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	uc002fkr.3	+	8	1093	c.872_splice	c.e8-1	p.C291_splice	BANP_uc010vov.2_Splice_Site_p.C266_splice|BANP_uc002fkq.3_Splice_Site_p.C260_splice|BANP_uc002fks.4_Splice_Site_p.C260_splice|BANP_uc002fkp.3_Splice_Site_p.C260_splice|BANP_uc010vow.2_Splice_Site_p.C299_splice|BANP_uc021tml.1_Splice_Site_p.C299_splice|BANP_uc002fko.1_Splice_Site_p.C196_splice	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	291	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				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	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781424	52781424	+	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.chr14:52781424A>G	uc001wzr.3	+	0	409	c.158A>G	c.(157-159)gAc>gGc	p.D53G		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	53						integral to plasma membrane	prostaglandin E receptor activity	p.D53G(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGGCGGGGGGACGTGGGGTGC	0.697000													4	25					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742316	121742316	+	Silent	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.chr2:121742316C>A	uc010flp.3	+	10	1983	c.1953C>A	c.(1951-1953)tcC>tcA	p.S651S	GLI2_uc002tmq.1_Silent_p.S323S|GLI2_uc002tmr.1_Silent_p.S306S|GLI2_uc002tmt.4_Silent_p.S323S|GLI2_uc002tmu.4_Silent_p.S306S|GLI2_uc002tmw.1_Silent_p.S634S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	651					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCGAGAGCTCCGGGGTAAGCG	0.711000													3	45					0	0	1	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	uc002sqw.2	+	18	1545	c.1479G>A	c.(1477-1479)atG>atA	p.M493I	PTCD3_uc002sqx.1_Missense_Mutation_p.M83I|SNORD94_uc010fgr.1_5'Flank	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	493						mitochondrion	protein binding	p.M493I(2)		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	1	0	0
CHD9	80205	broad.mit.edu	37	16	53358249	53358249	+	Silent	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.chr16:53358249C>A	uc002ehb.3	+	37	8300	c.8136C>A	c.(8134-8136)ccC>ccA	p.P2712P	CHD9_uc002egy.3_Silent_p.P2696P|CHD9_uc002ehc.3_Silent_p.P2697P|CHD9_uc002ehf.3_Silent_p.P1810P|CHD9_uc002ehg.2_Silent_p.P1827P|CHD9_uc010cbw.3_Silent_p.P778P	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2712					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTATGTTCCCCATGCTGCTGT	0.498000													3	63					0	0	1	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	uc002nke.3	-	9	1146	c.1110G>C	c.(1108-1110)gcG>gcC	p.A370A	COMP_uc002nkd.3_Silent_p.A337A|COMP_uc010xqj.2_Silent_p.A317A	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	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(2)		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	1	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	uc001hku.1	-	62	13009	c.12622G>A	c.(12622-12624)Gac>Aac	p.D4208N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	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(2)|p.A4207A(2)		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	1	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	uc002koe.1	-	20	2808	c.2690_splice	c.e20-1	p.D897_splice	PPP4R1_uc002kof.2_Splice_Site_p.D314_splice|PPP4R1_uc010wzo.1_Splice_Site_p.D743_splice|PPP4R1_uc002kod.1_Splice_Site_p.D880_splice	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	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	1	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	uc004aji.3	+	6	1008	c.959G>A	c.(958-960)cGt>cAt	p.R320H	RORB_uc004ajh.3_Missense_Mutation_p.R309H	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	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	1	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	uc003abz.1	+	30	5297	c.5047G>A	c.(5047-5049)Gtt>Att	p.V1683I	MYO18B_uc003aca.1_Missense_Mutation_p.V1564I|MYO18B_uc010guy.1_Missense_Mutation_p.V1565I|MYO18B_uc010guz.1_Missense_Mutation_p.V1563I|MYO18B_uc011aka.1_Missense_Mutation_p.V837I|MYO18B_uc011akb.1_Missense_Mutation_p.V1196I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1683	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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	1	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	uc001ilq.1	-	2	939	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	269						endoplasmic reticulum|extracellular region		p.R269W(2)		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	1	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	uc003gno.3	+	2	800	c.541G>A	c.(541-543)Gag>Aag	p.E181K	C1QTNF7_uc011bxb.2_Missense_Mutation_p.E174K|C1QTNF7_uc003gnp.3_Missense_Mutation_p.E174K	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	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	1	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	uc003cxe.4	+	5	8990	c.8876G>A	c.(8875-8877)cGc>cAc	p.R2959H		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2959					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R2959H(2)		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	1	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	uc002kos.2	-	51	8218	c.8044G>A	c.(8044-8046)Ggg>Agg	p.G2682R	PIEZO2_uc002koq.3_Missense_Mutation_p.G474R	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2682						integral to membrane	ion channel activity	p.G2682R(1)|p.G474R(1)									ACAAATTTCCCAATCACAAGG	0.333000													42	132					0	0	1	0	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	uc003tiw.3	-	5	622	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.A146S|URGCP_uc003tiv.3_Missense_Mutation_p.A114S|URGCP_uc003tix.3_Missense_Mutation_p.A180S|URGCP_uc003tiy.3_Missense_Mutation_p.A146S|URGCP_uc003tiz.3_Missense_Mutation_p.A146S|URGCP_uc011kbj.2_Missense_Mutation_p.A146S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	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					0	0	1	0	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	uc003fjk.3	+	7	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		T cell costimulation|T cell receptor signaling pathway|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		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(76)		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	1	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	uc002snr.3	-	3	2095	c.1680C>T	c.(1678-1680)agC>agT	p.S560S	LRRTM4_uc002snq.3_Silent_p.S560S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	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	1	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	uc003mxb.3	+	9	2219	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RREB1_uc021yky.1_Missense_Mutation_p.R576Q|RREB1_uc003mxc.3_Missense_Mutation_p.R576Q|RREB1_uc010jnx.3_Missense_Mutation_p.R576Q|RREB1_uc021ykz.1_Missense_Mutation_p.R576Q|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	576					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R576Q(2)		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	1	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	uc011bop.2	-	2	435	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	SSR3_uc003fau.3_Missense_Mutation_p.R114W	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA.	114					cotranslational protein targeting to membrane	Sec61 translocon complex|integral to endoplasmic reticulum membrane|microsome	protein binding|signal sequence binding	p.R114W(2)		endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCTCCTTCCGAGACATCTTT	0.363000													24	82					0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	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.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													5	13					0	0	1	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	uc002yju.1	-	4	362	c.280_splice	c.e4-1	p.D94_splice	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.D162_splice	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	94					negative regulation of B cell activation|negative regulation of adaptive immune response|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	1	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	uc009yum.1	+	9	832	c.728T>G	c.(727-729)cTg>cGg	p.L243R	ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.L201R|ACER3_uc009yuo.1_Missense_Mutation_p.L148R|ACER3_uc010rsh.1_Missense_Mutation_p.L206R|ACER3_uc010rsi.1_Missense_Mutation_p.L148R|ACER3_uc010rsj.1_Missense_Mutation_p.L148R	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.	243					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to Golgi membrane|integral to endoplasmic reticulum membrane	phytoceramidase activity	p.L243R(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						ACACTTTACCTGAGATATAGG	0.428000													35	193					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041630	65041630	+	Splice_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	uc002anq.3	-	4	519	c.267_splice	c.e4+1	p.N89_splice		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	89	RRM.						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	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068002	57068002	+	Splice_Site	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.chr11:57068002C>T	uc001njr.3	-	10	5514	c.5202_splice	c.e10+1		TNKS1BP1_uc001njq.3_Splice_Site|TNKS1BP1_uc001njs.3_Splice_Site	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.						nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTCACCTCAGTGACTT	0.577000													18	66					0	0	1	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	uc001atb.1	-	4	1072	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	MTHFR_uc001atc.2_Missense_Mutation_p.V269M	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	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	1	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	uc002xli.1	-	1	1845	c.972C>T	c.(970-972)caC>caT	p.H324H		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	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(4)		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	1	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	uc002fmm.2	-	2	593	c.304_splice	c.e2+1	p.H102_splice	CBFA2T3_uc002fml.2_Splice_Site_p.L41_splice|CBFA2T3_uc010cif.1_Splice_Site_p.H41_splice|CBFA2T3_uc002fmn.2_Splice_Site_p.L102_splice	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	102	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Required for nucleolar targeting (in isoform 1).				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					0	0	1	0	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	uc002fha.3	+	6	1251	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	OSGIN1_uc002fhb.3_Silent_p.Y334Y|OSGIN1_uc002fhc.3_Silent_p.Y334Y	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	417					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.Y417Y(2)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGATGCTGTACCCCGAGTACC	0.637000													22	62					0	0	1	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	uc004ddq.3	+	1	347	c.265A>G	c.(265-267)Atc>Gtc	p.I89V		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	89					amino acid transport	integral to membrane	protein binding|transporter activity	p.I89V(2)		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	1	0	0
TMEM141	85014	broad.mit.edu	37	9	139686405	139686405	+	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.chr9:139686405G>A	uc004cje.4	+	2	174	c.128G>A	c.(127-129)gGc>gAc	p.G43D	TMEM141_uc011meg.1_Missense_Mutation_p.G43D	NM_032928	NP_116317	Q96I45	TM141_HUMAN	Homo sapiens transmembrane protein 141 (TMEM141), mRNA.	43						integral to membrane		p.G43D(2)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		GCAGGCACCGGCATGGCCTTT	0.637000											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	272					0	0	1	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	uc001hkh.3	+	1	1631	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	PROX1_uc001hkg.1_Silent_p.S453S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	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 S phase of mitotic cell cycle|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 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(2)		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	1	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	uc004bto.1	+	4	647	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	LCN2_uc011map.1_Missense_Mutation_p.I192V	NM_005564	NP_005555	P80188	NGAL_HUMAN	Homo sapiens lipocalin 2 (LCN2), mRNA.	192					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.I192V(2)|p.P191S(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCTGTCCCAATCGGTAATGG	0.562000													23	48					0	0	1	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	uc010qyy.2	-	0	689	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(2)		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	1	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	uc002fyr.4	-	3	953	c.421C>A	c.(421-423)Cca>Aca	p.P141T	CXCL16_uc002fys.4_Missense_Mutation_p.P141T	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 16 (CXCL16), transcript variant 1, mRNA.	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	0	1	0	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	uc003cbl.4	-	11	2349	c.2153C>G	c.(2152-2154)cCc>cGc	p.P718R	EFHB_uc003cbm.3_Missense_Mutation_p.P588R	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	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	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	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.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000													2	7					0	0	1	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	uc004ddi.2	+	0	882	c.846T>C	c.(844-846)caT>caC	p.H282H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	282	Pro-rich.							p.H282H(3)		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	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55250760	55250772	+	Frame_Shift_Del	DEL	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	uc003jqq.3	-	10	1629_1641	c.1316_1328delTTTGGGTGGAATG	c.(1315-1329)ctttgggtggaatggfs	p.L439fs	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Frame_Shift_Del_p.L150fs|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	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 T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|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	-	-			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	uc003nvb.4	+	1	279_281	c.30_32delGGG	c.(28-33)aaggga>aaa	p.G11del	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_In_Frame_Del_p.G11del|SNORA38_uc003nvd.3_5'Flank|PRRC2A_uc003nve.3_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	11						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	-	-			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	uc003xmi.4	+	3	432	c.198_splice	c.e3+1	p.K66_splice	PLEKHA2_uc011lce.2_Splice_Site_p.K16_splice	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	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	---	---	---	---					
PLIN3	10226	broad.mit.edu	37	19	4847750	4847750	+	Frame_Shift_Del	DEL	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	uc002mbj.2	-	5	964	c.787delC	c.(787-789)cagfs	p.Q263fs	PLIN3_uc002mbk.2_Frame_Shift_Del_p.Q251fs|PLIN3_uc002mbl.3_Frame_Shift_Del_p.Q263fs	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	263					vesicle-mediated transport	Golgi apparatus|endosome membrane|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	---	---	---	---					
