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
COL4A4	1286	broad.mit.edu	37	2	227892726	227892726	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:227892726C>T	ENST00000396625.3	-	42	4181		c.e42-1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCACTGGTCCTTAAAAAAAA	0.463000													9	18					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24175874	24175874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:24175874C>T	ENST00000344921.6	+	8	1336	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.Q359*|SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.Q322*|SMARCB1_ENST00000263121.7_Nonsense_Mutation_p.Q368*			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	368					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.Q368*(2)|p.Q377*(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GATCCGCGACCAGGACAGGAA	0.622000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							31	71					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42282347	42282347	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:42282347C>T	ENST00000399518.3	-	14	2043	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.K490K	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	507	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTACATCATCCTTGACATTGA	0.527000													119	158					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981814	92981814	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:92981814G>A	ENST00000268164.3	+	4	759	c.522G>A	c.(520-522)gaG>gaA	p.E174E	ST8SIA2_ENST00000539113.1_Silent_p.E153E	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	174					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGGGCAGGAGATTGACGCCC	0.602000													27	51					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320840	128320840	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:128320840G>A	ENST00000262462.4	+	2	1506	c.496G>A	c.(496-498)Gta>Ata	p.V166I	SLC27A6_ENST00000506176.1_Missense_Mutation_p.V166I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.V166I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	166					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTTGGAACGGTAGAAGAAAT	0.388000													19	31					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053279	73053279	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:73053279C>T	ENST00000335350.6	+	12	2306	c.1890C>T	c.(1888-1890)gcC>gcT	p.A630A	UNC5B_ENST00000373192.4_Silent_p.A619A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	630	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AAGTCAGTGCCCGTGACTGGA	0.657000													49	29					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320839	128320839	+	Silent	SNP	G	G	A	rs148544932		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:128320839G>A	ENST00000262462.4	+	2	1505	c.495G>A	c.(493-495)acG>acA	p.T165T	SLC27A6_ENST00000506176.1_Silent_p.T165T|SLC27A6_ENST00000395266.1_Silent_p.T165T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	165					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCTTGGAACGGTAGAAGAAA	0.388000													18	30					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077937	179077937	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:179077937G>A	ENST00000502732.1	-	12	2668	c.2465C>T	c.(2464-2466)cCa>cTa	p.P822L	ABL2_ENST00000344730.3_Missense_Mutation_p.P704L|ABL2_ENST00000367623.4_Missense_Mutation_p.P801L|ABL2_ENST00000511413.1_Missense_Mutation_p.P719L|ABL2_ENST00000507173.1_Missense_Mutation_p.P698L|ABL2_ENST00000512653.1_Missense_Mutation_p.P807L|ABL2_ENST00000504405.1_Missense_Mutation_p.P683L|ABL2_ENST00000408940.3_Missense_Mutation_p.P786L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	822	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ATTCTCTTCTGGCTGAGAAGA	0.517000			T	ETV6	AML								10	75					0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623671	46623671	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:46623671C>T	ENST00000371347.5	+	2	450	c.198C>T	c.(196-198)gcC>gcT	p.A66A	SLC25A27_ENST00000411689.2_Silent_p.A66A|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	66					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		p.A66A(1)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGAATCTGCCCCCTATAGGG	0.502000													52	77					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95718529	95718529	+	RNA	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:95718529C>T	ENST00000480546.1	-	0	2768					NR_002319.2																						CCCATGCAGTCCCCTGAGCAG	0.478000													22	7					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959628	16959628	+	RNA	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:16959628G>A	ENST00000412962.1	-	0	74																											CACCCACCAGGGACCCTCCTG	0.602000													5	52					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454588	84454588	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:84454588C>T	ENST00000377084.2	-	1	1940	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	352	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAAACCCGACCCTGGGATGTG	0.537000													57	73					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697297	48697297	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:48697297G>A	ENST00000236495.5	+	7	816	c.766_splice	c.e7+1	p.G256_splice	SLC5A9_ENST00000533824.1_Splice_Site_p.G252_splice|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Splice_Site_p.G231_splice	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	231						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CATGTTTCTGGGTAAGGAAGA	0.522000													20	39					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51503047	51503047	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:51503047C>T	ENST00000396402.1	-	10	1623	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	CYP19A1_ENST00000260433.2_Missense_Mutation_p.M490I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.M490I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.M490I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	490					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGGTAAAGATCATTTCCAGCA	0.448000													106	93					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32449071	32449071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:32449071C>T	ENST00000379923.1	+	21	2754	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACO1_ENST00000309951.5_Nonsense_Mutation_p.Q850*|ACO1_ENST00000541043.1_Nonsense_Mutation_p.Q751*	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	850					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AATGAAAGTCCAGGTCAAGGT	0.478000													19	8					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8775623	8775623	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:8775623G>A	ENST00000343849.2	+	1	138	c.61G>A	c.(61-63)Gag>Aag	p.E21K	CAV3_ENST00000397368.2_Missense_Mutation_p.E21K|SSUH2_ENST00000478513.1_Intron|CAV3_ENST00000472766.1_3'UTR	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	21					cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCACTGCAAGGAGATTGACCT	0.572000													10	40					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60883138	60883138	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:60883138C>T	ENST00000253003.2	+	8	964	c.918C>T	c.(916-918)gtC>gtT	p.V306V	LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	306					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ACGCGGATGTCCAGGAGCGCC	0.627000													16	16					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1992122	1992122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:1992122C>T	ENST00000382722.5	-	13	1758	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.V402M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.V351M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.V402M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.V466M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.V466M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	466	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TATTCCATCACGTTCTCCTGG	0.622000													3	22					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579871	35579871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:35579871C>T	ENST00000373330.1	+	11	2614	c.2440C>T	c.(2440-2442)Cgt>Tgt	p.R814C	ZMYM1_ENST00000359858.4_Missense_Mutation_p.R814C|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	814						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTCCATGATCGTACATTACT	0.358000													27	58					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653829	89653829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:89653829G>A	ENST00000371953.3	+	2	1484	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	43	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|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 cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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 protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|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.0?(37)|p.?(8)|p.Y27fs*1(2)|p.E43fs*11(1)|p.E43*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		AGAAAGACTTGAAGGCGTATA	0.294000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			35	14					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103453274	103453274	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:103453274G>A	ENST00000358392.2	-	30	2770	c.2453C>T	c.(2452-2454)cCa>cTa	p.P818L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P690L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P767L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P806L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	806	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCCTCTTGGGCCAATTTG	0.458000													28	43					0	0	1	0	0
TWIST2	117581	broad.mit.edu	37	2	239757124	239757124	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:239757124C>T	ENST00000448943.2	+	1	452	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_057179.2	NP_476527.1	Q8WVJ9	TWST2_HUMAN	twist family bHLH transcription factor 2	90	Helix-loop-helix motif.				negative regulation of osteoblast differentiation	cytoplasm	DNA binding										CGCGGCGCTGCGCAAGATCAT	0.647000													3	9					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365624	13365624	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:13365624G>A	ENST00000379287.3	-	2	1188	c.524C>T	c.(523-525)tCc>tTc	p.S175F	GFOD1_ENST00000379284.1_Missense_Mutation_p.S72F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	175						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGTGCCCACGGAGTGCAGGCC	0.637000													14	24					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													6	66					0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5466801	5466801	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:5466801C>T	ENST00000381577.3	+	6	908	c.822C>T	c.(820-822)atC>atT	p.I274I	CD274_ENST00000381573.4_Silent_p.I160I|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	274					cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	p.I274I(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		AATGTGGCATCCAAGATACAA	0.343000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								25	11					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101085	92101085	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:92101085G>A	ENST00000377067.3	+	2	606	c.234G>A	c.(232-234)caG>caA	p.Q78Q		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	78						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAGATATCAGATTGCGGCTC	0.428000													58	86					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803375	20803375	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:20803375G>A	ENST00000289416.5	+	11	1853	c.1378G>A	c.(1378-1380)Ggg>Agg	p.G460R	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452R|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	460					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CTATATCACTGGGGACAGAGG	0.378000													69	116					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1401312	1401312	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:1401312G>A	ENST00000406424.4	-	10	1513	c.653C>T	c.(652-654)tCc>tTc	p.S218F	INPP5K_ENST00000320345.6_Missense_Mutation_p.S218F|INPP5K_ENST00000542125.1_Missense_Mutation_p.S198F|INPP5K_ENST00000397335.3_Missense_Mutation_p.S202F|INPP5K_ENST00000421807.2_Missense_Mutation_p.S294F	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	294	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CAGAGACAAGGAGAAGTGTGA	0.612000													86	141					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453559	84453559	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:84453559G>A	ENST00000377084.2	-	1	2969	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	695						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTTAGTCTGAGAGCGAGTG	0.587000													18	26					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560367	210560367	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:210560367C>T	ENST00000360351.4	+	7	3979	c.3473C>T	c.(3472-3474)tCa>tTa	p.S1158L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S1154L|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1158					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCTCCAGAATCATCTCTAATT	0.453000													49	65					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476272	87476272	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:87476272G>A	ENST00000341119.5	-	8	969	c.623C>T	c.(622-624)cCt>cTt	p.P208L		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	208					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ACCTGAGAAAGGTACATCTCT	0.373000													87	73					0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33647303	33647303	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:33647303C>A	ENST00000399022.4	-	1	236	c.65G>T	c.(64-66)aGc>aTc	p.S22I	RPRD1A_ENST00000357384.4_Missense_Mutation_p.S22I|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000319040.6_Missense_Mutation_p.S22I	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	22	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GGTCTGCACGCTCTGCTGCGA	0.622000													5	7					0.014758	0.014808	1	1	0
RNF43	54894	broad.mit.edu	37	17	56435546	56435546	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:56435546G>A	ENST00000584437.1	-	8	3546	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.R531C|RNF43_ENST00000581868.1_Missense_Mutation_p.R404C|RNF43_ENST00000577625.1_Missense_Mutation_p.R404C|RNF43_ENST00000500597.2_Missense_Mutation_p.R490C|RNF43_ENST00000583753.1_Missense_Mutation_p.R490C|RNF43_ENST00000407977.2_Missense_Mutation_p.R531C			Q68DV7	RNF43_HUMAN	ring finger protein 43	531						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAAGGAACGAGGCCGAGAG	0.597000													64	83					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204970382	204970382	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:204970382C>G	ENST00000367172.4	+	28	3753	c.3425C>G	c.(3424-3426)cCc>cGc	p.P1142R	NFASC_ENST00000404076.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.P1127R|NFASC_ENST00000339876.6_Missense_Mutation_p.P1035R|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.P1063R|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.P1035R|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000338515.6_Intron			O94856	NFASC_HUMAN	neurofascin	1142	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AATTTCGGGCCCGGAACTGAC	0.587000													8	24					0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216955	154216955	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:154216955G>A	ENST00000338700.5	+	6	1342	c.1277G>A	c.(1276-1278)gGg>gAg	p.G426E	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.G399E	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	399						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGAAGGAAGGGGACTTTACC	0.557000													31	64					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284145	152284145	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:152284145C>T	ENST00000368799.1	-	3	3252	c.3217G>A	c.(3217-3219)Gat>Aat	p.D1073N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1073	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCACTATCACTGGCCTGA	0.577000									Ichthyosis				259	779					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741862	98741862	+	Missense_Mutation	SNP	C	C	T	rs150999644		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:98741862C>T	ENST00000286067.2	+	1	822	c.715C>T	c.(715-717)Cca>Tca	p.P239S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	239								p.P239S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCTTACAATTCCAGCCCCTAG	0.493000													67	22					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112877	108112877	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:108112877C>T	ENST00000273353.3	-	37	5376		c.e37+1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAGGGACCCACCTCAATGGCT	0.537000													51	62					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28650811	28650811	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:28650811G>A	ENST00000280904.6	-	14	2574	c.2131C>T	c.(2131-2133)Ctg>Ttg	p.L711L	DSC2_ENST00000251081.6_Silent_p.L711L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	711					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGCGTAAACAGGATGCCTGGA	0.348000													22	53					0	0	1	0	0
PTTG2	10744	broad.mit.edu	37	4	37962067	37962067	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:37962067G>A	ENST00000504686.1	+	1	12	c.12G>A	c.(10-12)ctG>ctA	p.L4L	TBC1D1_ENST00000261439.4_Intron|TBC1D1_ENST00000508802.1_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	4					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						TGGCTACTCTGATCTACGTTG	0.438000													17	34					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482222	149482222	+	RNA	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:149482222G>A	ENST00000378016.2	+	0	2896							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGGACGAGCGCTGTGT	0.637000													65	42					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102375280	102375280	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:102375280C>T	ENST00000376131.4	-	5	755	c.660G>A	c.(658-660)ggG>ggA	p.G220G	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Silent_p.G215G	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	215					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGACCGTTTCCCCAACATCAT	0.478000													36	62					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34498027	34498027	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:34498027C>T	ENST00000538621.1	+	7	1041	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	PACSIN1_ENST00000244458.2_Missense_Mutation_p.H266Y|PACSIN1_ENST00000374043.2_Missense_Mutation_p.H224Y	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	266					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAGCTACATCCATGTGTACCG	0.617000													10	26					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													4	62					2.56e-06	2.60399e-06	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112358356	112358356	+	Missense_Mutation	SNP	G	G	A	rs35973273		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:112358356G>A	ENST00000206423.3	-	2	1350	c.397C>T	c.(397-399)Cct>Tct	p.P133S	CCDC80_ENST00000439685.2_Missense_Mutation_p.P133S|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	133										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GACCCCGAAGGGAAACGCAAC	0.592000													55	102					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231738153	231738153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:231738153C>T	ENST00000326427.6	+	2	268	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000409704.2_5'UTR|ITM2C_ENST00000326407.6_Nonsense_Mutation_p.R48*	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	48					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCCACAACATCGATCCAAGAG	0.627000													14	24					0	0	1	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058688	152058688	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:152058688C>T	ENST00000408960.3	-	1	91	c.6G>A	c.(4-6)caG>caA	p.Q2Q	MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	2						integral to membrane				lung(1)	1						CAGGGTCCATCTGCATTGTTC	0.498000													18	41					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91497757	91497757	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:91497757C>T	ENST00000416354.1	+	20	3321	c.3249C>T	c.(3247-3249)ttC>ttT	p.F1083F	KIF20B_ENST00000394289.2_Silent_p.F1053F|KIF20B_ENST00000260753.4_Silent_p.F1013F|KIF20B_ENST00000371728.3_Silent_p.F1053F|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1053					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAATTCTTTCCACTCTAGTA	0.333000													48	23					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137763658	137763658	+	Silent	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:137763658T>C	ENST00000314358.5	+	20	4836	c.4636T>C	c.(4636-4638)Ttg>Ctg	p.L1546L	KDM3B_ENST00000542866.1_Silent_p.L578L|KDM3B_ENST00000394866.1_Silent_p.L1202L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1546	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCCTTTAGGGTTGATAACAGC	0.408000													111	144					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37904009	37904009	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:37904009G>A	ENST00000199447.4	+	9	886	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E172K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	172	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AAAAGTTCTAGAAATTAAAAG	0.274000													6	35					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475518	42475518	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:42475518G>A	ENST00000434000.1	-	9	3975	c.3693C>T	c.(3691-3693)ccC>ccT	p.P1231P	GPATCH8_ENST00000591680.1_Silent_p.P1309P			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1309						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGAAGGTGATGGGCTGGCTTT	0.557000													53	77					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714442	65714442	+	RNA	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:65714442C>T	ENST00000532620.1	+	0	470							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GACCGCAAGCCCAGGGGCCAG	0.607000													21	48					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73572997	73572997	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:73572997A>T	ENST00000326291.6	+	17	2425	c.2087A>T	c.(2086-2088)cAt>cTt	p.H696L	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	696						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTTAAGATGCATAGTAAACAT	0.343000													27	47					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60883139	60883139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:60883139C>T	ENST00000253003.2	+	8	965	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	307					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CGCGGATGTCCAGGAGCGCCT	0.622000													16	16					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33545302	33545302	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:33545302C>T	ENST00000265371.4	-	6	1281	c.756G>A	c.(754-756)gcG>gcA	p.A252A	NRP1_ENST00000374816.3_Silent_p.A252A|NRP1_ENST00000374822.4_Silent_p.A252A|NRP1_ENST00000374867.2_Silent_p.A252A|NRP1_ENST00000374821.5_Silent_p.A252A|NRP1_ENST00000395995.1_Silent_p.A252A|NRP1_ENST00000374823.5_Silent_p.A252A			O14786	NRP1_HUMAN	neuropilin 1	252	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTTTGCTATCGCGCTGTCGG	0.473000													53	24					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49094967	49094967	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:49094967C>T	ENST00000323090.4	+	3	855	c.480C>T	c.(478-480)ttC>ttT	p.F160F	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Silent_p.F175F	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	175					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCGACCAGTTCCTGAGGGACT	0.627000													8	12					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31387101	31387101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:31387101C>T	ENST00000328111.2	+	16	2047	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R568*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R480*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R514*|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	576					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGCCCATTCGAGTCCTGTC	0.587000													11	11					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	27011931	27011931	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:27011931G>C	ENST00000443698.1	+	10	925	c.754G>C	c.(754-756)Gat>Cat	p.D252H	IFT74_ENST00000429045.2_Missense_Mutation_p.D252H|IFT74_ENST00000380062.5_Missense_Mutation_p.D252H|IFT74_ENST00000433700.1_Missense_Mutation_p.D252H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	252						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ACAACAATTGGATTCACAGAA	0.328000													6	4					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53043718	53043718	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:53043718C>T	ENST00000309680.3	-	3	862	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	281	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTCACAAAATCATTCTCAGCA	0.448000													25	49					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128748467	128748467	+	Missense_Mutation	SNP	G	G	A	rs141383757	byFrequency	TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:128748467G>A	ENST00000296464.3	+	17	2465	c.2054G>A	c.(2053-2055)gGc>gAc	p.G685D	HSPA4L_ENST00000439123.2_Missense_Mutation_p.G716D|HSPA4L_ENST00000505726.1_Missense_Mutation_p.G659D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.G685D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	685					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAGAAATACGGCCAGCCTATT	0.323000													34	44					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125233680	125233680	+	RNA	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:125233680C>T	ENST00000439075.1	-	0	1065					NR_026876.1																						TGCCAAGGGACTTACTGCCTC	0.418000													13	3					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101190506	101190506	+	RNA	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:101190506C>T	ENST00000313669.7	+	0	1118				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CCCCGGGGTCCCCCTGGTCCA	0.667000													11	5					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:55540286C>T	ENST00000220676.1	+	4	3992	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1282					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACTTTTTTTCCTAGTGATGG	0.408000													78	161					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102215871	102215871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:102215871G>A	ENST00000335968.3	-	13	1936	c.1720C>T	c.(1720-1722)Caa>Taa	p.Q574*		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	574					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTTTAATTGAAAGGAGAAG	0.383000													67	65					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169802	110169802	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:110169802C>T	ENST00000256578.3	+	7	1246	c.886C>T	c.(886-888)Ccg>Tcg	p.P296S	AMPD2_ENST00000528454.1_Missense_Mutation_p.P178S|AMPD2_ENST00000528667.1_Missense_Mutation_p.P296S|AMPD2_ENST00000358729.4_Missense_Mutation_p.P221S|AMPD2_ENST00000393688.3_Missense_Mutation_p.P177S|AMPD2_ENST00000342115.4_Missense_Mutation_p.P215S|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	296					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCAGATGCCCCGGTGCACCC	0.637000													33	48					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113975899	113975899	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:113975899C>G	ENST00000332556.4	+	8	1165	c.971C>G	c.(970-972)tCc>tGc	p.S324C	LAMP1_ENST00000397181.3_Missense_Mutation_p.S271C	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	324	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCCAACGGCTCCCTGCGAGCG	0.597000													38	68					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122699	39122699	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:39122699G>A	ENST00000355612.2	-	1	445	c.410C>T	c.(409-411)cCt>cTt	p.P137L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	137	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ACATAGAACAGGGAGCTCTTT	0.423000													59	97					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67267828	67267828	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:67267828G>A	ENST00000258201.4	-	13	2025	c.1778C>T	c.(1777-1779)cCc>cTc	p.P593L	FHOD1_ENST00000567687.1_Missense_Mutation_p.P172L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	593	FH1.|Poly-Pro.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCCTTTGATGGGTGGGGGAGG	0.637000													21	5					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936848	15936848	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:15936848G>A	ENST00000504595.1	+	4	1510	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	FBXL7_ENST00000329673.7_Silent_p.R331R|FBXL7_ENST00000510662.1_Silent_p.R296R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	343					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCGGCCTGCGGGAGATCGCCA	0.662000													11	14					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592159	119592159	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:119592159G>A	ENST00000267260.4	+	12	1891	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGACTCCCCGAGCCACCTGG	0.632000													7	12					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977757	70977757	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:70977757G>A	ENST00000393567.2	-	42	6777	c.6627C>T	c.(6625-6627)ctC>ctT	p.L2209L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2209										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTCATCCGGGAGCACACAGC	0.627000													12	23					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17690353	17690353	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:17690353C>T	ENST00000252599.4	+	10	1449	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		TTGAGATCTTCTTCAAGAGAC	0.597000													53	98					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045607	20045607	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:20045607C>T	ENST00000343769.5	+	4	1871	c.1843C>T	c.(1843-1845)Cat>Tat	p.H615Y	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGAGATAATTCATACTGGGGA	0.408000													23	37					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33346697	33346697	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:33346697G>A	ENST00000374796.2	-	7	3124	c.554C>T	c.(553-555)cCc>cTc	p.P185L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P185L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	185	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCCACCCGGGGGTATCATAAC	0.458000													58	54					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196620890	196620890	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:196620890C>T	ENST00000312428.6	-	62	11653	c.11553G>A	c.(11551-11553)gtG>gtA	p.V3851V	DNAH7_ENST00000409063.1_Silent_p.V334V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3851					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAAGTCATTCACATAGCTGC	0.383000													30	45					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198973	86198973	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:86198973C>T	ENST00000361228.3	-	2	1183	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	272					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATATTTCAGTCGTTCTTCCAG	0.393000													70	79					0	0	1	0	0
RAB5B	5869	broad.mit.edu	37	12	56385913	56385913	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:56385913C>T	ENST00000360299.5	+	6	786	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	RAB5B_ENST00000448789.2_Silent_p.L148L|RAB5B_ENST00000553116.1_Silent_p.L189L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	189					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			ACCCCAGAATCTGGGAGGTGC	0.527000													21	39					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38122030	38122030	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:38122030C>T	ENST00000301659.4	+	2	208	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	30					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCATCGACTTCAAGCGCTTCC	0.592000													8	15					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910596	52910596	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:52910596C>T	ENST00000252242.4	-	7	1654	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	422	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGCCAGCTCCCCACGCTGC	0.617000													62	59					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929262	4929262	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:4929262G>A	ENST00000359350.4	+	1	663	c.663G>A	c.(661-663)ttG>ttA	p.L221L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGATCTTGAAGACTATAC	0.458000													91	25					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2943920	2943920	+	Splice_Site	SNP	G	G	C	rs144256817		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:2943920G>C	ENST00000416614.2	-	14	2115	c.2051_splice	c.e14+1	p.R684_splice	NOP14_ENST00000502735.1_Splice_Site_p.R684_splice|NOP14_ENST00000314262.6_Splice_Site_p.R684_splice|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Splice_Site_p.R684_splice|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	684					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCACATACCGGATGTGATTG	0.602000													32	46					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121711907	121711907	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:121711907G>A	ENST00000324774.5	-	2	1251	c.423C>T	c.(421-423)ccC>ccT	p.P141P	CAMKK2_ENST00000404169.3_Silent_p.P141P|CAMKK2_ENST00000392474.2_Silent_p.P141P|CAMKK2_ENST00000412367.2_Silent_p.P141P|CAMKK2_ENST00000446440.2_Silent_p.P141P|CAMKK2_ENST00000347034.2_Silent_p.P141P|CAMKK2_ENST00000392473.2_Silent_p.P141P|CAMKK2_ENST00000337174.3_Silent_p.P141P|CAMKK2_ENST00000402834.4_Silent_p.P141P|CAMKK2_ENST00000538733.1_Silent_p.P141P|CAMKK2_ENST00000535524.1_5'UTR	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	141					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGGCCGCCGGGGCAGCCGAG	0.692000													6	6					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148034	67148034	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:67148034G>A	ENST00000371037.4	+	15	1374	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G437S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	433	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTCGGGCCCTGGTCCGGGGAC	0.592000													84	152					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534165	6534165	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:6534165G>A	ENST00000377748.1	-	8	1227	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	PLEKHG5_ENST00000535355.1_Silent_p.L236L|PLEKHG5_ENST00000537245.1_Silent_p.L246L|PLEKHG5_ENST00000544978.1_Silent_p.L167L|PLEKHG5_ENST00000377737.2_Silent_p.L167L|PLEKHG5_ENST00000377732.1_Silent_p.L204L|PLEKHG5_ENST00000377740.3_Silent_p.L244L|PLEKHG5_ENST00000400913.1_Silent_p.L167L|PLEKHG5_ENST00000400915.3_Silent_p.L223L|PLEKHG5_ENST00000340850.5_Silent_p.L167L|PLEKHG5_ENST00000377725.1_Silent_p.L167L|PLEKHG5_ENST00000377728.3_Silent_p.L167L	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	223					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGCAAACTCAGGGACTTGGAG	0.662000													13	13					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27941432	27941432	+	Silent	SNP	A	A	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:27941432A>G	ENST00000374005.3	-	10	1312	c.1024T>C	c.(1024-1026)Ttg>Ctg	p.L342L	FGR_ENST00000374004.1_Silent_p.L342L|FGR_ENST00000399173.1_Silent_p.L342L|FGR_ENST00000545953.1_Silent_p.L276L	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	342	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAATCCAGCAAGCTGCCTGGG	0.637000													4	10					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24919327	24919327	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:24919327C>T	ENST00000347898.3	+	13	1931	c.1309C>T	c.(1309-1311)Cct>Tct	p.P437S	SLC5A11_ENST00000569071.1_Missense_Mutation_p.P281S|SLC5A11_ENST00000565769.1_Missense_Mutation_p.P373S|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P402S|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P281S|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P402S|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P367S|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P373S|SLC5A11_ENST00000568579.1_Missense_Mutation_p.P367S	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	437					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CCTCTGGATCCCTGTGGTCCA	0.577000													126	163					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030225	95030225	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr14:95030225G>A	ENST00000557004.1	+	2	827	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	SERPINA4_ENST00000555095.1_Missense_Mutation_p.E136K|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E136K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	136					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCATGGGCTGGAAACACGCGT	0.567000													57	28					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160963809	160963809	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:160963809T>G	ENST00000447678.1	-	35	5550	c.5430A>C	c.(5428-5430)caA>caC	p.Q1810H	LPA_ENST00000316300.5_Missense_Mutation_p.Q1810H|LPA_ENST00000484276.1_5'UTR	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4318	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGGCTCCACTTGAGGCTTCC	0.498000													43	23					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121711906	121711906	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:121711906G>A	ENST00000324774.5	-	2	1252	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	CAMKK2_ENST00000404169.3_Missense_Mutation_p.R142W|CAMKK2_ENST00000392474.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000392473.2_Missense_Mutation_p.R142W|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R142W|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R142W|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R142W|CAMKK2_ENST00000535524.1_5'UTR	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	142					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTCGGCCGCCGGGGCAGCCGA	0.692000													6	6					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471362	4471362	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:4471362C>T	ENST00000325719.4	+	1	838	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCATGCACCGTGTAGCCCG	0.512000													124	46					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411976	51411976	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:51411976G>A	ENST00000319760.6	-	1	472	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCAACAGAAGGAAGCAAACCT	0.473000													41	88					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36841161	36841161	+	RNA	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr14:36841161C>T	ENST00000557188.1	+	0	792																											GAAAGCTACTCTATGCTAGTA	0.308000													25	24					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943124	12943124	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:12943124T>A	ENST00000235349.5	-	2	162	c.92A>T	c.(91-93)gAg>gTg	p.E31V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	31										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGCTCCTCCAGGGTGGA	0.597000													100	132					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137126	126137126	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:126137126G>A	ENST00000299308.3	+	8	2047	c.2039G>A	c.(2038-2040)aGg>aAg	p.R680K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	680						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGACAAAAGGGCCATCGTC	0.607000													27	48					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062675	46062675	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:46062675G>A	ENST00000309285.3	-	2	1121	c.765C>T	c.(763-765)atC>atT	p.I255I	XCR1_ENST00000542109.1_Silent_p.I255I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	255					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGCTCCGGATGATCTGGGTCC	0.577000													32	39					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36538010	36538010	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:36538010C>T	ENST00000397293.2	-	4	581	c.234G>A	c.(232-234)agG>agA	p.R78R	APOL3_ENST00000349314.2_Silent_p.R149R|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	149					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AAAACCATTCCCTAAACTGCT	0.453000													33	52					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041212	65041212	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:65041212G>A	ENST00000300069.4	-	5	672	c.405C>T	c.(403-405)atC>atT	p.I135I	RBPMS2_ENST00000560606.1_Silent_p.I24I	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	135							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GGTCCCGTGCGATGAAGTGTG	0.577000													22	63					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115582051	115582051	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:115582051C>T	ENST00000265440.7	-	7	739	c.559G>A	c.(559-561)Gag>Aag	p.E187K	TFEC_ENST00000457268.1_Missense_Mutation_p.E120K|TFEC_ENST00000393485.1_Missense_Mutation_p.E158K|TFEC_ENST00000484212.1_Missense_Mutation_p.E277K|TFEC_ENST00000320239.7_Missense_Mutation_p.E158K	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	187	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTGATGTACTCCACTGATGCT	0.418000													119	93					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69034517	69034517	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:69034517G>A	ENST00000295381.3	+	5	995	c.576G>A	c.(574-576)cgG>cgA	p.R192R	ARHGAP25_ENST00000409220.1_Silent_p.R186R|ARHGAP25_ENST00000467265.1_Silent_p.R153R|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Silent_p.R167R|ARHGAP25_ENST00000409030.3_Silent_p.R185R|ARHGAP25_ENST00000409202.3_Silent_p.R193R|ARHGAP25_ENST00000497079.1_Silent_p.R186R	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	192	Rho-GAP.		R -> W (in dbSNP:rs3749130).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGCACGGCCGGAATGAAGAGG	0.572000													32	40					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544427	82544427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:82544427G>A	ENST00000423517.2	-	7	13212	c.12875C>T	c.(12874-12876)tCc>tTc	p.S4292F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4292F|PCLO_ENST00000437081.1_Missense_Mutation_p.S1012F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4223					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						aggtctggaggaaggtctgga	0.478000													7	25					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6080950	6080950	+	Splice_Site	SNP	T	T	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:6080950T>A	ENST00000400104.3	-	16	1574	c.1373_splice	c.e16-1	p.R458_splice	L3MBTL4_ENST00000317931.7_Splice_Site_p.R458_splice|L3MBTL4_ENST00000400105.2_Splice_Site_p.R458_splice|L3MBTL4_ENST00000535782.1_Splice_Site_p.R271_splice|RP11-793A3.2_ENST00000577935.1_RNA|L3MBTL4_ENST00000284898.6_Splice_Site_p.R458_splice			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	458					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCTGTACAAGTCTGGGCAAAG	0.343000													7	3					0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578083	48578083	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:48578083G>A	ENST00000316554.3	+	1	718	c.178G>A	c.(178-180)Gcc>Acc	p.A60T		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	60						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGACGTGAGGGCCATGAGGGG	0.627000													24	39					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42088290	42088290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:42088290G>A	ENST00000395925.3	-	5	563	c.479C>T	c.(478-480)tCc>tTc	p.S160F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	160					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGATAAGGCGGAAGTCCTGGG	0.493000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				35	20					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106879638	106879638	+	Silent	SNP	A	A	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:106879638A>G	ENST00000379987.2	+	9	1386	c.1170A>G	c.(1168-1170)caA>caG	p.Q390Q	NPNT_ENST00000305572.8_Intron|NPNT_ENST00000514622.1_Intron|NPNT_ENST00000506666.1_Intron|NPNT_ENST00000427316.2_Silent_p.Q420Q|NPNT_ENST00000453617.2_Silent_p.Q407Q	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	390					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTCCACGGCAACCTTCAAATG	0.408000													14	32					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29629639	29629639	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:29629639G>A	ENST00000334018.6	+	10	1138	c.950G>A	c.(949-951)gGg>gAg	p.G317E	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.G317E|EMID1_ENST00000404820.3_Missense_Mutation_p.G317E	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	315	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGTGTCCCTGGGAGTCCTGGT	0.522000													18	36					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27876388	27876388	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:27876388G>T	ENST00000337768.5	-	6	1778	c.1209C>A	c.(1207-1209)ttC>ttA	p.F403L	SUPT7L_ENST00000464789.2_Missense_Mutation_p.F401L|SUPT7L_ENST00000406540.1_Missense_Mutation_p.F401L|SUPT7L_ENST00000405491.1_Missense_Mutation_p.F401L|SUPT7L_ENST00000404798.2_Missense_Mutation_p.F268L	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	403					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AGCGCTGGTTGAAAACAGGGG	0.478000													52	64					2.43468e-25	2.51103e-25	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20738088	20738088	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:20738088C>T	ENST00000404938.2	+	17	2721	c.2069C>T	c.(2068-2070)cCt>cTt	p.P690L	ABCB5_ENST00000258738.6_Missense_Mutation_p.P245L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	245	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCTGAATGGCCTTTTGTGGTT	0.318000													52	31					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42588380	42588380	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:42588380C>A	ENST00000381668.5	-	9	939	c.708G>T	c.(706-708)agG>agT	p.R236S	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R236S	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	236					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTCCATCAAGCCTTATGTTTC	0.373000													22	43					7.41877e-09	7.57226e-09	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				86	49					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166187941	166187941	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:166187941C>T	ENST00000375437.2	+	14	2541	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	SCN2A_ENST00000357398.3_Missense_Mutation_p.L751F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L751F|SCN2A_ENST00000375427.2_Missense_Mutation_p.L751F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	751					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGTGAAACACCTTGTCAACCT	0.418000													46	66					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220155602	220155602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:220155602C>T	ENST00000295718.2	-	21	2980	c.2740G>A	c.(2740-2742)Ggg>Agg	p.G914R	PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Missense_Mutation_p.G885R|PTPRN_ENST00000423636.2_Missense_Mutation_p.G824R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	914	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCGGTCCTCCCCGCACCATCA	0.612000													31	37					0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64008022	64008022	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:64008022G>A	ENST00000492933.1	-	3	534	c.482C>T	c.(481-483)gCc>gTc	p.A161V	PSMD6_ENST00000295901.4_Missense_Mutation_p.A108V|PSMD6_ENST00000394431.2_Missense_Mutation_p.A70V|PSMD6_ENST00000482510.1_Missense_Mutation_p.A69V	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GAGGTACTCGGCCTTTGCCAT	0.448000													53	96					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804556	54804556	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:54804556G>A	ENST00000306858.7	+	5	903	c.787G>A	c.(787-789)Gga>Aga	p.G263R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	263										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATAATTACAGGACAACTTGT	0.363000													29	47					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255255	69255255	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:69255255G>A	ENST00000374552.4	+	8	1214	c.972G>A	c.(970-972)gtG>gtA	p.V324V	EDA_ENST00000524573.1_Silent_p.V319V|EDA_ENST00000374553.2_Silent_p.V322V	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	324					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AGGTGGTGGTGGATGAGAAGC	0.552000													17	8					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110986181	110986181	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:110986181C>T	ENST00000524391.1	-	2	1469	c.437G>A	c.(436-438)aGc>aAc	p.S146N	KCNV1_ENST00000297404.1_Missense_Mutation_p.S146N|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	146						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGAATCGATGCTGAGCTCATC	0.647000													7	17					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440701	10440701	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:10440701C>T	ENST00000245503.5	-	16	2130	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	MYH2_ENST00000397183.2_Silent_p.L582L|MYH2_ENST00000532183.1_Silent_p.L582L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	582	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			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATAGTGAATCAGAGCGAAGT	0.537000													82	119					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22013918	22013918	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:22013918G>A	ENST00000306317.2	-	1	427	c.138C>T	c.(136-138)acC>acT	p.T46T	LGI3_ENST00000424267.2_Silent_p.T46T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	46	LRRNT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGTGTCCCTGGTGCAAGAGC	0.682000													7	1					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63511054	63511054	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:63511054G>A	ENST00000536984.2	+	7	1682	c.988G>A	c.(988-990)Gat>Aat	p.D330N	CDH7_ENST00000323011.3_Missense_Mutation_p.D330N|CDH7_ENST00000397968.2_Missense_Mutation_p.D330N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	330	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACAGGAGCTGGATTTTGAAGC	0.423000													34	58					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039236	248039236	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:248039236G>A	ENST00000366481.3	+	6	954	c.906G>A	c.(904-906)ccG>ccA	p.P302P	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	302	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGGCGCACCCGAGTCTGCTCT	0.562000													23	48					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105932271	105932271	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:105932271T>A	ENST00000357060.3	-	20	2598	c.2483A>T	c.(2482-2484)aAt>aTt	p.N828I	WDR96_ENST00000278064.2_Missense_Mutation_p.N759I|WDR96_ENST00000428666.1_Missense_Mutation_p.N829I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	828										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGTTTGTCATTTTCTTCCAT	0.313000													16	7					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777008	18777008	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:18777008C>T	ENST00000380548.4	+	19	3120	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	927	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCACGGTGGCCCCCTTCGGCT	0.667000													29	5					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578217	58578217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:58578217G>A	ENST00000506786.1	+	5	793	c.239G>A	c.(238-240)tGg>tAg	p.W80*	ZNF135_ENST00000401053.4_Nonsense_Mutation_p.W146*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.W134*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.W122*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.W122*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.W134*			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	134					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GATGGTCTGTGGTACTGCAGG	0.517000													30	48					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74763985	74763985	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:74763985G>A	ENST00000264094.3	-	5	834	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.L255F|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.L255F	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	255	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CAGAGGGAGAGGTGGGCCTCC	0.657000													36	66					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8829585	8829585	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:8829585C>T	ENST00000567812.1	+	2	296	c.34C>T	c.(34-36)Cct>Tct	p.P12S	ABAT_ENST00000396600.2_5'UTR|ABAT_ENST00000268251.8_5'UTR|ABAT_ENST00000425191.2_5'UTR|ABAT_ENST00000569156.1_5'UTR			P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	0					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGTCCCTGTCCCTCAAGGGGT	0.617000													7	5					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652877	46652877	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:46652877C>T	ENST00000253255.5	-	1	6342	c.6343G>A	c.(6343-6345)Gaa>Aaa	p.E2115K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2115					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443000													28	43					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73843167	73843167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:73843167G>A	ENST00000342056.2	+	11	1726	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R424Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R424Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R434Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R415Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R425Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	424					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTAAGGAGCGAGTGCGCATG	0.502000													35	37					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900152	151900152	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:151900152G>A	ENST00000393900.3	-	3	1002	c.649C>T	c.(649-651)Cct>Tct	p.P217S	MAGEA12_ENST00000357916.4_Missense_Mutation_p.P217S|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P217S|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	217	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCAGGGGCACAGTCG	0.562000													134	51					0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062125	97062125	+	Silent	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:97062125T>C	ENST00000395395.2	+	5	375	c.285T>C	c.(283-285)ttT>ttC	p.F95F	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	95				FQPSFPHLV -> IPAKFSPPG (in Ref. 5; AAA70188).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGCCAAGTTTTCCCCACCTGG	0.507000													66	15					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850855	71850855	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:71850855C>T	ENST00000445078.2	+	5	909	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	FOLR3_ENST00000456237.1_Missense_Mutation_p.R282C|FOLR3_ENST00000442948.2_Missense_Mutation_p.R239C			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	238					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGCCCCGTCTCGTGGGATTAT	0.517000													35	21					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43054595	43054595	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:43054595G>C	ENST00000458501.2	+	18	1875	c.1875G>C	c.(1873-1875)tgG>tgC	p.W625C	HGSNAT_ENST00000521576.1_Missense_Mutation_p.W314C|HGSNAT_ENST00000379644.4_Missense_Mutation_p.W597C|HGSNAT_ENST00000297798.7_Missense_Mutation_p.W329C			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	625	Lysosomal targeting region.				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTTTCAGTGGAAGCTGAAGG	0.478000													12	26					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585288	43585288	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:43585288G>A	ENST00000406487.1	-	2	273	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	59	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.P59A(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448000													101	137					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720248	140720248	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:140720248C>T	ENST00000394576.2	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.642000													116	135					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189901529	189901529	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:189901529C>T	ENST00000374866.3	-	52	4200	c.3925_splice	c.e52-1	p.G1309_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1309	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGTATTCACCTATTTTTCA	0.328000													14	8					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039696	248039696	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:248039696C>T	ENST00000366481.3	+	6	1414	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	456	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCAACTCCTCTTATCTTGCC	0.408000													115	65					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015405	21015405	+	Missense_Mutation	SNP	C	C	T	rs143565471		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:21015405C>T	ENST00000381545.3	+	7	760	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.R181C|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R181C|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R181C	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	181					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GAATATGCTTCGTGGCATAGG	0.378000													34	91					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67168328	67168328	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:67168328G>A	ENST00000219139.3	+	8	807	c.619G>A	c.(619-621)Gga>Aga	p.G207R	C16orf70_ENST00000569600.1_Missense_Mutation_p.G207R|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	207										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCTTCGAGATGGAACTGGACC	0.512000													129	211					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12940065	12940065	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:12940065A>T	ENST00000218032.6	+	2	2993	c.2906A>T	c.(2905-2907)gAt>gTt	p.D969V	TLR8_ENST00000311912.5_Missense_Mutation_p.D987V	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	969	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGCTAATGGATGAGAACATG	0.393000													59	22					0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063347	69063347	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:69063347C>T	ENST00000535407.1	+	2	899	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	MYEOV_ENST00000308946.3_Silent_p.L144L|MYEOV_ENST00000441339.2_Silent_p.L144L			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	144										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		ACAAGGCACTCTGTGTGGCAC	0.622000													94	203					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188039	152188039	+	Silent	SNP	T	T	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:152188039T>A	ENST00000368801.2	-	3	6141	c.6066A>T	c.(6064-6066)gcA>gcT	p.A2022A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2022					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCCTGATGCAGAACCAT	0.552000													434	2033					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118479464	118479464	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:118479464A>T	ENST00000349139.4	+	4	501	c.454A>T	c.(454-456)Atc>Ttc	p.I152F	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	152						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAAGGATGCCATCACACAAGC	0.363000													38	56					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773269	141773269	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:141773269C>T	ENST00000389484.3	-	13	3157	c.2186G>A	c.(2185-2187)aGg>aAg	p.R729K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	729					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTACCTTCCTGTGAGTCCC	0.358000										TSP Lung(27;0.18)			14	24					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76649203	76649203	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:76649203T>C	ENST00000264917.5	+	10	1184	c.1139T>C	c.(1138-1140)cTg>cCg	p.L380P	PDE8B_ENST00000340978.3_Missense_Mutation_p.L333P|PDE8B_ENST00000342343.4_Missense_Mutation_p.L360P|PDE8B_ENST00000333194.4_Missense_Mutation_p.L380P|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	380					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CTCAAGAAACTGTGTTGTACC	0.368000													26	37					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52412278	52412278	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:52412278G>A	ENST00000356297.4	-	5	533	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	PXDNL_ENST00000543296.1_Missense_Mutation_p.L145F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	145					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATCTCAGAAGGTCTCCAAAG	0.418000													53	99					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105899	42105899	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:42105899C>G	ENST00000457542.2	+	9	1186	c.900C>G	c.(898-900)aaC>aaG	p.N300K	MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.N188K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.N306K|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.N300K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	306										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCTTTTCAACCCCTCTAACC	0.602000													67	175					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64604591	64604591	+	Silent	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr14:64604591T>C	ENST00000357395.3	+	80	15032	c.3888T>C	c.(3886-3888)tgT>tgC	p.C1296C	SYNE2_ENST00000358025.3_Silent_p.C4911C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.C1296C|SYNE2_ENST00000554584.1_Silent_p.C4828C|SYNE2_ENST00000344113.4_Silent_p.C4911C|SYNE2_ENST00000555002.1_Silent_p.C1545C			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4911					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGAGCTGTCCTGAATTAG	0.458000													36	18					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231956	40231956	+	Splice_Site	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:40231956T>C	ENST00000302541.6	+	10	2007		c.e10+2		MYRIP_ENST00000539167.1_Splice_Site|MYRIP_ENST00000396217.3_Splice_Site|MYRIP_ENST00000444716.1_Splice_Site|MYRIP_ENST00000425621.1_Splice_Site|MYRIP_ENST00000459828.1_Splice_Site	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein						intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACACATCAGGTAATGGAAGTG	0.557000													20	24					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146006	70146006	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:70146006G>T	ENST00000374299.3	-	11	1787	c.1643C>A	c.(1642-1644)cCa>cAa	p.P548Q	SLC7A3_ENST00000298085.4_Missense_Mutation_p.P548Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	548					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCATTAGTGGGAGGAGAGG	0.453000													3	18					0.004672	0.00471984	1	1	0
PLCZ1	89869	broad.mit.edu	37	12	18889205	18889205	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:18889205C>T	ENST00000266505.7	-	3	348	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E27K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E29K|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E27K			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	29					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTAATTTTTCAAGTAACCTC	0.353000													19	17					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427614	97427614	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:97427614G>A	ENST00000377075.2	+	1	976	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	293	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGTGCTCCCGACATGGGCTG	0.552000													46	85					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39278649	39278649	+	Silent	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:39278649T>C	ENST00000399820.3	+	34	3880	c.3726T>C	c.(3724-3726)gaT>gaC	p.D1242D	WDR19_ENST00000288634.7_Silent_p.D1082D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1242					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GGAGACCCGATATATCTGAGA	0.428000													8	156					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28775809	28775809	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:28775809G>A	ENST00000422425.2	+	17	1175	c.1131G>A	c.(1129-1131)gcG>gcA	p.A377A	PLB1_ENST00000327757.5_Silent_p.A366A|PLB1_ENST00000329020.6_Silent_p.A54A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	366	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGAAGGAGCGGAAATCAGAT	0.443000													17	105					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19644444	19644444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:19644444G>A	ENST00000457500.2	-	5	1098	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	ALDH3A1_ENST00000494157.2_Nonsense_Mutation_p.Q184*|ALDH3A1_ENST00000225740.6_Nonsense_Mutation_p.Q257*|ALDH3A1_ENST00000395555.3_Nonsense_Mutation_p.Q257*|ALDH3A1_ENST00000444455.1_Nonsense_Mutation_p.Q257*	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	257					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ATTTGGTTCTGGATCGAGGGG	0.567000													26	43					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128352	56128352	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:56128352C>T	ENST00000303039.3	+	1	662	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGTTGGTTCCTTGATTATAG	0.323000													46	64					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38131251	38131251	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:38131251C>T	ENST00000301659.4	+	10	1123	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	335					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCCTCTATTTCGTTGGAGCCC	0.458000													10	9					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993254	73993254	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:73993254C>T	ENST00000297354.6	-	2	613	c.409_splice	c.e2+1	p.V137_splice	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	137					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										ACATCAGTACCATAGGTGTGC	0.572000													64	111					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79968679	79968679	+	Splice_Site	SNP	T	T	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:79968679T>A	ENST00000265081.6	+	6	1107		c.e6+2			NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3						maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTGGAGAAGATATCCTTTTTG	0.378000								Mismatch excision repair (MMR)					34	73					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2559848	2559848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:2559848G>A	ENST00000358864.1	+	6	717	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	234	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTATCCCCTGGGAAATGAAGA	0.368000													21	39					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542491	55542491	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:55542491G>A	ENST00000220676.1	+	4	6197	c.6049G>A	c.(6049-6051)Gaa>Aaa	p.E2017K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2017					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGGTTAGAGGAAGAAGGTAA	0.313000													36	54					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641212	36641212	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:36641212A>T	ENST00000373448.2	-	3	1245	c.1007T>A	c.(1006-1008)tTa>tAa	p.L336*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.L336*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.L336*|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	336							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TAGTCCCACTAAGGCCTTCAG	0.463000													70	139					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113744028	113744028	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:113744028C>T	ENST00000397030.1	+	26	3075	c.3038C>T	c.(3037-3039)cCc>cTc	p.P1013L	MCF2L_ENST00000375604.2_Missense_Mutation_p.P1037L|MCF2L_ENST00000375597.4_Missense_Mutation_p.P978L|MCF2L_ENST00000423482.2_Missense_Mutation_p.P978L|MCF2L_ENST00000375601.3_Missense_Mutation_p.P984L|MCF2L_ENST00000442652.2_Missense_Mutation_p.P1010L|MCF2L_ENST00000535094.2_Missense_Mutation_p.P980L|MCF2L_ENST00000375608.3_Missense_Mutation_p.P1010L|MCF2L_ENST00000421756.1_Missense_Mutation_p.P984L|MCF2L_ENST00000434480.2_Missense_Mutation_p.P986L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1010					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				ACAAAGCCCCCCGAAAAGGGC	0.577000													22	56					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976856	119976856	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:119976856C>T	ENST00000313400.4	-	3	896	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ASTN2_ENST00000361209.2_Missense_Mutation_p.E266K|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E266K			O75129	ASTN2_HUMAN	astrotactin 2	266						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGAAGCTCTCCCGCGCCTGG	0.592000													53	13					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909649	182909649	+	Silent	SNP	T	T	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:182909649T>G	ENST00000367547.3	-	3	821	c.585A>C	c.(583-585)tcA>tcC	p.S195S	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.S76S	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	267										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGAAACGAGATGATGAGTCTT	0.348000													17	41					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690465	33690465	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:33690465A>T	ENST00000394566.1	-	4	634	c.362T>A	c.(361-363)gTc>gAc	p.V121D	SLFN11_ENST00000308377.4_Missense_Mutation_p.V121D	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	121			V -> F (in dbSNP:rs12453150).			nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGGGGCTTGACAGAGCGATC	0.473000													40	73					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587365	158587365	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:158587365C>T	ENST00000368148.3	-	47	6742	c.6562G>A	c.(6562-6564)Gaa>Aaa	p.E2188K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2185K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2188					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E2188K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTCCTGTTTCTTTGAGCAAT	0.338000													12	32					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146620	70146620	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:70146620G>A	ENST00000335568.5	+	1	404	c.402G>A	c.(400-402)aaG>aaA	p.K134K	UGT2B28_ENST00000511240.1_Silent_p.K134K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	134					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.K134N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTCAAATAAGAAAGTTATGA	0.328000													64	13					0	0	1	0	0
RAD51D	5892	broad.mit.edu	37	17	33433426	33433426	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:33433426G>A	ENST00000345365.6	-	6	810	c.555C>T	c.(553-555)ctC>ctT	p.L185L	RAD51D_ENST00000394589.4_Silent_p.L185L|RAD51D_ENST00000335858.7_Silent_p.L73L|RAD51D_ENST00000590016.1_Silent_p.L205L|RAD51L3-RFFL_ENST00000593039.1_Silent_p.L26L|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000360276.3_Silent_p.L140L|RAD51D_ENST00000460118.2_Silent_p.L66L	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	185					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGCCTCGGAGCTCCTGCA	0.547000								Direct reversal of damage					7	18					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48614415	48614415	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:48614415G>A	ENST00000268933.3	+	2	1077	c.498G>A	c.(496-498)ctG>ctA	p.L166L	EPN3_ENST00000537145.1_Silent_p.L221L|EPN3_ENST00000541226.1_Silent_p.L110L	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	166						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGGGCAGCTGGGCTTCAGCC	0.672000													6	9					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163561	167163561	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:167163561C>T	ENST00000303354.6	-	3	622	c.282G>A	c.(280-282)ggG>ggA	p.G94G	SCN9A_ENST00000409672.1_Silent_p.G94G|SCN9A_ENST00000409435.1_Silent_p.G94G|SCN9A_ENST00000375387.4_Silent_p.G94G			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	94						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGATTGTTTTCCCTTTGTTCA	0.328000													10	23					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540522	169540522	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:169540522G>A	ENST00000340806.6	+	1	813	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	271										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGGAGAAGGTGCCACGCC	0.612000													19	34					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030703	49030703	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:49030703T>C	ENST00000380950.2	-	27	5063	c.4876A>G	c.(4876-4878)Att>Gtt	p.I1626V	CEP152_ENST00000399334.3_Missense_Mutation_p.I1570V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1570					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTTTGACAAATCATATTACTT	0.398000													84	98					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94547420	94547420	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:94547420G>A	ENST00000282020.4	+	14	2452	c.2193_splice	c.e14-1	p.V732_splice	GRID2_ENST00000510992.1_Splice_Site_p.V637_splice	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	732					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTTTCACAGGTAAAATATGG	0.303000													26	40					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1725500	1725500	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:1725500C>T	ENST00000313288.4	+	3	314	c.208C>T	c.(208-210)Cta>Tta	p.L70L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	70						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCACAGGATTCTAAGTCCTAG	0.507000													29	52					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283661	152283661	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:152283661C>T	ENST00000368799.1	-	3	3736	c.3701G>A	c.(3700-3702)gGg>gAg	p.G1234E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1234	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACGTGACCCTGAGTGCCT	0.567000									Ichthyosis				173	477					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106480601	106480601	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:106480601C>T	ENST00000261402.2	-	3	1803	c.424G>A	c.(424-426)Gat>Aat	p.D142N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	142	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTGATGTAATCGTACAGCTCC	0.502000													29	52					0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186274415	186274415	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:186274415G>A	ENST00000424280.1	-	4	1121	c.642C>T	c.(640-642)ttC>ttT	p.F214F	TBCCD1_ENST00000446782.1_Silent_p.F118F|TBCCD1_ENST00000338733.5_Silent_p.F214F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	214					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CTTCAATAAGGAAGCTGAGCG	0.443000													48	41					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900153	151900153	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:151900153G>A	ENST00000393900.3	-	3	1001	c.648C>T	c.(646-648)gcC>gcT	p.A216A	MAGEA12_ENST00000357916.4_Silent_p.A216A|MAGEA12_ENST00000393869.3_Silent_p.A216A|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	216	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCAGGGGCACAGTCGC	0.567000													133	53					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227479	196227479	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:196227479C>T	ENST00000367433.5	-	25	3085	c.2984G>A	c.(2983-2985)cGa>cAa	p.R995Q	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R1019Q			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R1019Q(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCAGTCTTCGGGCCCACTG	0.512000													56	49					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083420	6083420	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:6083420C>T	ENST00000409021.3	-	6	1466	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.M174I|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.M174I|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.M339I|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.M339I	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	339	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTTCTTGTTCATCCGCTTGT	0.517000													41	57					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016291	38016291	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:38016291C>T	ENST00000261439.4	+	3	934	c.579C>T	c.(577-579)atC>atT	p.I193I	TBC1D1_ENST00000508802.1_Silent_p.I193I	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	193						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGGCCCTGATCGACGAGTGCA	0.672000													51	95					0	0	1	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196094	52196094	+	RNA	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:52196094T>C	ENST00000602324.1	-	0	615				MIRLET7E_ENST00000362102.1_RNA	NR_029482.1|NR_029693.1																						GAGATCACTATACGGCCTCCT	0.682000													21	24					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773620	107773620	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:107773620G>T	ENST00000311955.3	-	2	845	c.791C>A	c.(790-792)cCt>cAt	p.P264H		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	264	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCACTGAAAGGATTGAGCTT	0.502000													37	65					3.21399e-22	3.30327e-22	1	1	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902119	206902119	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:206902119C>T	ENST00000367103.3	+	2	537	c.344C>T	c.(343-345)cCg>cTg	p.P115L	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.P115L	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	115	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCCCAGTGCCCGCACATCGTA	0.587000													37	30					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595349	8595349	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:8595349C>T	ENST00000338257.8	-	20	2419	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	718	IQ.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCACCTTCCTCCCGCATCTCC	0.652000													83	155					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188250306	188250306	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:188250306G>A	ENST00000409998.1	-	5	798	c.17C>T	c.(16-18)aCc>aTc	p.T6I	CALCRL_ENST00000392370.3_Missense_Mutation_p.T6I|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.T6I			Q16602	CALRL_HUMAN	calcitonin receptor-like	6						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAAATTCAGGGTACACTTTTT	0.259000													12	32					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766218	171766218	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:171766218G>A	ENST00000311601.5	-	13	2061	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	631					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATTCTGGGGAGTGGCATCT	0.562000													41	53					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22013919	22013919	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:22013919G>A	ENST00000306317.2	-	1	426	c.137C>T	c.(136-138)aCc>aTc	p.T46I	LGI3_ENST00000424267.2_Missense_Mutation_p.T46I	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	46	LRRNT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGTGTCCCTGGTGCAAGAGCA	0.682000													7	1					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101190505	101190505	+	RNA	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:101190505C>T	ENST00000313669.7	+	0	1117				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		ACCCCGGGGTCCCCCTGGTCC	0.667000													11	5					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26359273	26359273	+	Silent	SNP	T	T	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:26359273T>G	ENST00000265944.5	+	14	1468	c.1302T>G	c.(1300-1302)ggT>ggG	p.G434G	MYO3A_ENST00000543632.1_Silent_p.G434G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	434	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGAAAGTGGTGCTGGAAAGA	0.338000													23	10					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365005	30365005	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:30365005G>A	ENST00000305596.3	-	5	667	c.492C>T	c.(490-492)ctC>ctT	p.L164L	CD2BP2_ENST00000569466.1_Silent_p.L164L	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	164					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAGGCAATAGGAGCTCCAAAA	0.647000													11	30					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7851537	7851537	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:7851537C>T	ENST00000380262.3	+	16	3197	c.2272C>T	c.(2272-2274)Cac>Tac	p.H758Y	CNTROB_ENST00000563694.1_Missense_Mutation_p.H758Y|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.H758Y	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	758	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCGCCTGTCCACAAAACCAA	0.552000													43	89					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458755	232458755	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:232458755G>A	ENST00000313965.2	+	1	1181	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	365										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGAGACAGTGGAGCAGAGGAC	0.662000													34	42					0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122343409	122343409	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:122343409C>T	ENST00000261369.4	+	7	660	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	SNX24_ENST00000513881.1_3'UTR|SNX24_ENST00000395451.4_Missense_Mutation_p.H192Y	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	159					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		AGGAGTCCTCCATGGGATATT	0.328000													61	105					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849096	26849096	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:26849096C>T	ENST00000376236.4	+	12	1673	c.1218C>T	c.(1216-1218)acC>acT	p.T406T		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	406	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACACAAGAACCCTTAACCAGT	0.483000													41	19					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999719	45999719	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:45999719G>A	ENST00000400372.1	-	1	762	c.737C>T	c.(736-738)tCc>tTc	p.S246F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	246	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCTGGTAGGAGGAGGCAGG	0.721000													48	89					0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55966692	55966692	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:55966692C>T	ENST00000438389.2	-	3	978	c.144G>A	c.(142-144)acG>acA	p.T48T	ISOC2_ENST00000085068.3_Silent_p.T134T|ISOC2_ENST00000425675.2_Silent_p.T118T	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	118					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGTCCAGGGTCGTGTTCTGTG	0.632000													14	20					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881360	108881360	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:108881360A>T	ENST00000329106.2	+	6	701	c.701A>T	c.(700-702)tAt>tTt	p.Y234F		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	234						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAATCATCTATCACACCTCC	0.413000													40	69					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721115	160721115	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:160721115G>A	ENST00000274547.2	-	11	1729	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	GABRB2_ENST00000353437.6_Silent_p.I466I|GABRB2_ENST00000393959.1_Silent_p.I504I|GABRB2_ENST00000517901.1_Silent_p.I403I|GABRB2_ENST00000517547.1_Silent_p.I306I|GABRB2_ENST00000520240.1_Silent_p.I466I	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	504					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCAATAGACGATGTTGAAGA	0.458000													41	63					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673793	120673793	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:120673793C>T	ENST00000273666.6	+	3	467	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R66W|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R66W|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R66W|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R66W	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	66					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGACAGTTCGGCATGGTTT	0.378000													17	31					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													4	41					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130778039	130778039	+	Splice_Site	SNP	C	C	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:130778039C>A	ENST00000276708.4	-	4	1286	c.404_splice	c.e4-1	p.R135_splice		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	135						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CCAACAGTTTCCTGGGGATTT	0.522000													23	36					3.10358e-05	3.1461e-05	1	1	0
AXL	558	broad.mit.edu	37	19	41749596	41749596	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:41749596G>A	ENST00000301178.4	+	12	1711	c.1521G>A	c.(1519-1521)cgG>cgA	p.R507R	AXL_ENST00000593513.1_Silent_p.R239R|AXL_ENST00000359092.3_Silent_p.R498R	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	507						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACAGTCGTCGGACCACTGAAG	0.557000													63	70					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347640	91347640	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:91347640C>T	ENST00000358859.2	-	1	1313	c.880G>A	c.(880-882)Gtg>Atg	p.V294M	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GCATCACACAcctcctggtca	0.517000													76	119					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556371	53556371	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:53556371C>T	ENST00000371494.4	-	8	1266	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	380						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGCGCAGTGCCGTCCATGTT	0.597000													3	28					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125620300	125620300	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:125620300G>A	ENST00000373670.1	-	12	2956	c.2356C>T	c.(2356-2358)Cac>Tac	p.H786Y	RC3H2_ENST00000357244.2_Missense_Mutation_p.H786Y|RC3H2_ENST00000423239.2_Missense_Mutation_p.H786Y			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	786						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTGAGTGTGGTACTGTGCC	0.468000													64	12					0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34340784	34340784	+	Splice_Site	SNP	A	A	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:34340784A>C	ENST00000293280.2	-	3	372	c.302_splice	c.e3+1	p.I101_splice	CCL23_ENST00000591423.1_Splice_Site_p.I84_splice	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	84					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	TGGCACCTACATGACACCCGG	0.547000													26	33					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908101	139908101	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:139908101C>T	ENST00000297183.6	+	29	5694	c.5570C>T	c.(5569-5571)gCc>gTc	p.A1857V	ANKHD1_ENST00000544120.1_Missense_Mutation_p.A240V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A1857V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.A1857V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCATTTTGCCCTGCTGGCT	0.473000													74	114					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29557308	29557308	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:29557308G>A	ENST00000263702.6	-	1	136	c.111C>T	c.(109-111)tcC>tcT	p.S37S	MECR_ENST00000373791.3_5'UTR|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	37					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CAGGCTCGGCGGATGCGGAGT	0.711000													9	7					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730618	37730618	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:37730618G>A	ENST00000330843.4	-	4	1714	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	568	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGCTAGAAGGAAGAGGAGGA	0.532000													41	45					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802931	170802931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:170802931C>T	ENST00000436636.2	-	25	3318	c.2974G>A	c.(2974-2976)Gag>Aag	p.E992K	TNIK_ENST00000488470.1_Missense_Mutation_p.E937K|TNIK_ENST00000460047.1_Missense_Mutation_p.E929K|TNIK_ENST00000284483.8_Missense_Mutation_p.E984K|TNIK_ENST00000470834.1_Missense_Mutation_p.E955K|TNIK_ENST00000357327.5_Missense_Mutation_p.E963K|TNIK_ENST00000475336.1_Missense_Mutation_p.E900K|TNIK_ENST00000538048.1_Missense_Mutation_p.E944K|TNIK_ENST00000369326.5_Missense_Mutation_p.E970K|TNIK_ENST00000341852.6_Missense_Mutation_p.E908K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	992	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCATCCTCTTCATCTTCA	0.478000													11	13					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190046	49190046	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:49190046G>A	ENST00000406846.2	-	10	2033	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	FSHR_ENST00000346173.3_Silent_p.F576F|FSHR_ENST00000541117.1_Silent_p.F374F|FSHR_ENST00000304421.4_Silent_p.F612F	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	638					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCAGCAGAATGAAGAAATCTC	0.458000									Gonadal Dysgenesis, 46 XX				26	39					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195416	78195416	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:78195416C>T	ENST00000361193.3	+	3	337	c.57C>T	c.(55-57)gcC>gcT	p.A19A	SLC26A11_ENST00000546047.2_Silent_p.A19A|SLC26A11_ENST00000411502.3_Silent_p.A19A|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Silent_p.A19A	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	19						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCGGGATGGCCCCGAGCGCCT	0.682000													10	17					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587190	15587190	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:15587190C>T	ENST00000292609.4	-	2	420	c.291G>A	c.(289-291)gtG>gtA	p.V97V	PGLYRP2_ENST00000340880.4_Silent_p.V97V			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	97					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATGTCGGGCCACCTCCTTGG	0.617000													15	64					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51748166	51748166	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:51748166G>A	ENST00000543196.2	-	11	2071	c.1866C>T	c.(1864-1866)gtC>gtT	p.V622V	GALNT6_ENST00000356317.3_Silent_p.V622V			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	622	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGGTCCTAGACAAAGAGCC	0.562000													6	22					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975508	94975508	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:94975508C>A	ENST00000261226.4	-	2	1016	c.885G>T	c.(883-885)agG>agT	p.R295S	TMCC3_ENST00000551457.1_Missense_Mutation_p.R264S	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	295						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCTTGATCTCCCTCAGTTCCT	0.557000													25	49					1.37878e-21	1.41218e-21	1	1	0
CCDC19	25790	broad.mit.edu	37	1	159858161	159858161	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:159858161T>A	ENST00000426543.2	-	4	598	c.143A>T	c.(142-144)aAg>aTg	p.K48M	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.K133M			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	133						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTCCTTCTCCTTCTTGAAGGC	0.532000													27	43					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032355	46032355	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:46032355C>T	ENST00000334662.2	+	1	360	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	113	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACCTCCTCCCCCTGCCAACAG	0.637000													105	133					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126139294	126139294	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:126139294G>A	ENST00000373631.3	+	13	3812	c.3811G>A	c.(3811-3813)Gag>Aag	p.E1271K	CRB2_ENST00000373629.2_Missense_Mutation_p.E939K	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1271						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGCCCGGCTGGAGATGGACAG	0.647000													12	1					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119004810	119004810	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:119004810G>A	ENST00000350777.2	+	10	1219	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	HINFP_ENST00000527410.1_Silent_p.K406K	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	386	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAACATGAAGATGGCTATAT	0.552000													24	73					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161556	90161556	+	RNA	SNP	G	G	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:90161556G>C	ENST00000567960.1	+	0	292				TUBB8P7_ENST00000564451.1_RNA																							GTGTGGGGCCGGAAACAACTG	0.567000													12	49					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325757	158325757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:158325757C>T	ENST00000444681.2	+	3	762	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CD1E_ENST00000368156.1_Nonsense_Mutation_p.R166*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.R256*|CD1E_ENST00000452291.2_Nonsense_Mutation_p.R67*|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368164.3_Nonsense_Mutation_p.R67*|CD1E_ENST00000368161.3_Nonsense_Mutation_p.R256*|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Nonsense_Mutation_p.R67*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.R166*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.R256*|CD1E_ENST00000434258.1_Nonsense_Mutation_p.R254*	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	256					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGCACTCAGCGAGGGGACGT	0.627000													40	69					0	0	1	0	0
REP15	387849	broad.mit.edu	37	12	27849976	27849976	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:27849976G>A	ENST00000310791.2	+	1	549	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA|RP11-1060J15.4_ENST00000542660.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	161						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					GGATTGCCTGGGTCTGTTTAT	0.453000													51	51					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93595812	93595812	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:93595812G>A	ENST00000394236.3	-	14	2184	c.1868C>T	c.(1867-1869)cCa>cTa	p.P623L	PROS1_ENST00000407433.1_Missense_Mutation_p.P492L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	623	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCAGATACCTGGAAGGCCACC	0.338000													43	57					0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691655	153691655	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:153691655G>A	ENST00000304337.2	-	2	1322	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	168					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AAATAATAAGGAAGTACATTT	0.348000													32	56					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027479	91027479	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:91027479C>T	ENST00000268182.5	+	30	3940	c.3816C>T	c.(3814-3816)gtC>gtT	p.V1272V	IQGAP1_ENST00000560738.1_Silent_p.V700V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1272	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTGTGATGTCCCAGAGCTTC	0.423000													57	82					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37864763	37864763	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:37864763G>A	ENST00000406381.2	+	5	835	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ERBB2_ENST00000541774.1_Missense_Mutation_p.E124K|ERBB2_ENST00000578199.1_Missense_Mutation_p.E109K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E109K|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Missense_Mutation_p.E109K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E109K|ERBB2_ENST00000584450.1_Missense_Mutation_p.E139K|ERBB2_ENST00000269571.5_Missense_Mutation_p.E139K	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	139					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGCCTGCGGGAGCTGCAGCT	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			51	79					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210091	49210091	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:49210091G>A	ENST00000406846.2	-	8	747	c.628C>T	c.(628-630)Cct>Tct	p.P210S	FSHR_ENST00000346173.3_Missense_Mutation_p.P210S|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.P184S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	210					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACATCATTAGGCAATTCTTCT	0.403000									Gonadal Dysgenesis, 46 XX				27	54					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66935637	66935637	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:66935637T>A	ENST00000359742.4	-	3	470	c.230A>T	c.(229-231)aAg>aTg	p.K77M	GRIP1_ENST00000286445.7_Missense_Mutation_p.K77M|GRIP1_ENST00000398016.3_Missense_Mutation_p.K77M			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	77	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TACTCTTGGCTTGCCATCCTT	0.468000													115	141					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34024429	34024429	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:34024429C>T	ENST00000374181.3	-	5	1229	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.D354N|GRM4_ENST00000455714.2_Missense_Mutation_p.D214N|GRM4_ENST00000535756.1_Missense_Mutation_p.D221N|GRM4_ENST00000545715.1_Missense_Mutation_p.D46N|GRM4_ENST00000544773.1_Missense_Mutation_p.D185N	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	354					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			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGGTTGTTGTCCAGCGTGCGG	0.637000													11	16					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936849	15936849	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:15936849G>A	ENST00000504595.1	+	4	1511	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	FBXL7_ENST00000329673.7_Missense_Mutation_p.E332K|FBXL7_ENST00000510662.1_Missense_Mutation_p.E297K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	344					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGCCTGCGGGAGATCGCCAA	0.657000													11	14					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174597	140174597	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:140174597C>T	ENST00000526136.1	+	1	48	c.48C>T	c.(46-48)ctC>ctT	p.L16L	PCDHA2_ENST00000520672.2_Silent_p.L16L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.L16L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCTGCTCTCGCTTCTGC	0.582000													48	70					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659776	206659776	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:206659776G>A	ENST00000360409.3	+	17	3581	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	NRP2_ENST00000357785.5_Silent_p.E925E|NRP2_ENST00000540178.1_Silent_p.E925E|NRP2_ENST00000540841.1_Silent_p.E908E|NRP2_ENST00000412873.2_Silent_p.E908E	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	930					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCTGCTCCGAGGCATGACGGA	0.478000													19	22					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31592963	31592963	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:31592963C>T	ENST00000326132.5	+	5	509	c.350C>T	c.(349-351)cCg>cTg	p.P117L	RNF185_ENST00000426256.2_Missense_Mutation_p.P55L|RNF185_ENST00000266252.7_Intron	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	117						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						AGGCCAGAGCCGGAGAATAGA	0.433000													18	29					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411013	130411013	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:130411013G>A	ENST00000370904.1	-	20	3391	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	IGSF1_ENST00000370903.3_Silent_p.I841I|IGSF1_ENST00000361420.3_Silent_p.I836I|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.I827I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	836	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCGAAATGATTAGAAAGT	0.498000													207	92					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48626277	48626277	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:48626277C>T	ENST00000006658.6	+	5	588	c.468C>T	c.(466-468)gaC>gaT	p.D156D	SPATA20_ENST00000393244.3_Silent_p.D96D|SPATA20_ENST00000356488.4_Silent_p.D140D|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	140					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGAAGGTAGACCGTGAGGAGC	0.587000													22	39					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629357	47629357	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:47629357G>A	ENST00000546455.1	+	4	1242	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E171K					PC-esterase domain containing 1B																		TGTGGGCGAGGAAGTCACCGG	0.617000													29	41					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579604	58579604	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:58579604G>A	ENST00000506786.1	+	5	2180	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	ZNF135_ENST00000401053.4_Silent_p.G608G|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Silent_p.G584G|ZNF135_ENST00000313434.5_Silent_p.G584G|ZNF135_ENST00000511556.1_Silent_p.G596G			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	596					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGAGTGTGGGAAATCCTTCA	0.532000													49	98					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427155	10427155	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:10427155G>A	ENST00000245503.5	-	36	5606	c.5222C>T	c.(5221-5223)tCc>tTc	p.S1741F	MYH2_ENST00000397183.2_Missense_Mutation_p.S1741F|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1741					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGCATTTGGGAAATATCTGT	0.418000													50	57					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2645590	2645590	+	Silent	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:2645590C>T	ENST00000402050.2	+	20	2008	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	IQCE_ENST00000325979.7_Silent_p.I543I|IQCE_ENST00000404984.1_Silent_p.I557I|IQCE_ENST00000438376.2_Silent_p.I592I	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	608	IQ 2.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TCGTCATCATCCAGTCCGCTC	0.692000													24	35					0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580519	39580519	+	RNA	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:39580519C>T	ENST00000432141.1	+	0	641					NR_027695.1																						GTGTGTATGCCTGTGTGAGAA	0.448000													170	201					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70366859	70366859	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:70366859G>A	ENST00000559929.1	-	6	437	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	TLE3_ENST00000317509.8_Intron|TLE3_ENST00000539550.1_Missense_Mutation_p.P63S|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000442299.2_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000558939.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000557997.1_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	124	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCAGATTGGGGAGTCCACGT	0.567000													11	16					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29624046	29624046	+	Missense_Mutation	SNP	C	C	T	rs75650664	by1000genomes	TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:29624046C>T	ENST00000278882.3	+	4	450	c.70C>T	c.(70-72)Cct>Tct	p.P24S	FRG1B_ENST00000358464.4_Missense_Mutation_p.P24S|FRG1B_ENST00000439954.2_Missense_Mutation_p.P29S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATGAGGGCCCTAGTCCTCC	0.279000													5	23					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28609539	28609539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:28609539C>T	ENST00000434452.1	-	4	564	c.410G>A	c.(409-411)tGg>tAg	p.W137*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.W137*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	137	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AATAGGTGCCCATCTCCTCTT	0.413000													31	50					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182400246	182400246	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:182400246G>A	ENST00000397033.2	+	28	3521	c.3091G>A	c.(3091-3093)Gat>Aat	p.D1031N		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	1031					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAAAGCAATGATGATTAAGG	0.308000													72	115					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51465133	51465133	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:51465133T>C	ENST00000376851.3	-	5	888	c.449A>G	c.(448-450)gAt>gGt	p.D150G	KLK6_ENST00000391808.1_Missense_Mutation_p.D43G|KLK6_ENST00000594641.1_Missense_Mutation_p.D150G|KLK6_ENST00000456750.2_Missense_Mutation_p.D43G|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.D150G|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	150	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GTCAGGGAAATCACCTGTTAG	0.572000													31	52					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823080	107823080	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:107823080C>T	ENST00000375915.2	-	3	1280	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	381						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTTTTCTTCTCTCCTGACGTC	0.443000													24	32					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151740681	151740681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:151740681C>T	ENST00000321531.5	+	4	483	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	OAZ3_ENST00000315067.8_Nonsense_Mutation_p.Q106*|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000453029.2_Nonsense_Mutation_p.Q119*|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	103					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	TATCCCATATCAGGCCTTGGA	0.527000													13	24					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648703	41648703	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:41648703G>A	ENST00000313860.7	+	12	1512	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	LIMCH1_ENST00000508501.1_Missense_Mutation_p.M486I|LIMCH1_ENST00000513024.1_Missense_Mutation_p.M315I|LIMCH1_ENST00000512946.1_Missense_Mutation_p.M486I|LIMCH1_ENST00000512632.1_Missense_Mutation_p.M486I|LIMCH1_ENST00000511496.1_Missense_Mutation_p.M327I|LIMCH1_ENST00000514096.1_Missense_Mutation_p.M327I|LIMCH1_ENST00000396595.3_Missense_Mutation_p.M332I|LIMCH1_ENST00000512820.1_Missense_Mutation_p.M474I|LIMCH1_ENST00000509277.1_Missense_Mutation_p.M320I|LIMCH1_ENST00000503057.1_Missense_Mutation_p.M871I|LIMCH1_ENST00000381753.4_Missense_Mutation_p.M320I	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	486					actomyosin structure organization		actin binding|zinc ion binding	p.M486I(1)|p.M871I(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCAATCCCATGAAATACCTGC	0.493000													137	220					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892267	9892267	+	Silent	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:9892267G>A	ENST00000506583.1	-	11	1312	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	SLC2A9_ENST00000264784.3_Silent_p.F394F|SLC2A9_ENST00000309065.3_Silent_p.F365F			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	394					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GGGTCCCAAAGAAGAGGCCCA	0.527000													21	34					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729085	8729085	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:8729085G>A	ENST00000381920.3	+	5	874	c.616G>A	c.(616-618)Gga>Aga	p.G206R	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.G150R	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	206							methyltransferase activity			large_intestine(5)|lung(4)	9						CCTCTTCCGAGGATGTACAGC	0.622000													46	37					0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104750	88104750	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:88104750A>C	ENST00000398392.2	-	1	1709	c.377T>G	c.(376-378)gTc>gGc	p.V126G	CGGBP1_ENST00000482016.1_Missense_Mutation_p.V126G|CGGBP1_ENST00000462901.1_Missense_Mutation_p.V126G|CGGBP1_ENST00000309534.6_Missense_Mutation_p.V126G			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GAAAGCACGGACTGCTGGGTG	0.478000													29	70					0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680759	81680759	+	RNA	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:81680759G>A	ENST00000480805.1	+	0	826					NR_002724.2																						GGGCCCCCAGGAAACACAGGG	0.562000													3	7					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90077243	90077243	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:90077243G>A	ENST00000425867.2	+	1	346	c.62G>A	c.(61-63)gGa>gAa	p.G21E	GPR98_ENST00000405460.2_Intron			Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4360					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			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		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)		TATGACTTTGGAAGAGGGTAT	0.299000													7	10					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967646	4967646	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:4967646delT	ENST00000380373.2	-	1	710	c.685delA	c.(685-687)ttfs	p.I229fs	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGATGCAATTCCCAGTACA	0.433													34	16	---	---	---	---					
AKAP8L	26993	broad.mit.edu	37	19	15521344	15521345	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:15521344_15521345delGG	ENST00000397410.4	-	2	138_139	c.74_75delCC	c.(73-75)cfs	p.P25fs	AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Frame_Shift_Del_p.P25fs	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	25						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATCACAGGTGGGCTGAGCGCT	0.480													2	4	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113740	26113740	+	RNA	DEL	T	T	-			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:26113740delT	ENST00000416563.1	-	0	160																											CCAGAAAAAATATGTGAGAGA	0.343													3	4	---	---	---	---					
NRK	203447	broad.mit.edu	37	X	105161604	105161604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:105161604delA	ENST00000428173.2	+	16	2758	c.2455delA	c.(2455-2457)agfs	p.K819fs	NRK_ENST00000243300.9_Frame_Shift_Del_p.K818fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	818							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACAAGCTCAGAAGCCCATTGA	0.423										HNSCC(51;0.14)			2	4	---	---	---	---					
