	22	22	WISP1	T	2	2
COL22A1	169044	broad.mit.edu	36	8	139728095	139728095	+	Missense_Mutation	SNP	G	C	C			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139728095G>C	uc003yvd.1	-	c.3460C>G	c.(3460-3462)CCT>GCT	p.P1154A	COL22A1_uc003yvc.1_Missense_Mutation_p.P272A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1154	Pro-rich.|Gly-rich.|Collagen-like 10.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1154S(1)		ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.272727	6.527599	7.039039	3	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139728095	139728095	3819	8	G	C	C	42	42	COL22A1	C	3	3
ADAMDEC1	27299	broad.mit.edu	36	8	24305750	24305750	+	Missense_Mutation	SNP	C	T	T	rs61731546	unknown	TCGA-32-1976-01	TCGA-32-1976-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24305750C>T	uc003xdz.1	+	c.119C>T	c.(118-120)ACG>ATG	p.T40M	ADAMDEC1_uc010lub.1_De_novo_Start_InFrame	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	40					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding				0		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		Ovarian(147;687 1849 3699 25981 31337)								0.253521	100.639088	108.46597	36	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24305750	24305750	255	8	C	T	T	19	19	ADAMDEC1	T	1	1
KIF12	113220	broad.mit.edu	36	9	115893994	115893994	+	Missense_Mutation	SNP	G	A	A			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115893994G>A	uc004bif.1	-	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	KIF12_uc004big.1_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	637					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.285714	114.35232	120.115093	40	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115893994	115893994	8584	9	G	A	A	40	40	KIF12	A	1	1
WNK3	65267	broad.mit.edu	36	X	54291929	54291929	+	Missense_Mutation	SNP	G	C	C			TCGA-32-1976-01	TCGA-32-1976-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:54291929G>C	uc004dtc.1	-	c.3577C>G	c.(3577-3579)CAG>GAG	p.Q1193E	WNK3_uc004dtd.1_Missense_Mutation_p.Q1193E	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 1	1193					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11										290				0.76	207.010296	211.638361	57	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54291929	54291929	17953	23	G	C	C	45	45	WNK3	C	3	3
PCDH11Y	83259	broad.mit.edu	36	Y	5665974	5665974	+	Missense_Mutation	SNP	T	A	A			TCGA-32-1976-01	TCGA-32-1976-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrY:5665974T>A	uc004fqo.1	+	c.4014T>A	c.(4012-4014)CAT>CAA	p.H1338Q		NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	1338	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.884058	408.329977	428.363734	122	16	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5665974	5665974	11929	24	T	A	A	50	50	PCDH11Y	A	4	4
MUC2	4583	broad.mit.edu	36	11	1091052	1091053	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1091052_1091053delGC	uc001lsx.1	+	c.14537_14538delGC	c.(14536-14538)GGCfs	p.G4846fs		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4846	VWFC 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.41			7	10				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	1091052	1091053	10369	11	GC	-	-	42	42	MUC2	-	5	5
SERPINF2	5345	broad.mit.edu	36	17	1597064	1597064	+	Frame_Shift_Del	DEL	T	-	-			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1597064_1597064delT	uc002ftk.1	+	c.369_369delT	c.(367-369)GGTfs	p.G123fs		NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-plasmin inhibitor	123					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)									0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	1597064	1597064	14603	17	T	-	-	59	59	SERPINF2	-	5	5
C19orf26	255057	broad.mit.edu	36	19	1182033	1182034	+	Frame_Shift_Ins	INS	-	G	G			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1182033_1182034insG	uc002lrm.2	-	c.1202_1203insC	c.(1201-1203)CCTfs	p.P401fs		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	437						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.60			6	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	1182033	1182034	1979	19	-	G	G	15	15	C19orf26	G	5	5
ZSCAN18	65982	broad.mit.edu	36	19	63287887	63287888	+	Frame_Shift_Ins	INS	-	G	G			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:63287887_63287888insG	uc002qrh.1	-	c.1509_1510insC	c.(1507-1512)CCCGCAfs	p.P503fs	ZSCAN18_uc002qri.1_Frame_Shift_Ins_p.P503fs|ZSCAN18_uc002qrj.2_Frame_Shift_Ins_p.P502fs|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.1_3'UTR	NM_023926	NP_076415	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	503_504					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	63287887	63287888	18834	19	-	G	G	27	27	ZSCAN18	G	5	5
PATZ1	23598	broad.mit.edu	36	22	30071117	30071118	+	Frame_Shift_Ins	INS	-	T	T			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30071117_30071118insT	uc003akq.1	-	c.471_472insA	c.(469-474)AAACAGfs	p.K157fs	PATZ1_uc003akp.1_Frame_Shift_Ins_p.K157fs|PATZ1_uc003akr.1_Frame_Shift_Ins_p.K157fs|PATZ1_uc003aks.1_Frame_Shift_Ins_p.K157fs	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	157_158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2										104				0.31			67	147				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	30071117	30071118	11896	22	-	T	T	48	48	PATZ1	T	5	5
PIK3R1	5295	broad.mit.edu	36	5	67627003	67627005	+	Splice_Site_Del	DEL	GGT	-	-			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:67627003_67627005delGGT	uc003jva.1	+	c.e14_splice_site			PIK3R1_uc003jvb.1_Splice_Site_Del|PIK3R1_uc003jvc.1_Splice_Site_Del|PIK3R1_uc003jvd.1_Splice_Site_Del|PIK3R1_uc003jve.1_Splice_Site_Del	NM_181523	NP_852664			phosphoinositide-3-kinase, regulatory subunit 1						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.?(3)|p.Y580fs*1(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	99		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)					370	TCGA GBM(4;<1E-8)			0.30			67	156				---	---	---	---	capture_indel			Splice_Site_Del	DEL	67627003	67627005	12342	5	GGT	-	-	35	35	PIK3R1	-	5	5
THBS4	7060	broad.mit.edu	36	5	79367195	79367196	+	Frame_Shift_Ins	INS	-	C	C			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79367195_79367196insC	uc003kgh.1	+	c.79_80insC	c.(79-81)ACCfs	p.T27fs		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	27	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	79367195	79367196	16384	5	-	C	C	6	6	THBS4	C	5	5
RHPN1	114822	broad.mit.edu	36	8	144533440	144533440	+	Frame_Shift_Del	DEL	C	-	-			TCGA-32-1976-01	TCGA-32-1976-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144533440_144533440delC	uc003yyb.1	+	c.1168_1168delC	c.(1168-1170)CCCfs	p.P390fs		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	415	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)											0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	144533440	144533440	13825	8	C	-	-	26	26	RHPN1	-	5	5
