Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BANP	54971	broad.mit.edu	37	16	88061088	88061088	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:88061088G>C	ENST00000393207.1	+	8	1092		c.e8-1		BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000479780.2_Splice_Site|BANP_ENST00000393208.2_Splice_Site|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000355163.5_Splice_Site	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.?(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TGTCCTTCCAGGTCACCTTTT	0.612000													10	111					0	0	0.361761	0	0
PTCD3	55037	broad.mit.edu	37	2	86360495	86360495	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:86360495G>A	ENST00000254630.7	+	19	1545	c.1479G>A	c.(1477-1479)atG>atA	p.M493I		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	493						mitochondrion	protein binding	p.M493I(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCCAAACAATGATACATCTTC	0.373000													16	309					0	0	0.520397	0	0
COMP	1311	broad.mit.edu	37	19	18898325	18898325	+	Silent	SNP	C	C	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:18898325C>G	ENST00000542601.2	-	9	1400	c.1011G>C	c.(1009-1011)gcG>gcC	p.A337A	COMP_ENST00000425807.1_Silent_p.A317A|COMP_ENST00000222271.2_Silent_p.A370A			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	370					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.A370A(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGTCGTCGCACGCATCGCCCC	0.697000													39	149					0	0	0.853193	0	0
USH2A	7399	broad.mit.edu	37	1	215848631	215848631	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:215848631C>T	ENST00000366943.2	-	63	13008	c.12622G>A	c.(12622-12624)Gac>Aac	p.D4208N	USH2A_ENST00000307340.3_Missense_Mutation_p.D4208N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4208	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D4208N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTCTCGTCGGCCTGGATT	0.393000										HNSCC(13;0.011)			44	126					0	0	0.870114	0	0
PPP4R1	9989	broad.mit.edu	37	18	9547949	9547949	+	Splice_Site	SNP	G	G	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr18:9547949G>C	ENST00000400556.3	-	20	2764	c.2689_splice	c.e20-1	p.D897_splice	PPP4R1_ENST00000400555.3_Splice_Site_p.D880_splice	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	897					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	p.D897E(1)		large_intestine(1)|skin(2)	3						CCAAGAAATAGTCTGGAAATG	0.478000													24	41					0	0	0.667858	0	0
RORB	6096	broad.mit.edu	37	9	77280437	77280437	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr9:77280437G>A	ENST00000376896.2	+	7	1538	c.926G>A	c.(925-927)cGt>cAt	p.R309H	RORB_ENST00000396204.2_Missense_Mutation_p.R320H	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	320	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R309H(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGAATGTGCCGTGCCTTCAAC	0.313000													54	130					0	0	0.870114	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13711	13711	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrM:13711G>A	ENST00000361567.2	+	1	1375	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	459					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AACGCCTGGCAGCCGGAAGCC	0.483000													3	3					0	0	0.115264	0	0
MYO18B	84700	broad.mit.edu	37	22	26299697	26299697	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr22:26299697G>A	ENST00000335473.7	+	31	5297	c.5047G>A	c.(5047-5049)Gtt>Att	p.V1683I	MYO18B_ENST00000536101.1_Missense_Mutation_p.V1683I|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1684I|MYO18B_ENST00000536204.1_3'UTR	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1683	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.V1684I(1)|p.V1683I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAAAATTGCGTTGCTGGCTT	0.552000													11	13					0	0	0.387290	0	0
CCDC3	83643	broad.mit.edu	37	10	12940424	12940424	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr10:12940424G>A	ENST00000378839.1	-	7	1382	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CCDC3_ENST00000378825.3_Missense_Mutation_p.R269W			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	269						endoplasmic reticulum|extracellular region		p.R269W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CGTTACCCCCGCAGGTAGGGG	0.637000													10	54					0	0	0.387290	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444073	15444073	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr4:15444073G>A	ENST00000295297.4	+	3	800	c.541G>A	c.(541-543)Gag>Aag	p.E181K	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E174K|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.E174K	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	174	C1q.					collagen		p.E174Q(1)|p.E174K(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCTCTTCAACGAGGGAGAGCA	0.443000													15	486					0	0	0.457914	0	0
BSN	8927	broad.mit.edu	37	3	49698154	49698154	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:49698154G>A	ENST00000296452.4	+	6	8990	c.8876G>A	c.(8875-8877)cGc>cAc	p.R2959H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2959					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R2959H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCAAACTGCGCAAGAAGCAG	0.602000													4	31					0	0	0.150653	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671739	10671739	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr18:10671739C>T	ENST00000302079.6	-	51	7854	c.7855G>A	c.(7855-7857)Ggg>Agg	p.G2619R	PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2707R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2682R|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G474R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G639R|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2682						integral to membrane	ion channel activity	p.G2682R(1)|p.G474R(1)									ACAAATTTCCCAATCACAAGG	0.333000													42	132					0	0	0.827153	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	79					0.00909568	0.0100843	0.150653	1	0
URGCP	55665	broad.mit.edu	37	7	43918497	43918497	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr7:43918497C>A	ENST00000336086.6	-	4	2672	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	URGCP_ENST00000447717.3_Missense_Mutation_p.A146S|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S|URGCP_ENST00000453200.1_Missense_Mutation_p.A189S|URGCP_ENST00000443736.1_Missense_Mutation_p.A146S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	189					cell cycle	centrosome|nucleus	GTP binding	p.A146S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAGCAGGGCACAGAGAAGG	0.532000													21	54					3.73194e-20	4.42625e-20	0.592651	1	0
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328000	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	205					0	0	0.217242	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975914	76975914	+	Silent	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:76975914G>A	ENST00000409911.1	-	3	1906	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	LRRTM4_ENST00000409093.1_Silent_p.S560S|LRRTM4_ENST00000409884.1_Silent_p.S560S	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	560						integral to membrane		p.S560S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAGGCCGGGGCTTTCGTCCT	0.587000													54	165					0	0	0.870114	0	0
RREB1	6239	broad.mit.edu	37	6	7230059	7230059	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr6:7230059G>A	ENST00000379938.2	+	10	2264	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RREB1_ENST00000334984.6_Missense_Mutation_p.R576Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R576Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R576Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	576					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R576Q(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCGGCCACGCGGCTCTCCCTG	0.711000													4	13					0	0	0.335167	0	0
SSR3	6747	broad.mit.edu	37	3	156266713	156266713	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:156266713G>A	ENST00000265044.2	-	3	434	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	SSR3_ENST00000496050.1_Missense_Mutation_p.R62W|SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000467789.1_Missense_Mutation_p.R114W|SSR3_ENST00000463503.1_Missense_Mutation_p.R62W|SSR3_ENST00000476217.1_Missense_Mutation_p.R114W	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	114					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	p.R114W(1)		endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCTCCTTCCGAGACATCTTT	0.363000													24	82					0	0	0.654019	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884893	15884893	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr21:15884893T>A	ENST00000285670.2	-	5	659	c.483_splice	c.e5-1	p.D162_splice	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Splice_Site_p.D94_splice	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	94					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.D162V(1)|p.D94V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTTCCTCATCCTTCAGAAA	0.413000													55	146					0	0	0.870114	0	0
ACER3	55331	broad.mit.edu	37	11	76730798	76730798	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr11:76730798T>G	ENST00000532485.1	+	10	832	c.728T>G	c.(727-729)cTg>cGg	p.L243R	ACER3_ENST00000538157.1_Missense_Mutation_p.L201R|ACER3_ENST00000526597.1_Missense_Mutation_p.L148R|ACER3_ENST00000533873.1_Missense_Mutation_p.L206R|ACER3_ENST00000544113.1_Missense_Mutation_p.L110R	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	243					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	p.L243R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						ACACTTTACCTGAGATATAGG	0.428000													35	193					0	0	0.804634	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041630	65041630	+	Translation_Start_Site	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr15:65041630G>A	ENST00000560606.1	-	0	266				RBPMS2_ENST00000300069.4_Splice_Site_p.N89_splice			Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding|nucleotide binding	p.N89N(1)		breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						ACCTACTCACGTTCAGCGCAT	0.512000													30	113					0	0	0.740014	0	0
MTHFR	4524	broad.mit.edu	37	1	11855381	11855381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:11855381C>T	ENST00000376592.1	-	5	933	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M|MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	269					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.V269M(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GACAGCTTCACAAGCTGCCGA	0.582000													19	44					0	0	0.624587	0	0
KIF16B	55614	broad.mit.edu	37	20	16347999	16347999	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr20:16347999A>C	ENST00000408042.1	-	23	4128	c.3971T>G	c.(3970-3972)gTa>gGa	p.V1324G	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.V1324G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GACTAGTTCTACTGTTGACAC	0.433000													47	295					0	0	0.870114	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	65					0	0	0.115264	0	0
JPH2	57158	broad.mit.edu	37	20	42788455	42788455	+	Silent	SNP	G	G	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr20:42788455G>A	ENST00000372980.3	-	2	1844	c.972C>T	c.(970-972)caC>caT	p.H324H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	324					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.H324H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCATAGCCGTGGCGCAGGT	0.662000													4	13					0	0	0.387290	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967911	88967911	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:88967911C>A	ENST00000268679.4	-	2	701		c.e2+1		CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Splice_Site|CBFA2T3_ENST00000360302.2_Splice_Site|CBFA2T3_ENST00000327483.5_Splice_Site	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3						cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGGCTACTTACGTGTGTGTGG	0.677000			T	RUNX1	AML								10	40					9.31168e-06	1.05532e-05	0.435327	1	0
OSGIN1	29948	broad.mit.edu	37	16	83999180	83999180	+	Silent	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:83999180C>T	ENST00000343939.2	+	7	1634	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	OSGIN1_ENST00000361711.3_Silent_p.Y334Y|OSGIN1_ENST00000393306.1_Silent_p.Y334Y			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	417					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.Y417Y(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGATGCTGTACCCCGAGTACC	0.637000													22	62					0	0	0.608945	0	0
XK	7504	broad.mit.edu	37	X	37553558	37553558	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:37553558A>G	ENST00000378616.3	+	2	468	c.265A>G	c.(265-267)Atc>Gtc	p.I89V	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	89					amino acid transport	integral to membrane	protein binding|transporter activity	p.I89V(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGTCTTCTGCATCTACTTTCA	0.408000													19	26					0	0	0.575678	0	0
PROX1	5629	broad.mit.edu	37	1	214171237	214171237	+	Silent	SNP	C	C	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:214171237C>T	ENST00000366958.4	+	2	1967	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000498508.2_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	453					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.S453S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTCTGCCTCCGGCCCTGCCG	0.647000													27	85					0	0	0.788014	0	0
LCN2	3934	broad.mit.edu	37	9	130914560	130914560	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr9:130914560A>G	ENST00000540948.1	+	5	647	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000373017.1_Missense_Mutation_p.I192V|LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000373013.2_Missense_Mutation_p.I194V			P80188	NGAL_HUMAN	lipocalin 2	192					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.I192V(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCTGTCCCAATCGGTAATGG	0.562000													23	48					0	0	0.654019	0	0
OR52A1	23538	broad.mit.edu	37	11	5172911	5172911	+	Missense_Mutation	SNP	C	C	T	rs149615083		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr11:5172911C>T	ENST00000380367.1	-	2	1106	c.689G>A	c.(688-690)cGt>cAt	p.R230H	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230H			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGCAAACGAAAAACTGT	0.428000													30	121					0	0	0.717897	0	0
CXCL16	58191	broad.mit.edu	37	17	4638741	4638741	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr17:4638741G>T	ENST00000293778.6	-	4	843	c.421C>A	c.(421-423)Cca>Aca	p.P141T	CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	122					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						TGAGAAATTGGGGGGCTGGTA	0.547000													3	48					0.115264	0.125074	0.115264	1	0
EFHB	151651	broad.mit.edu	37	3	19924217	19924217	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:19924217G>C	ENST00000295824.9	-	12	2314	c.2153C>G	c.(2152-2154)cCc>cGc	p.P718R	EFHB_ENST00000344838.4_Missense_Mutation_p.P588R	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	718					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.P718R(2)|p.P716R(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACCACAAATGGGGTAACCTAG	0.428000													11	31					0	0	0.361761	0	0
FAM47B	170062	broad.mit.edu	37	X	34961794	34961794	+	Silent	SNP	T	T	C			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:34961794T>C	ENST00000329357.5	+	1	882	c.846T>C	c.(844-846)caT>caC	p.H282H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	282	Pro-rich.							p.H282H(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAGCGTCCCATCTCTGCCCGG	0.622000													32	25					0	0	0.760397	0	0
LINC00971	0	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													5	5	---	---	---	---					
IL6ST	3572	broad.mit.edu	37	5	55250760	55250772	+	Frame_Shift_Del	DEL	CATTCCACCCAAA	CATTCCACCCAAA	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr5:55250760_55250772delCATTCCACCCAAA	ENST00000381298.2	-	11	1628_1640	c.1316_1328delTTTGGGTGGAATG	c.(1315-1329)cgfs	p.LWVEW439fs	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	439	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGTAGTCCATTCCACCCAAAGCATGTTATC	0.347			O		hepatocellular ca								45	290	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31590596	31590598	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr6:31590596_31590598delGGG	ENST00000376033.2	+	2	264_266	c.30_32delGGG	c.(28-33)aaa>aa	p.KG10del	PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_In_Frame_Del_p.KG10del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	10						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CGACTGCCAAGGGAAAGGATGGA	0.547													46	298	---	---	---	---					
PLEKHA2	59339	broad.mit.edu	37	8	38793568	38793569	+	Splice_Site	DEL	GG	GG	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr8:38793568_38793569delGG	ENST00000420274.1	+	3	432	c.198_splice	c.e3+1	p.66_splice	PLEKHA2_ENST00000521746.1_Splice_Site_p.66_splice|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	66	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			ACATCTCGAAGGTAATGTTGAC	0.460													24	203	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118383815	118383816	+	RNA	INS	-	-	CA	rs144051797	by1000genomes	TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr10:118383815_118383816insCA	ENST00000537242.1	+	0	230				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		acttacacattcacacacactg	0.485													3	4	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													12	18	---	---	---	---					
RP11-81H3.2	0	broad.mit.edu	37	12	74669120	74669120	+	RNA	DEL	T	T	-	rs35644413		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr12:74669120delT	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_RNA																							TTTTTTGGGGTTTTTTTTTTT	0.308													2	4	---	---	---	---					
PLIN3	10226	broad.mit.edu	37	19	4847750	4847750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:4847750delG	ENST00000221957.4	-	6	963	c.787delC	c.(787-789)agfs	p.Q263fs	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q251fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	263					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TGTGCCCTCTGCTTGGTGGCT	0.662													9	16	---	---	---	---					
