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
NPM3	10360	broad.mit.edu	37	10	103542084	103542084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:103542084G>A	ENST00000370110.5	-	4	371	c.349C>T	c.(349-351)Caa>Taa	p.Q117*	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	117							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACAGGTGGTTGGAGCTGGAAG	0.592000													6	32					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133913694	133913694	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:133913694C>T	ENST00000220616.4	+	16	3570	c.3530C>T	c.(3529-3531)tCc>tTc	p.S1177F	TG_ENST00000377869.1_Missense_Mutation_p.S1177F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1177	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGGGCTTTTCCCCAGTGCAA	0.647000													11	134					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652473	211652473	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:211652473C>T	ENST00000367002.4	-	3	1656	c.493G>A	c.(493-495)Gac>Aac	p.D165N	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	165					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GTCCTGATGTCGCTGGCGAAG	0.706000													13	28					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036281	71036281	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:71036281T>G	ENST00000333538.5	+	6	1608	c.974T>G	c.(973-975)aTg>aGg	p.M325R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	325	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCCCAGCCATGATAGGCTGC	0.517000													28	102					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256469	84256469	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:84256469G>A	ENST00000308251.4	-	3	982	c.914C>T	c.(913-915)cCa>cTa	p.P305L		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	305						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACGTAGTATGGGGAGATGGC	0.632000													4	37					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66457535	66457535	+	RNA	SNP	T	T	C	rs74360065		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:66457535T>C	ENST00000424345.1	+	0	67																											TGTTTGCTTCTTTCTGTCTCC	0.562000													4	19					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	916903	916903	+	Silent	SNP	G	G	A	rs146258506		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:916903G>A	ENST00000382276.3	+	4	1112	c.963G>A	c.(961-963)gcG>gcA	p.A321A	DMRT1_ENST00000569227.1_Silent_p.A163A	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	321					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AAGCCAGGGCGAGCGGTAGGT	0.532000													8	66					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:176983946C>T	ENST00000367654.2	-	8	1541	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E502K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E502K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E502K			O14525	ASTN1_HUMAN	astrotactin 1	510					cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCCCCATTCGTTCCGAATG	0.493000													68	452					0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456376	30456376	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:30456376C>T	ENST00000478753.2	-	1	1126	c.673G>A	c.(673-675)Gga>Aga	p.G225R	SEPHS2_ENST00000542752.1_Missense_Mutation_p.G168R|SEPHS2_ENST00000500504.2_Missense_Mutation_p.G225R			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	225					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GTGGCAACTCCACCGATTATA	0.552000													17	118					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35074128	35074128	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:35074128G>A	ENST00000378643.3	-	14	2337	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	616					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACTTTGGCAGAGATGTCCGA	0.532000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					12	104					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31093005	31093005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:31093005G>A	ENST00000394979.2	+	1	5783	c.5360G>A	c.(5359-5361)tGg>tAg	p.W1787*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.W1787*			O15015	ZN646_HUMAN	zinc finger protein 646	1787					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAGGAGGAGTGGACGGTGGCC	0.682000													10	56					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43843348	43843348	+	Silent	SNP	C	C	T	rs148879248		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:43843348C>T	ENST00000402924.1	+	8	697	c.534C>T	c.(532-534)tcC>tcT	p.S178S	BLVRA_ENST00000265523.4_Silent_p.S178S	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	178					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGCTGGTCTCCCTCTTTGGGG	0.512000													80	216					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6600035	6600035	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:6600035C>T	ENST00000285599.3	+	9	1395	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	MAN2B2_ENST00000504248.1_Silent_p.I402I	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	453					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGGCCTCCATCGTCCTAGATG	0.637000													18	74					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236154198	236154198	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:236154198G>A	ENST00000264187.6	-	14	2998	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	NID1_ENST00000366595.3_Silent_p.F839F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	972					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGACATGAAGGAACGCCTTTG	0.542000													29	98					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415390	57415390	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:57415390C>T	ENST00000313949.7	+	1	618	c.229C>T	c.(229-231)Cct>Tct	p.P77S	GNAS_ENST00000371075.3_Missense_Mutation_p.P77S|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P77S|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	77					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCAGGTATTCCCTGAGTCCCC	0.657000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			36	128					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73043305	73043305	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:73043305C>T	ENST00000264839.7	+	25	3680	c.3680C>T	c.(3679-3681)tCa>tTa	p.S1227L	RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.S184L|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.S1378L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S1201L|RIMS1_ENST00000401910.3_Missense_Mutation_p.S698L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1378					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAATATAGTTCATTTACCCCC	0.368000													4	14					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435431	7435431	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:7435431C>T	ENST00000319098.4	-	1	1269	c.1176G>A	c.(1174-1176)caG>caA	p.Q392Q	SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	392	Saposin B-type 4.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						AGAAGCTGCCCTGGTTCTCCG	0.617000													21	55					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170403158	170403158	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:170403158G>A	ENST00000453153.2	-	8	1617	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.S424F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	424					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGGAGCAGGGAAATAGCACG	0.413000													6	91					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	650802	650802	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:650802T>C	ENST00000255622.6	+	9	1290	c.1247T>C	c.(1246-1248)gTt>gCt	p.V416A	PDE6B_ENST00000429163.2_Missense_Mutation_p.V137A|PDE6B_ENST00000496514.1_Missense_Mutation_p.V416A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	416	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGGACGAGGTTCTCATGGAG	0.612000													14	60					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136114	66136114	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:66136114G>A	ENST00000357440.2	-	5	672	c.444C>T	c.(442-444)ctC>ctT	p.L148L	SLC29A2_ENST00000546034.1_Silent_p.L148L|SLC29A2_ENST00000544554.1_Silent_p.L148L|SLC29A2_ENST00000311161.7_Silent_p.L148L	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	148					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GCTGCCCGAAGAGGCTGCCCT	0.647000													4	21					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230310	156230310	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:156230310G>A	ENST00000361813.5	-	15	2359	c.2215C>T	c.(2215-2217)Ccg>Tcg	p.P739S	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	739					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GCTCGGAGCGGGGGCAGGTTA	0.552000													21	69					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53282780	53282780	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr13:53282780C>T	ENST00000448904.2	-	6	790	c.680G>A	c.(679-681)aGa>aAa	p.R227K	LECT1_ENST00000377962.3_Missense_Mutation_p.R227K	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	227					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ACTGTGTGGTCTTTTTGTGGT	0.398000													38	115					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119937943	119937943	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:119937943G>A	ENST00000327554.2	+	6	1083	c.618G>A	c.(616-618)caG>caA	p.Q206Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	206										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCATGGGACAGAAATGGGAGC	0.473000													28	109					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184070900	184070900	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:184070900C>T	ENST00000265593.4	-	18	2235	c.2064G>A	c.(2062-2064)cgG>cgA	p.R688R	CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Silent_p.R688R|CLCN2_ENST00000434054.2_Silent_p.R644R|CLCN2_ENST00000344937.7_Silent_p.R671R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	688						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGGTCTCCCCCCGGGCTGCTG	0.617000													4	196					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													3	47					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802107	54802107	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:54802107C>T	ENST00000391745.1	-	10	1448	c.1132G>A	c.(1132-1134)Ggg>Agg	p.G378R	LILRA3_ENST00000251390.3_Missense_Mutation_p.G361R|LILRA3_ENST00000391744.3_Missense_Mutation_p.G297R					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGCTGCCCCCTCCTTGGTC	0.602000													45	124					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276554	152276554	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152276554G>C	ENST00000368799.1	-	3	10843	c.10808C>G	c.(10807-10809)gCa>gGa	p.A3603G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3603	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)			GGAATTCTCTGCATGATGAGT	0.562000									Ichthyosis				16	359					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130374067	130374067	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:130374067G>A	ENST00000529410.1	+	9	992	c.513G>A	c.(511-513)cgG>cgA	p.R171R	L3MBTL3_ENST00000533560.1_Silent_p.R146R|L3MBTL3_ENST00000361794.2_Silent_p.R171R|L3MBTL3_ENST00000368136.2_Silent_p.R171R|L3MBTL3_ENST00000526019.1_Silent_p.R146R|L3MBTL3_ENST00000368139.2_Silent_p.R146R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	171					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGTGTAGTCGGAAGAAAAAAC	0.428000													14	27					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21247899	21247899	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:21247899C>T	ENST00000233242.1	-	16	2469	c.2342G>A	c.(2341-2343)gGa>gAa	p.G781E	APOB_ENST00000399256.4_Missense_Mutation_p.G781E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	781					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGCTCCTCTCCCAAGATGCG	0.512000													13	103					0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95034768	95034768	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:95034768C>A	ENST00000536183.1	-	9	1185	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000222572.3_Missense_Mutation_p.K313N|PON2_ENST00000433091.2_Missense_Mutation_p.K301N	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	313					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TCACTGTAGGCTTCTCAGATA	0.433000													4	130					0.00909568	0.00912631	1	1	0
ERCC6L	54821	broad.mit.edu	37	X	71425190	71425190	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:71425190C>T	ENST00000373657.1	-	3	3660	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.E1143K			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1143					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GGATCCTCTTCTGTATACTTG	0.493000													40	104					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311814	48311814	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:48311814G>A	ENST00000435803.1	+	17	2575	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	851					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCTAAATTGGAAAACTTCTT	0.294000													17	52					0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55907242	55907242	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:55907242C>T	ENST00000247219.5	-	1	92	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	8					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGAACCCGCTCCGGCCAGGGC	0.687000													7	61					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752354	140752354	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:140752354C>T	ENST00000576222.1	+	1	2524	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATGCCTTCTAATTCAGGC	0.323000													3	20					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388766	128388766	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:128388766G>A	ENST00000368227.3	-	12	2421	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Silent_p.F685F|PTPRK_ENST00000368213.5_Silent_p.F685F|PTPRK_ENST00000368207.3_Silent_p.F685F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Silent_p.F685F|PTPRK_ENST00000368226.4_Silent_p.F685F|PTPRK_ENST00000368210.3_Silent_p.F685F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	685					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACCCACAGTGAACGGGGCAG	0.542000													34	67					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52760996	52760996	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:52760996C>T	ENST00000257901.3	-	1	269	c.194G>A	c.(193-195)cGg>cAg	p.R65Q		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	65	Head.				epidermis development	keratin filament	protein binding|structural molecule activity	p.R65Q(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TACAGCTATCCGGGGCCCGCA	0.711000													15	37					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78618594	78618594	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:78618594C>T	ENST00000434584.2	-	2	490	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ITM2A_ENST00000373298.2_Missense_Mutation_p.D96N|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	96						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTTGCAGGATCCTCAGAATCA	0.418000													6	34					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415389	57415389	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:57415389C>T	ENST00000313949.7	+	1	617	c.228C>T	c.(226-228)ttC>ttT	p.F76F	GNAS_ENST00000371075.3_Silent_p.F76F|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Silent_p.F76F|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	76					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.F76F(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCAGGTATTCCCTGAGTCCC	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			36	126					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48107108	48107108	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:48107108G>A	ENST00000422538.3	-	7	937	c.815C>T	c.(814-816)tCa>tTa	p.S272L	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.S209L|ENDOU_ENST00000542202.1_Missense_Mutation_p.S38L|ENDOU_ENST00000229003.3_Missense_Mutation_p.S231L	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	272					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						ATTGCCTCTTGAATAGAGCCC	0.488000													44	147					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261570	6261570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:6261570G>A	ENST00000379936.2	+	4	661	c.546G>A	c.(544-546)tgG>tgA	p.W182*	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	182					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATCCATTGGAACAGCTGCC	0.592000													49	94					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13734499	13734499	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:13734499C>T	ENST00000383314.2	+	4	694	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	RNMT_ENST00000592764.1_Missense_Mutation_p.H152Y|RNMT_ENST00000262173.3_Missense_Mutation_p.H152Y|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Missense_Mutation_p.H152Y|RNMT_ENST00000589866.1_Missense_Mutation_p.H152Y			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	152					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AGTGGCTGCCCATTACAATGA	0.358000													8	107					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422972	26422972	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:26422972G>A	ENST00000335473.7	+	43	7282	c.7032G>A	c.(7030-7032)tcG>tcA	p.S2344S	MYO18B_ENST00000407587.2_Silent_p.S2345S|MYO18B_ENST00000536101.1_Silent_p.S2344S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2344				KS -> LT (in Ref. 5).		nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGAAAAGTCGAAAACCCAAT	0.557000													27	102					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334358	37334358	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:37334358G>A	ENST00000262825.5	+	14	2743	c.2526G>A	c.(2524-2526)cgG>cgA	p.R842R	CSF2RB_ENST00000536485.1_Silent_p.R783R|CSF2RB_ENST00000403662.3_Silent_p.R836R|CSF2RB_ENST00000406230.1_Silent_p.R842R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	836					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCTCGCTCCGGAGTAAACCTT	0.647000													42	246					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147193	26147193	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:26147193G>A	ENST00000331351.5	+	2	1387	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	332					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGTGCCATTCGAATAGGGATC	0.552000													37	229					0	0	1	0	0
MRPL43	84545	broad.mit.edu	37	10	102741276	102741276	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:102741276G>A	ENST00000342071.1	-	6	751	c.680C>T	c.(679-681)tCc>tTc	p.S227F	MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000299179.5_Missense_Mutation_p.P185S|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000370250.4_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Intron	NM_176794.1	NP_789764.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TTTCCCCAAGGAAGATCGGAT	0.388000													14	125					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38934574	38934574	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:38934574G>A	ENST00000216024.2	-	10	906	c.630C>T	c.(628-630)ttC>ttT	p.F210F	DMC1_ENST00000428462.2_Silent_p.F155F	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	210					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTTCTTCATGGAACTTTGCTG	0.353000								Homologous recombination					24	184					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281481	152281481	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152281481G>A	ENST00000368799.1	-	3	5916	c.5881C>T	c.(5881-5883)Cac>Tac	p.H1961Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1961	Ser-rich.		H -> Q (in dbSNP:rs3126079).		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)			CTGTCTTCGTGATGGGACCCA	0.572000									Ichthyosis				57	847					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125298763	125298763	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:125298763G>A	ENST00000339570.5	-	4	811	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SCARB1_ENST00000415380.2_Silent_p.F205F|SCARB1_ENST00000376788.1_Silent_p.F105F|SCARB1_ENST00000540495.1_Silent_p.F168F|SCARB1_ENST00000544327.1_Silent_p.F151F|SCARB1_ENST00000541205.1_Silent_p.F164F|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Silent_p.F205F|SCARB1_ENST00000546215.1_Silent_p.F205F	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	205					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAAATAATCCGAACTTGTCCT	0.527000													24	122					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498915	142498915	+	RNA	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:142498915G>A	ENST00000466254.1	+	0	191																											AGCCCCTCAAGGAGCAGCCCG	0.647000													11	113					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													3	25					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17674444	17674444	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:17674444G>A	ENST00000375448.4	+	10	1082	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	PADI4_ENST00000487048.1_3'UTR|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	352					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGGATGAAATGGAGATCGGCT	0.582000													21	48					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515416	56515416	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:56515416A>G	ENST00000390649.3	+	2	397	c.397A>G	c.(397-399)Atg>Gtg	p.M133V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	133	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTTTGAAAACATGAACCTGCG	0.507000													5	88					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7456804	7456804	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:7456804G>A	ENST00000486284.1	+	5	1402	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L	GRM7_ENST00000389336.4_Silent_p.L376L|GRM7_ENST00000403881.1_Silent_p.L376L|GRM7_ENST00000402647.2_Silent_p.L376L|GRM7_ENST00000357716.4_Silent_p.L376L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	376					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ACTGCAAGTTGACGATTAGTG	0.413000													13	74					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108277528	108277528	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:108277528G>A	ENST00000525729.1	-	3	313	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	C11orf65_ENST00000393084.1_Missense_Mutation_p.R131C|C11orf65_ENST00000529391.1_Missense_Mutation_p.R131C			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	131										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTTTCTATACGATGATACCAG	0.348000													18	54					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241689929	241689929	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:241689929A>T	ENST00000498729.2	-	28	3140	c.2894T>A	c.(2893-2895)gTt>gAt	p.V965D	KIF1A_ENST00000320389.7_Missense_Mutation_p.V864D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	864					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACCAGGGGAACGGGGTACAG	0.652000													15	31					0	0	1	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066196	153066196	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:153066196G>A	ENST00000368751.1	-	2	106	c.32C>T	c.(31-33)cCc>cTc	p.P11L	SPRR2E_ENST00000368750.3_Missense_Mutation_p.P11L|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	11					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGGCAGGGCTGCTTGCA	0.572000													33	127					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731709	50731709	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:50731709C>T	ENST00000442544.2	+	10	2313	c.1697C>T	c.(1696-1698)aCt>aTt	p.T566I	DCC_ENST00000412726.1_Missense_Mutation_p.T414I|DCC_ENST00000581580.1_Missense_Mutation_p.T221I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	566	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGTTCTGCACTGAGGTGTCC	0.488000													57	139					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075548	9075548	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:9075548G>A	ENST00000397910.4	-	3	12101	c.11898C>T	c.(11896-11898)tcC>tcT	p.S3966S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3968	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGATAGTGGAATGAGAAG	0.498000													9	39					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703452	18703452	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:18703452C>T	ENST00000251296.1	+	8	1643	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	420	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACCCACTGGGCTCCACCGACA	0.647000													10	55					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150557643	150557643	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:150557643C>T	ENST00000493429.1	+	6	2495	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	AOC1_ENST00000467291.1_Silent_p.I637I|AOC1_ENST00000360937.4_Silent_p.I637I|AOC1_ENST00000416793.2_Silent_p.I656I|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		GCAGCAGCATCTACCACCAGA	0.612000													30	82					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627729	21627729	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:21627729G>A	ENST00000425654.2	+	19	3076	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E896K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E896K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E847K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	896					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAACATAGGAGAAAAAAGTAA	0.473000													6	28					0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012647	151012647	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:151012647G>A	ENST00000260843.4	-	3	851	c.387C>T	c.(385-387)atC>atT	p.I129I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	129						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGAACACGATGGAAGTAT	0.418000													18	55					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279821	163279821	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:163279821C>T	ENST00000328032.4	-	8	2369	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	KCNH7_ENST00000332142.5_Intron	NM_173162.2	NP_775185.1	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	0					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCGGCACTTTCATTTTGGAAA	0.423000													49	127					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142215268	142215268	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:142215268G>A	ENST00000350721.4	-	34	5954	c.5833C>T	c.(5833-5835)Ctt>Ttt	p.L1945F	ATR_ENST00000383101.3_Missense_Mutation_p.L1881F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1945	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTGCATTAAGGAGAGCATTG	0.478000								Other conserved DNA damage response genes					7	77					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166542	180166542	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:180166542G>A	ENST00000307832.2	-	1	557	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGTGATTCAGTCGATGGCCA	0.542000													21	53					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82984859	82984859	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:82984859C>T	ENST00000529689.1	-	6	951	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	CCDC90B_ENST00000455220.2_Missense_Mutation_p.E164K|CCDC90B_ENST00000529611.1_Missense_Mutation_p.E72K|CCDC90B_ENST00000529073.1_Intron|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E72K			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	173						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				CTGCTCCTTTCTAAGTTGATA	0.289000													7	25					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106840647	106840647	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:106840647C>T	ENST00000276185.4	+	15	1637	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	546						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCCAGGAAATCGAGCCGCTGC	0.597000													22	64					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98080543	98080543	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:98080543G>A	ENST00000419175.1	+	4	846	c.676G>A	c.(676-678)Gag>Aag	p.E226K	DNTT_ENST00000371174.2_Missense_Mutation_p.E226K	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	226	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GGGTATCATAGAGGTAAGGGT	0.468000													19	75					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580066	140580066	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:140580066C>T	ENST00000354757.3	+	1	719	c.719C>T	c.(718-720)cCt>cTt	p.P240L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		240	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACTCCCCTGAATTTGAG	0.498000													20	212					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996634	20996634	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:20996634A>T	ENST00000261383.3	-	48	7429	c.7430T>A	c.(7429-7431)aTa>aAa	p.I2477K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2477	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACCTGCAGTATGATCTTCTT	0.488000													3	41					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895242	36895242	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:36895242C>T	ENST00000310758.4	-	22	2745	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	ELMO1_ENST00000448602.1_Missense_Mutation_p.D700N|ELMO1_ENST00000396045.3_Missense_Mutation_p.D220N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D700N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D402N|ELMO1_ENST00000396040.2_Missense_Mutation_p.D220N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	700					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTTCCAGGTCCAGGAGGCGG	0.572000													45	119					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533049	84533049	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:84533049C>T	ENST00000527857.1	+	0	3071					NR_026851.1																						TGATATTGACCATGACCTTAT	0.448000													6	69					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483240	59483240	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:59483240C>T	ENST00000312828.3	-	2	1556	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	153					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TCCTGCTCCTCCTCCACCGCC	0.657000													17	79					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104319	142104319	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:142104319C>T	ENST00000390379.1	-	0	145																											GGACAAGTATCCATGGTTCAT	0.527000													57	168					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417752	70417752	+	Silent	SNP	G	G	A	rs145217972		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:70417752G>A	ENST00000327305.6	-	9	1743	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	NETO1_ENST00000583169.1_Silent_p.I362I|NETO1_ENST00000299430.2_Silent_p.I361I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	362					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGATCTGTACGATGACAGAGA	0.453000													23	58					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281835	152281835	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152281835G>A	ENST00000368799.1	-	3	5562	c.5527C>T	c.(5527-5529)Cac>Tac	p.H1843Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1843	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)			GTGTGGCTGTGATGAGACCCT	0.532000									Ichthyosis				85	588					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119540090	119540090	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:119540090G>A	ENST00000267260.4	+	2	569	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	61					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						TGGACCCTCAGAAAAGCTGGG	0.532000													9	52					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824413	34824413	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:34824413C>T	ENST00000265109.3	+	15	2753	c.2466C>T	c.(2464-2466)gtC>gtT	p.V822V	RAI14_ENST00000515799.1_Silent_p.V825V|RAI14_ENST00000428746.2_Silent_p.V822V|RAI14_ENST00000512629.1_Silent_p.V793V|RAI14_ENST00000397449.1_Silent_p.V815V|RAI14_ENST00000503673.1_Silent_p.V822V|RAI14_ENST00000506376.1_Silent_p.V814V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	822						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAGAGGTTGTCCAGATTAGAA	0.378000													40	150					0	0	1	0	0
S100A11	6282	broad.mit.edu	37	1	152005158	152005158	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152005158G>A	ENST00000271638.2	-	3	417	c.298C>T	c.(298-300)Cct>Tct	p.P100S	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	100					negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCTGGGAAGGGACAGCCTTG	0.542000													21	36					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713449	42713449	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:42713449C>T	ENST00000244625.2	-	2	926	c.363G>A	c.(361-363)caG>caA	p.Q121Q	TBCC_ENST00000372876.1_Silent_p.Q121Q			Q15814	TBCC_HUMAN	tubulin folding cofactor C	121					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCAAGGCCGCCTGCAGCCGCG	0.627000													25	80					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64627645	64627645	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:64627645G>A	ENST00000498707.1	-	12	2077	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P551S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	579	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATTTCTTTGGGAACACAAAAT	0.483000													14	129					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323184	61323184	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:61323184C>T	ENST00000283752.5	-	8	1023	c.880G>A	c.(880-882)Gac>Aac	p.D294N	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.D242N	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	294					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCCTTGAGGTCATAGCTCTCT	0.493000													33	102					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150321791	150321791	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:150321791C>T	ENST00000520773.1	-	0	1457																											TGGATAGATCCAATTTGGTAT	0.378000													6	25					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513897	113513897	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:113513897T>A	ENST00000541405.1	-	4	1079	c.556A>T	c.(556-558)Atc>Ttc	p.I186F	CKAP2L_ENST00000302450.6_Missense_Mutation_p.I351F			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	351						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTGCTTGATGTTTGGATGT	0.438000													38	140					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220034	48220034	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:48220034C>T	ENST00000263277.3	+	2	416	c.165C>T	c.(163-165)ttC>ttT	p.F55F	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	55					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACGCAGACTTCGACGGCAAGC	0.677000													8	53					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145436	58145436	+	Translation_Start_Site	SNP	T	T	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:58145436T>A	ENST00000540325.1	-	0	235				CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.K22M|CDK4_ENST00000257904.6_Missense_Mutation_p.K22M			P11802	CDK4_HUMAN	cyclin-dependent kinase 4						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K22R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCACGGGCCTTGTACACTGT	0.557000			Mis			melanoma			Hereditary Melanoma				22	63					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89954070	89954070	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:89954070C>T	ENST00000263346.8	+	5	615	c.559C>T	c.(559-561)Cca>Tca	p.P187S	TCF25_ENST00000263347.7_5'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	187					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		ACACTTGAATCCAGACACAGA	0.428000													14	50					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746419	150746419	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:150746419C>T	ENST00000357922.4	+	1	1041	c.447C>T	c.(445-447)ctC>ctT	p.L149L	ASIC3_ENST00000297512.8_Silent_p.L149L|ASIC3_ENST00000349064.5_Silent_p.L149L	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	149					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										TGGCGCAACTCTATGCCCGTG	0.667000													20	88					0	0	1	0	0
IGKV4-1	28908	broad.mit.edu	37	2	89185581	89185581	+	RNA	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:89185581G>A	ENST00000390243.2	+	0	450																											AGTGGCAGCGGGTCTGGGACA	0.522000													19	56					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123178525	123178525	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:123178525C>T	ENST00000264501.4	+	41	6867	c.6494C>T	c.(6493-6495)cCa>cTa	p.P2165L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2165L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2165L			Q2LD37	K1109_HUMAN	KIAA1109	2165					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACATAGACCAGCTCAGCCT	0.443000													17	169					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284892	152284892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152284892G>A	ENST00000368799.1	-	3	2505	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	824	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)			TCTCGTGCCTGCTCATGGTGG	0.572000									Ichthyosis				61	431					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188870	50188870	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:50188870T>C	ENST00000335999.6	-	8	2974	c.2773A>G	c.(2773-2775)Aag>Gag	p.K925E		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	921										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGCTTGCTCTTCTTAAGGCCG	0.667000													4	32					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681604	55681604	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:55681604C>T	ENST00000344514.1	-	1	454	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTGCTATTCCCACCAGATA	0.453000													13	74					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994853	29994853	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:29994853C>T	ENST00000308893.4	+	13	2333	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y	TAOK2_ENST00000279394.3_Silent_p.Y430Y|TAOK2_ENST00000416441.2_Silent_p.Y257Y|TAOK2_ENST00000543033.1_Silent_p.Y430Y	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	430					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGACCCCTACCAGCCAGAGA	0.622000													69	583					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33359770	33359770	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:33359770C>T	ENST00000428849.2	+	1	458	c.8C>T	c.(7-9)cCg>cTg	p.P3L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	3					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACATGGATCCGCAGGTGAGT	0.697000													13	37					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93572898	93572898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:93572898C>T	ENST00000371627.4	+	2	737	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	120					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CCCCAATGCTCGAGATAATTG	0.408000													9	74					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316037	125316037	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:125316037G>A	ENST00000373688.2	+	1	647	c.589G>A	c.(589-591)Gat>Aat	p.D197N		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTCTATTGTGATCCTAGTGC	0.532000													18	138					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908068	139908068	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:139908068C>T	ENST00000297183.6	+	29	5661	c.5537C>T	c.(5536-5538)tCt>tTt	p.S1846F	ANKHD1_ENST00000544120.1_Missense_Mutation_p.S229F|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S1846F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S1846F	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)			TTCCCAGTTTCTCTACCCTTA	0.453000													37	163					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159907525	159907525	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:159907525G>A	ENST00000368094.1	-	4	548	c.351C>T	c.(349-351)atC>atT	p.I117I	IGSF9_ENST00000361509.3_Silent_p.I117I	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	117	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTCTTCAGGGATGTGCTGGT	0.602000													30	79					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160205673	160205673	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:160205673G>A	ENST00000392783.2	-	29	5477	c.4982C>T	c.(4981-4983)tCa>tTa	p.S1661L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.S1625L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S1627L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.S1561L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATTTCCTTCTGATAACCCTAA	0.418000													26	92					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498665	73498665	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:73498665G>A	ENST00000321617.3	-	18	3076	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	CASKIN2_ENST00000433559.2_Silent_p.T748T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	830	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGCCGCCGGGTAAGGGTAG	0.692000													6	15					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554593	11554593	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:11554593G>A	ENST00000262442.3	+	13	2373	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D769N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	769	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAAATATTGATCTCCGCCT	0.433000													32	80					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848946	73848946	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:73848946G>A	ENST00000523207.1	+	3	1944	c.1356G>A	c.(1354-1356)atG>atA	p.M452I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	452					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCGTTTCTATGAACTTAAAAG	0.473000													45	207					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13807748	13807748	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:13807748C>T	ENST00000265104.4	-	47	7943	c.7839G>A	c.(7837-7839)atG>atA	p.M2613I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2613	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCTTGATCATGTGACATT	0.383000									Kartagener syndrome				11	21					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79323746	79323746	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:79323746A>T	ENST00000419573.3	-	8	1532	c.1258T>A	c.(1258-1260)Tcc>Acc	p.S420T	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.S420T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	420	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCACCTGGACAGCTCCTCC	0.617000													8	12					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96199491	96199491	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:96199491C>T	ENST00000453304.1	-	4	861	c.513G>A	c.(511-513)caG>caA	p.Q171Q	UNC5C_ENST00000504962.1_Silent_p.Q171Q|UNC5C_ENST00000506749.1_Silent_p.Q171Q	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	171	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTAGGGGTTCCTGCTCAAATG	0.393000													5	47					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038149	16038149	+	Splice_Site	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:16038149C>T	ENST00000326742.7	-	4	399	c.397_splice	c.e4-1	p.G133_splice	CYP4F11_ENST00000402119.3_Splice_Site_p.G133_splice|CYP4F11_ENST00000248041.7_Splice_Site_p.G133_splice			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	133					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAGCCCATCCCCTGGCAGGGC	0.552000													55	157					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7520791	7520791	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:7520791G>A	ENST00000313599.3	-	17	4132	c.4075C>T	c.(4075-4077)Cat>Tat	p.H1359Y	CD163L1_ENST00000416109.2_Missense_Mutation_p.H1369Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.H1359Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1359				H -> R (in Ref. 1; AAF91396 and 2; AAQ89215).		extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGTGCTAAATGACCTGTATAG	0.353000													13	27					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476093	6476093	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:6476093G>A	ENST00000297056.6	-	3	488	c.319C>T	c.(319-321)Cca>Tca	p.P107S	DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.P66S|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000425398.2_Missense_Mutation_p.P107S|DAGLB_ENST00000479922.2_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	107					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		ACCATCTCTGGAAAAAACAGC	0.537000													4	193					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17723605	17723605	+	RNA	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:17723605G>A	ENST00000434762.2	+	0	1708							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCTGGCTGATGAAAGCCTGAA	0.567000													8	34					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131783377	131783377	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:131783377G>A	ENST00000372564.3	-	3	472	c.327C>T	c.(325-327)acC>acT	p.T109T	SH3GLB2_ENST00000372559.1_Silent_p.T109T|SH3GLB2_ENST00000416629.1_Silent_p.T109T|SH3GLB2_ENST00000417224.1_Silent_p.T109T|SH3GLB2_ENST00000372554.4_Silent_p.T109T	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	109	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CACCATAGGGGGTGGTCGGCC	0.547000													20	55					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280510	152280510	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152280510G>A	ENST00000368799.1	-	3	6887	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2284	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)			CTTCGTGATGGGACCTGGGGT	0.552000									Ichthyosis				61	712					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6078216	6078216	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:6078216G>A	ENST00000199389.6	-	10	1352	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G	EIF2AK1_ENST00000536084.1_Silent_p.G278G	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	402	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CATACTCCCGGCCCCGCTTGT	0.567000													42	134					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107920792	107920792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:107920792G>A	ENST00000328300.6	+	44	4115	c.3871G>A	c.(3871-3873)Gga>Aga	p.G1291R	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1285R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1285	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGAGAGAAGGGAAATCCAGG	0.483000									Alport syndrome with Diffuse Leiomyomatosis				24	75					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874021	144874021	+	Missense_Mutation	SNP	G	G	A	rs142425746		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:144874021G>A	ENST00000369359.4	-	34	5382	c.5344C>T	c.(5344-5346)Cat>Tat	p.H1782Y	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H1646Y|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H1646Y|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H1602Y|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1646					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCGAATGATGGATGGAATCT	0.463000			T	PDGFRB	MPD								19	433					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357638	46357638	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr13:46357638C>T	ENST00000400405.2	-	2	796	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	230					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGTCCCCGTCCGTAATCACCG	0.607000													17	88					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52255316	52255316	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:52255316T>G	ENST00000354831.7	-	32	3575	c.3386A>C	c.(3385-3387)aAg>aCg	p.K1129T	NRD1_ENST00000352171.7_Missense_Mutation_p.K1061T|NRD1_ENST00000539524.1_Missense_Mutation_p.K997T|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1060				DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1).	cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGAGAATGACTTCAGTGCTTC	0.443000													15	65					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191470	152191470	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152191470C>G	ENST00000368801.2	-	3	2710	c.2635G>C	c.(2635-2637)Ggc>Cgc	p.G879R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	879					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)			CGGCCGCGGCCCGAAGCGTGA	0.617000													46	115					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284416	152284416	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152284416G>A	ENST00000368799.1	-	3	2981	c.2946C>T	c.(2944-2946)tcC>tcT	p.S982S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	982	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)			TGGGGTGTCTGGAGCCATGTC	0.562000									Ichthyosis				61	456					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157214730	157214730	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:157214730G>A	ENST00000523094.1	-	12	2007	c.1802C>T	c.(1801-1803)cCc>cTc	p.P601L	CLINT1_ENST00000530742.1_Missense_Mutation_p.P601L|CLINT1_ENST00000523908.1_Missense_Mutation_p.P619L|CLINT1_ENST00000411809.2_Missense_Mutation_p.P601L|CLINT1_ENST00000296951.5_Missense_Mutation_p.P601L	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	601	Met-rich.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTATGTTGGGCATGCCCAT	0.458000													77	208					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135488088	135488088	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:135488088G>A	ENST00000394143.1	+	23	9183	c.8892G>A	c.(8890-8892)agG>agA	p.R2964R	GPR112_ENST00000412101.1_Silent_p.R2759R|GPR112_ENST00000394141.1_Silent_p.R2759R|GPR112_ENST00000287534.4_Silent_p.R2717R|GPR112_ENST00000370652.1_Silent_p.R2964R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2964					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACCCATGAGGAACTTTTTCT	0.453000													67	267					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95826308	95826308	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:95826308T>G	ENST00000524717.1	-	2	2171	c.887A>C	c.(886-888)gAc>gCc	p.D296A		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	296					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTCTCCAGGGTCGTCTCCGTA	0.473000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								13	111					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2147187	2147187	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:2147187G>A	ENST00000262304.4	-	34	10669	c.10461C>T	c.(10459-10461)acC>acT	p.T3487T	PKD1_ENST00000423118.1_Silent_p.T3486T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3487					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGTGTCTTGGGTAGGGGCTG	0.652000													4	6					0	0	1	0	0
SMIM21	284274	broad.mit.edu	37	18	73122862	73122862	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:73122862A>G	ENST00000579022.1	-	3	402	c.263T>C	c.(262-264)tTt>tCt	p.F88S	RP11-321M21.3_ENST00000578340.1_Intron|SMIM21_ENST00000382638.3_Silent_p.L44L|RP11-321M21.3_ENST00000579386.1_Intron	NM_001037331.2	NP_001032408.1			small integral membrane protein 21																		CAAACGTAGAAAGCTGCAAGA	0.343000													20	52					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062813	76062813	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:76062813C>T	ENST00000416245.1	+	3	1127	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	ZP3_ENST00000394857.3_Missense_Mutation_p.P188S|ZP3_ENST00000336517.4_Missense_Mutation_p.P137S			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	188					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GAAGAGGTCCCCCACCTTCCA	0.607000													40	120					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668448	20668448	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:20668448C>T	ENST00000404938.2	+	4	898	c.246C>T	c.(244-246)gtC>gtT	p.V82V		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	271	ABC transporter 1.				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						GATGTCTAGTCCAAACTAACA	0.383000													10	43					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067178	190067178	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:190067178C>T	ENST00000367462.3	-	8	2502	c.2271G>A	c.(2269-2271)atG>atA	p.M757I	FAM5C_ENST00000534846.1_Missense_Mutation_p.M655I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		757						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTCATAATCCATTGTGTTTG	0.403000													30	133					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344320	344320	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:344320G>A	ENST00000343164.4	-	7	819	c.767C>T	c.(766-768)cCt>cTt	p.P256L	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P164L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	256					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCTGCCCCAGGCAACGTCAC	0.552000													28	54					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009793	58009793	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:58009793C>T	ENST00000286494.4	+	13	1873	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.F510F|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	471	Sufficient to bind activated GNAQ.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AACGGGACTTCCTCAACGGTG	0.567000													52	92					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923558	24923558	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:24923558C>T	ENST00000329468.2	+	1	3018	c.2544C>T	c.(2542-2544)atC>atT	p.I848I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGGAGTACATCCGATTTTATA	0.498000													24	69					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188654	32188654	+	Splice_Site	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:32188654A>G	ENST00000375023.3	-	5	939	c.799_splice	c.e5-1	p.G267_splice		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	267	EGF-like 6.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCTATGAAACCTGACAGGG	0.612000													13	140					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586517	143586517	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:143586517C>T	ENST00000507359.2	+	2	1331	c.240C>T	c.(238-240)ttC>ttT	p.F80F	KCTD16_ENST00000512467.1_Silent_p.F80F	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	80	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAGATGGATTCTTGTTCCGTT	0.458000													4	53					0	0	1	0	0
ISG15	9636	broad.mit.edu	37	1	949800	949800	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:949800C>T	ENST00000379389.4	+	2	591	c.440C>T	c.(439-441)aCc>aTc	p.T147I		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	147	Ubiquitin-like 2.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCCCTGAGCACCGTGTTCATG	0.662000													13	68					0	0	1	0	0
MIR494	574452	broad.mit.edu	37	14	101495993	101495993	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:101495993C>T	ENST00000349529.2	+	0	23					NR_030174.1																						AGAGGTTGTCCGTGTTGTCTT	0.418000													9	79					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440417	124440417	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:124440417C>T	ENST00000284287.3	+	1	525	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TTTACAACATCATTATGTCTC	0.483000													9	85					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74751292	74751292	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:74751292C>T	ENST00000404568.3	-	4	793	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	DQX1_ENST00000393951.2_Missense_Mutation_p.E192K|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	192	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGAAGTTTTTCCAGCCTGGCA	0.577000													37	142					0	0	1	0	0
COX6A1	1337	broad.mit.edu	37	12	120875933	120875933	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:120875933G>A	ENST00000229379.2	+	1	41	c.4G>A	c.(4-6)Gcg>Acg	p.A2T		NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	2					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCAAAAATGGCGGTAGTTGG	0.622000													6	22					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958882	50958882	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:50958882G>A	ENST00000357701.5	+	20	2370	c.2319G>A	c.(2317-2319)gtG>gtA	p.V773V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	773	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGTACCTGGTGGAGTACTGCC	0.602000													29	72					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160156121	160156121	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:160156121G>A	ENST00000368081.4	+	21	3496	c.3025G>A	c.(3025-3027)Gaa>Aaa	p.E1009K	ATP1A4_ENST00000470705.1_Missense_Mutation_p.E145K	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1009				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E1009K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTCTATGATGAAATCAGAAA	0.557000													80	198					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640159	7640159	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:7640159C>T	ENST00000359156.4	-	8	2048	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	CD163_ENST00000396620.3_Missense_Mutation_p.D649N|CD163_ENST00000541972.1_Missense_Mutation_p.D604N|CD163_ENST00000432237.2_Missense_Mutation_p.D616N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	616	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACATGGGCATCTTCTATGTCC	0.512000													35	79					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35738842	35738842	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:35738842C>T	ENST00000378094.4	-	12	2367	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.K624K|GBA2_ENST00000378103.3_Silent_p.K618K			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	618					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTTCAGGTCCTTCCAATCAG	0.488000													11	34					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070173	114070173	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:114070173G>A	ENST00000462705.1	-	11	1354	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ZBTB20_ENST00000471418.1_Missense_Mutation_p.S178F|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S178F|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S178F|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S178F|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S178F|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S251F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATTCTGCATGGAGCACGCGTA	0.647000													20	126					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59831748	59831748	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:59831748G>A	ENST00000278865.3	+	4	381	c.308G>A	c.(307-309)gGa>gAa	p.G103E	MS4A3_ENST00000534744.1_Missense_Mutation_p.G57E|MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000358152.2_Missense_Mutation_p.G57E	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	103						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAGTTCAGGAACCTTGTCT	0.363000													7	63					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196726627	196726627	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:196726627A>C	ENST00000312428.6	-	42	7650	c.7550T>G	c.(7549-7551)tTg>tGg	p.L2517W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2517	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L2517*(1)		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						AATTTCTTCCAAGAATCGTGA	0.368000													23	61					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64120092	64120092	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:64120092C>T	ENST00000371083.4	+	10	1976	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000371084.3_Silent_p.I518I|PGM1_ENST00000540265.1_Silent_p.I321I	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	518					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGTACATCGATAGCTATG	0.532000													15	87					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56636876	56636876	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:56636876C>T	ENST00000389934.3	-	31	4442	c.4325G>A	c.(4324-4326)aGg>aAg	p.R1442K	TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000240361.8_Missense_Mutation_p.R1448K|TEX14_ENST00000349033.5_Missense_Mutation_p.R1402K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1448						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTATCTTCCCTTTTTCTTTT	0.348000													36	183					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74425926	74425926	+	Splice_Site	SNP	C	C	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:74425926C>G	ENST00000334571.2	+	7	822	c.783_splice	c.e7+1	p.P261_splice	COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000238709.4_Splice_Site_p.P186_splice|COQ6_ENST00000394026.4_Splice_Site_p.P236_splice	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	261					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTCTGCTCCCGGTAAGAGGT	0.512000													24	91					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158621228	158621228	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:158621228C>T	ENST00000368148.3	-	24	3586	c.3406G>A	c.(3406-3408)Gat>Aat	p.D1136N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1136N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1136					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			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)					TTGTTGATATCCCTTAGCCGA	0.433000													41	128					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97770823	97770823	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:97770823C>T	ENST00000370192.3	-	18	2391	c.2291G>A	c.(2290-2292)gGa>gAa	p.G764E	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	764					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCAGACACTCCTCCATATGT	0.478000													13	96					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804659	54804659	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:54804659G>A	ENST00000306858.7	+	5	1006	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	297										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)					GTGAAGCATGGAAAAGCCCTC	0.433000													24	89					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071599	41071599	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:41071599G>A	ENST00000352632.3	+	29	6173	c.6087G>A	c.(6085-6087)agG>agA	p.R2029R	SPTBN4_ENST00000392025.1_Silent_p.R772R|SPTBN4_ENST00000338932.3_Silent_p.R2029R|SPTBN4_ENST00000598249.1_Silent_p.R2029R			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2029					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGAACCAGGAAGGAGGAGG	0.627000													3	11					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112167710	112167710	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:112167710C>T	ENST00000455480.2	+	11	1614	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	ACAD10_ENST00000313698.4_Silent_p.P448P|ACAD10_ENST00000549590.1_Silent_p.P448P|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Silent_p.P50P	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	448							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AATGGCTGCCCCTCCATCTTC	0.557000													11	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179528403	179528403	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:179528403C>T	ENST00000589042.1	-	171	36707	c.36483G>A	c.(36481-36483)aaG>aaA	p.K12161K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10310	Ig-like 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCGCTTTCTTTTCAGGAA	0.398000													31	266					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379671	379671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:379671C>T	ENST00000329962.6	+	15	2458	c.2458C>T	c.(2458-2460)Cag>Tag	p.Q820*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	820						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCTGGCGCCAGGACGTGAT	0.682000													15	18					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080812	54080812	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:54080812G>A	ENST00000253144.9	+	7	2331	c.998G>A	c.(997-999)gGg>gAg	p.G333E	ZNF331_ENST00000511593.2_Missense_Mutation_p.G333E|ZNF331_ENST00000511154.1_Missense_Mutation_p.G333E|ZNF331_ENST00000513999.1_Missense_Mutation_p.G333E|ZNF331_ENST00000449416.1_Missense_Mutation_p.G333E|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000411977.2_Missense_Mutation_p.G333E|ZNF331_ENST00000512387.1_Missense_Mutation_p.G333E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAGGAGTGTGGGAAGGCCTTT	0.507000			T	?	follicular thyroid adenoma								6	79					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222163	42222163	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:42222163G>A	ENST00000221992.6	+	6	1468	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	CEACAM5_ENST00000398599.4_Missense_Mutation_p.D451N|CEACAM5_ENST00000405816.1_Missense_Mutation_p.D452N|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	452	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTGGCTGATTGATGGGAACAT	0.517000													16	87					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39675039	39675039	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:39675039C>T	ENST00000254043.3	-	1	3626	c.41G>A	c.(40-42)gGg>gAg	p.G14E	KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.G14E	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	14	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TGAGCCACCCCCAAAGGTGGA	0.597000													36	143					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68138923	68138923	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:68138923G>A	ENST00000433211.1	-	12	1893	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	CTNNA3_ENST00000373744.4_Silent_p.F573F	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	573					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TACTTGTAAGGAAGTTAACAT	0.433000													22	78					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130281390	130281390	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:130281390G>A	ENST00000257359.6	-	6	2378	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	558	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATTCTGAGGCTCGGGGTCC	0.607000													26	79					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176021	159176021	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:159176021C>T	ENST00000537147.1	+	3	1635	c.792C>T	c.(790-792)ttC>ttT	p.F264F	DARC_ENST00000368122.2_Silent_p.F264F|DARC_ENST00000368121.2_Silent_p.F266F			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	264					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GACTGGATTTCCTGGTGAGGT	0.552000													51	155					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167721278	167721278	+	Missense_Mutation	SNP	C	C	T	rs147524426		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:167721278C>T	ENST00000230256.3	+	7	1163	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	UNC93A_ENST00000366829.2_Missense_Mutation_p.H288Y	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	330						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGCGGTGACCCACGTGTCCTG	0.632000													17	82					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824666	224824666	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:224824666A>T	ENST00000258383.3	+	2	664	c.595A>T	c.(595-597)Att>Ttt	p.I199F		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	199	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTTGCAGTTATTGGAGCCCT	0.473000													26	130					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155235078	155235078	+	Missense_Mutation	SNP	G	G	A	rs139516127	byFrequency	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:155235078G>A	ENST00000424344.3	+	7	1019	c.652G>A	c.(652-654)Gag>Aag	p.E218K	IL9R_ENST00000540897.1_Missense_Mutation_p.E264K|IL9R_ENST00000369423.2_Missense_Mutation_p.E274K|IL9R_ENST00000244174.5_Missense_Mutation_p.E239K			Q01113	IL9R_HUMAN	interleukin 9 receptor	239	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGTAGAGGAGGAGCGTTATAC	0.587000													20	69					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54966411	54966411	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:54966411C>T	ENST00000243052.3	+	7	1057	c.621C>T	c.(619-621)ttC>ttT	p.F207F	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Silent_p.F187F|PDE1B_ENST00000538346.1_Silent_p.F166F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	207	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGATGAGTTTCCTGGATGCCT	0.493000													83	511					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717632	72717632	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:72717632G>A	ENST00000428206.1	-	9	1150	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	NSUN5_ENST00000310326.8_Silent_p.F417F|NSUN5_ENST00000438747.2_Silent_p.F417F|NSUN5_ENST00000252594.6_Silent_p.F417F	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	417							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CAGCAACGAAGAAGCCACTGC	0.647000													13	102					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851905	97851905	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:97851905C>T	ENST00000354565.2	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGCATATGATCGCTATGTAGC	0.393000													61	189					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295957	20295957	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:20295957T>G	ENST00000568211.1	+	1	350	c.350T>G	c.(349-351)gTg>gGg	p.V117G	OR4N2_ENST00000315947.1_Missense_Mutation_p.V117G			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCCTTGTTGTGATGGCCTTT	0.507000													52	239					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598230	49598230	+	RNA	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:49598230G>A	ENST00000527477.1	+	0	834																											GCCCATAGTAGGGGTCATTGG	0.493000													16	48					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65004251	65004251	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:65004251C>T	ENST00000525437.1	+	0	1501							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ACCATCCTGCCACCCGTGAGC	0.667000													6	110					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170779	204170779	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:204170779C>T	ENST00000308302.3	-	3	463	c.278G>A	c.(277-279)gGa>gAa	p.G93E	GOLT1A_ENST00000475517.1_5'UTR	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	93					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GCTGAAGAATCCGTAGGTTTC	0.552000													49	94					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48333146	48333146	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:48333146C>T	ENST00000428869.2	-	5	432	c.174G>A	c.(172-174)cgG>cgA	p.R58R	MRO_ENST00000398439.3_Silent_p.R58R|MRO_ENST00000588444.1_Silent_p.R58R|MRO_ENST00000436348.2_Silent_p.R72R|MRO_ENST00000431965.2_Silent_p.R72R|MRO_ENST00000587291.1_Intron|MRO_ENST00000256425.2_Silent_p.R58R			Q9BYG7	MSTRO_HUMAN	maestro	58						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CACTGGGGTCCCGAGCTCTTT	0.507000													57	151					0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603606	10603606	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:10603606C>T	ENST00000544822.1	-	3	537	c.150G>A	c.(148-150)caG>caA	p.Q50Q	KLRC1_ENST00000359151.3_Silent_p.Q50Q|KLRC1_ENST00000408006.3_Silent_p.Q50Q|KLRC1_ENST00000536188.1_Silent_p.Q50Q|KLRC1_ENST00000347831.5_Silent_p.Q50Q	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	50					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CTTGAAAATCCTGAGAAGCTT	0.383000													44	101					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400980	11400980	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:11400980C>T	ENST00000002596.5	-	2	1824	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	217						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GAGGCGGTCGCCGTCCACAAT	0.547000													14	30					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294011	25294011	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:25294011C>T	ENST00000400358.4	+	19	2152	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	SGSM1_ENST00000400359.4_Missense_Mutation_p.P754S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	754	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCCCAAGATCCCCAATGGGAA	0.547000													5	33					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722126	141722126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:141722126C>T	ENST00000475668.2	+	7	823	c.769C>T	c.(769-771)Cga>Tga	p.R257*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.R257*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	257	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTCTCCACTCGACTGCCTAG	0.522000													32	106					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316085	125316085	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:125316085G>A	ENST00000373688.2	+	1	695	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCATGTAAACGAGCTGATGAT	0.517000													54	146					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													5	161					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285437	152285437	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152285437G>A	ENST00000368799.1	-	3	1960	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	642	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)			ATGGTTTCTGGAAGCAGACCC	0.567000									Ichthyosis				56	392					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349651	72349651	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:72349651C>T	ENST00000389916.4	+	17	2377	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	747					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCAGGACAGCCTGGGCAGCTG	0.632000													7	37					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564585	66564585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:66564585G>A	ENST00000360242.5	+	6	1300	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	CCDC102B_ENST00000584156.1_Missense_Mutation_p.D395N|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D395N|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D395N|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	395								p.D395H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGAGCTTTTGGATAAGAAAAA	0.408000													52	139					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70343519	70343519	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:70343519A>C	ENST00000333646.6	+	12	1892	c.1693A>C	c.(1693-1695)Att>Ctt	p.I565L	MED12_ENST00000374102.1_Missense_Mutation_p.I565L|MED12_ENST00000374080.3_Missense_Mutation_p.I565L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	565					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGTGCTCCCATTTTCCAGGA	0.522000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	23					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779908	36779908	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:36779908C>T	ENST00000416516.2	-	2	733	c.243G>A	c.(241-243)gaG>gaA	p.E81E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	81						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGAAAGCTCCTCGGGGATCT	0.612000													62	172					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64880975	64880975	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:64880975G>A	ENST00000169565.3	+	4	767	c.767G>A	c.(766-768)gGa>gAa	p.G256E	CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGTCCCCAGGACCCTGCTCC	0.622000													21	74					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	457102	457102	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:457102C>G	ENST00000512944.1	+	5	1334	c.1145C>G	c.(1144-1146)aCg>aGg	p.T382R	EXOC3_ENST00000315013.5_Missense_Mutation_p.T382R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	393					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGCTTGACACGTACATGTCC	0.582000													12	42					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326694	64326694	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:64326694G>A	ENST00000301891.4	+	2	855	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	SLC22A11_ENST00000377581.3_Missense_Mutation_p.G161S|SLC22A11_ENST00000377585.3_Missense_Mutation_p.G161S|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	161					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTTTATCTGGGGCCTCCTCTC	0.592000													22	78					0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101013162	101013162	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:101013162C>T	ENST00000284382.4	-	10	1128	c.705G>A	c.(703-705)atG>atA	p.M235I	CERS3_ENST00000394113.1_Missense_Mutation_p.M235I|CERS3_ENST00000538112.2_Missense_Mutation_p.M235I|CERS3_ENST00000560944.1_Intron	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	235	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CGTGTACAATCATCACGAGGG	0.438000													23	97					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361447	70361447	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:70361447C>T	ENST00000305107.6	-	1	179	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E45K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	45					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E45K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAAGTTCATCCAGGATT	0.448000													42	131					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927164	55927164	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:55927164G>A	ENST00000313447.1	-	1	629	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTATCAGAAAGGAGGAGATCA	0.378000													12	60					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698489	150698489	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:150698489C>T	ENST00000297494.3	+	11	1761	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	NOS3_ENST00000467517.1_Silent_p.F468F|NOS3_ENST00000461406.1_Silent_p.F262F|NOS3_ENST00000484524.1_Silent_p.F468F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	468	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCAACTATTTCCTGTCCCCGG	0.622000													37	77					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191471	152191471	+	Silent	SNP	C	C	T	rs75575379	byFrequency	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152191471C>T	ENST00000368801.2	-	3	2709	c.2634G>A	c.(2632-2634)tcG>tcA	p.S878S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	878					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)			GGCCGCGGCCCGAAGCGTGAT	0.617000													45	116					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95188886	95188886	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:95188886C>T	ENST00000027335.3	-	5	431	c.307G>A	c.(307-309)Gga>Aga	p.G103R	CDH17_ENST00000441892.2_Missense_Mutation_p.G103R|CDH17_ENST00000450165.2_Missense_Mutation_p.G103R	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	103	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTATAATTCCATTAGCGTCC	0.448000													11	75					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197069843	197069843	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:197069843G>A	ENST00000367409.4	-	18	8794	c.8538C>T	c.(8536-8538)ttC>ttT	p.F2846F	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2846					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCATCTGAAGGAAGAACTGAA	0.403000													15	82					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005121	42005121	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:42005121C>T	ENST00000395925.3	-	15	3634	c.3550G>A	c.(3550-3552)Gct>Act	p.A1184T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1184					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						TGCGGCACAGCGGGCCGCGGC	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				5	196					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451298	138451298	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:138451298A>T	ENST00000344876.4	-	1	2331	c.1945T>A	c.(1945-1947)Tac>Aac	p.Y649N	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.Y649N|PCDH18_ENST00000507846.1_Missense_Mutation_p.Y429N|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	649	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATTCTGTGTAGGGAACAGAA	0.433000													75	187					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128481230	128481230	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:128481230C>T	ENST00000325888.8	+	12	2081	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	FLNC_ENST00000346177.6_Missense_Mutation_p.S607F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	607					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGGCTTCTCCATCGAGGGG	0.642000													13	113					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821756	45821756	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:45821756C>T	ENST00000397928.1	+	16	2959	c.2514C>T	c.(2512-2514)tcC>tcT	p.S838S	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.S838S|TRPM2_ENST00000300481.9_Silent_p.S818S|TRPM2_ENST00000300482.5_Silent_p.S838S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	838						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCTCTTCTCCTTGGTGTGCG	0.632000													45	252					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070709	9070709	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:9070709G>A	ENST00000397910.4	-	3	16940	c.16737C>T	c.(16735-16737)atC>atT	p.I5579I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5581	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGGGAAGGATACCCTGTG	0.507000													43	167					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869039	174869039	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:174869039T>A	ENST00000393752.2	-	2	2056	c.1064A>T	c.(1063-1065)aAt>aTt	p.N355I		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	355					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TATGGCATTATTCGTCGCAGG	0.468000													36	147					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88902886	88902886	+	Missense_Mutation	SNP	G	G	A	rs138044863		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:88902886G>A	ENST00000237623.7	+	5	582	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	SPP1_ENST00000360804.4_Missense_Mutation_p.R132Q|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.R159Q	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	159					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TATGATGGCCGAGGTGATAGT	0.463000													11	95					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13734498	13734498	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:13734498C>T	ENST00000383314.2	+	4	693	c.453C>T	c.(451-453)gcC>gcT	p.A151A	RNMT_ENST00000592764.1_Silent_p.A151A|RNMT_ENST00000262173.3_Silent_p.A151A|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Silent_p.A151A|RNMT_ENST00000589866.1_Silent_p.A151A			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	151					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAGTGGCTGCCCATTACAATG	0.353000													9	105					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208522	106208522	+	RNA	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:106208522G>A	ENST00000390548.2	-	0	377																											GTTTTGGGGGGAAGAGGAAGA	0.612000													15	87					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267467	48267467	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:48267467C>T	ENST00000302329.3	+	1	860	c.812C>T	c.(811-813)aCc>aTc	p.T271I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAGTGATAACCGCGATCCTG	0.473000													10	62					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348322	140348322	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:140348322C>A	ENST00000289269.5	+	1	2503	c.1971C>A	c.(1969-1971)aaC>aaA	p.N657K	PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		657	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTTTCAACCTGACCGTGG	0.502000													16	65					4.7546e-09	4.84401e-09	1	1	0
SERINC1	57515	broad.mit.edu	37	6	122768298	122768298	+	Silent	SNP	T	T	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:122768298T>A	ENST00000368454.1	-	10	1292	c.963A>T	c.(961-963)ctA>ctT	p.L321L	SERINC1_ENST00000339697.3_Silent_p.L321L			Q9NRX5	SERC1_HUMAN	serine incorporator 1	321					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AAAAGAGAATTAGTCCTATAA	0.358000													63	110					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159517947	159517947	+	Silent	SNP	C	C	T	rs149166693	byFrequency	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:159517947C>T	ENST00000389757.3	+	13	2321	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.S732S	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	732					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGAACACATCCGATTACGACA	0.572000										HNSCC(62;0.18)			12	73					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35068320	35068320	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:35068320C>T	ENST00000382002.5	-	9	1279	c.853G>A	c.(853-855)Gag>Aag	p.E285K	PRLR_ENST00000513753.1_Missense_Mutation_p.E285K|PRLR_ENST00000310101.5_Missense_Mutation_p.E285K|PRLR_ENST00000511486.1_Missense_Mutation_p.E184K|PRLR_ENST00000542609.1_Missense_Mutation_p.E285K|PRLR_ENST00000231423.3_Missense_Mutation_p.E285K|PRLR_ENST00000342362.5_Missense_Mutation_p.E184K|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	285					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTACTTACCTCCAACAGATGA	0.433000													17	97					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226198	149226198	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:149226198C>T	ENST00000407073.1	+	9	1683	c.686C>T	c.(685-687)tCc>tTc	p.S229F	MBD5_ENST00000404807.1_Missense_Mutation_p.S229F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	229						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCATCAGGTTCCCAGATATAT	0.517000													39	102					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539610	56539610	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:56539610C>T	ENST00000390649.3	+	7	2011	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	671						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGGTCTCTCTGTTGGGTCA	0.577000													64	103					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480555	10480555	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:10480555C>G	ENST00000382483.3	-	2	380	c.157G>C	c.(157-159)Gtt>Ctt	p.V53L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	53					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGCTGGTGAACGGCCAGGCGG	0.652000													20	106					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32407672	32407672	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:32407672C>T	ENST00000357033.4	-	32	4670	c.4464G>A	c.(4462-4464)ttG>ttA	p.L1488L	DMD_ENST00000378677.2_Silent_p.L1484L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1488	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTTGTTTCCAATGCAGGCA	0.413000													34	130					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249917	52249917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:52249917C>A	ENST00000595042.1	-	3	472	c.331G>T	c.(331-333)Gga>Tga	p.G111*	FPR1_ENST00000304748.4_Nonsense_Mutation_p.G111*	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	111					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AAGACACTTCCGAACAAGTTG	0.537000													20	105					2.94398e-08	2.98404e-08	1	1	0
AKR1C4	1109	broad.mit.edu	37	10	5246449	5246449	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:5246449C>T	ENST00000380448.1	+	5	615	c.362C>T	c.(361-363)gCt>gTt	p.A121V	AKR1C4_ENST00000263126.1_Missense_Mutation_p.A121V			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	121					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TTCCCAATGGCTCTCAAGGTA	0.418000													16	116					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73811598	73811598	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:73811598G>A	ENST00000334126.7	-	15	2930	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	C2CD3_ENST00000313663.7_Missense_Mutation_p.P902S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	902						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGTGGAGGGGAAGTTTCACC	0.413000													12	105					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153543663	153543663	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:153543663G>A	ENST00000369915.3	+	7	1194	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E	TKTL1_ENST00000217905.7_Silent_p.E75E|TKTL1_ENST00000369912.2_Silent_p.E279E	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	335					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTCATCGAGTGCTTTATGG	0.502000													29	106					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133492517	133492517	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:133492517A>T	ENST00000388996.4	-	1	683	c.263T>A	c.(262-264)cTg>cAg	p.L88Q	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L88Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	88					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTCTTGGCCAGGAGCCCGAT	0.697000													8	37					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46411926	46411926	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:46411926C>T	ENST00000306156.3	+	15	2447	c.2120C>T	c.(2119-2121)cCg>cTg	p.P707L		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	707	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CGGGAAGAGCCGGTACTCACC	0.478000													19	94					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488684	44488684	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:44488684G>C	ENST00000425708.2	-	7	2820	c.2479C>G	c.(2479-2481)Cca>Gca	p.P827A	ZNF445_ENST00000396077.2_Missense_Mutation_p.P827A			P59923	ZN445_HUMAN	zinc finger protein 445	827					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCACATTTGGAGTCTTTTCA	0.418000													23	131					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10428197	10428197	+	Splice_Site	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:10428197C>T	ENST00000360273.2	-	7	1346		c.e7-1		ATP2B2_ENST00000343816.4_Splice_Site|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000352432.4_Splice_Site|ATP2B2_ENST00000383800.4_Intron	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTCTTCACACCTGTGTGATGA	0.502000													15	55					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491155	110491155	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:110491155A>G	ENST00000324068.1	-	11	1717	c.1550T>C	c.(1549-1551)gTt>gCt	p.V517A	CAPN6_ENST00000541758.1_Missense_Mutation_p.V262A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	517					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GATCTGAGTAACTACTTTCGG	0.433000													31	285					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18606210	18606210	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:18606210C>T	ENST00000379989.3	+	10	976	c.691C>T	c.(691-693)Cca>Tca	p.P231S	CDKL5_ENST00000379996.3_Missense_Mutation_p.P231S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	231	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGACCACTTCCATCTGAGCA	0.443000													48	405					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440237	135440237	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:135440237C>T	ENST00000443774.1	-	1	59	c.10G>A	c.(10-12)Gga>Aga	p.G4R	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTTCATTTCCCTTTCCCATG	0.522000													7	245					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460047	141460047	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:141460047G>A	ENST00000389484.3	-	38	7070	c.6099C>T	c.(6097-6099)gtC>gtT	p.V2033V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2033					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)		TGCTTACAAGGACAACCTTCT	0.423000										TSP Lung(27;0.18)			23	79					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481574	159481574	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:159481574C>T	ENST00000389757.3	+	7	913	c.788C>T	c.(787-789)tCc>tTc	p.S263F	PKP4_ENST00000389759.3_Missense_Mutation_p.S263F	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	263					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCATATTCCTCCACCACATTA	0.597000										HNSCC(62;0.18)			19	91					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75136697	75136697	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:75136697T>A	ENST00000356357.4	-	14	2256	c.1741A>T	c.(1741-1743)Acc>Tcc	p.T581S	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		AAAGAGCGGGTGAAGCGAGCT	0.527000													28	111					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56288349	56288349	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:56288349C>T	ENST00000393119.2	-	10	1024	c.950G>A	c.(949-951)gGa>gAa	p.G317E	MKS1_ENST00000313863.6_Missense_Mutation_p.G317E|MKS1_ENST00000337050.7_Missense_Mutation_p.G317E|MKS1_ENST00000546108.1_Missense_Mutation_p.G114E|MKS1_ENST00000537529.2_Missense_Mutation_p.G307E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	317	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCGACCTCTCCATTTACAAA	0.532000													15	107					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537374	55537374	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:55537374C>T	ENST00000220676.1	+	4	1080	c.932C>T	c.(931-933)cCa>cTa	p.P311L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	311					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)			CAGAATTTACCAATATATCCT	0.308000													26	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976777	8976777	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:8976777C>T	ENST00000397910.4	-	73	42492	c.42289G>A	c.(42289-42291)Gct>Act	p.A14097T	MUC16_ENST00000380951.5_Missense_Mutation_p.A738T|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14128				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAATGTAGCTGAGCCCTTG	0.572000													15	40					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76854445	76854445	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:76854445C>T	ENST00000491677.2	-	8	1515	c.973G>A	c.(973-975)Ggg>Agg	p.G325R	DUSP13_ENST00000605915.1_Missense_Mutation_p.G218R|DUSP13_ENST00000464872.1_Missense_Mutation_p.G145R|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.G246R|DUSP13_ENST00000478873.2_Missense_Mutation_p.G332R|DUSP13_ENST00000607131.1_Missense_Mutation_p.G289R|DUSP13_ENST00000472493.2_Missense_Mutation_p.G196R	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CAGAACCGCCCCGTCTCCCGC	0.642000													4	51					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825838	146825838	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:146825838G>A	ENST00000361727.3	+	7	1509	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	331	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGTAGAAAGAATTTCAAAG	0.398000										HNSCC(39;0.1)			41	132					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725652	106725652	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:106725652C>T	ENST00000390609.2	-	0	81																											GCCCAAACTCCATGGTGAGTT	0.458000													10	128					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285080	152285080	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152285080G>A	ENST00000368799.1	-	3	2317	c.2282C>T	c.(2281-2283)tCa>tTa	p.S761L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	761	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)			GCCTGACACTGACTGTGTGTC	0.572000									Ichthyosis				65	526					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30699772	30699772	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:30699772G>A	ENST00000256246.2	-	1	6836	c.6762C>T	c.(6760-6762)ttC>ttT	p.F2254F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2254										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGGCATAGGAAAAAGGAAA	0.303000													22	126					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160326	70160326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:70160326G>A	ENST00000335568.5	+	6	1391	c.1389G>A	c.(1387-1389)tgG>tgA	p.W463*	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	463					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			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)	CAGTCTTCTGGATTGAATTTG	0.408000													30	127					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78350033	78350033	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:78350033T>C	ENST00000255189.3	-	4	542	c.514A>G	c.(514-516)Atg>Gtg	p.M172V	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	172					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AAAGGGAACATCTCTTGAATT	0.328000													27	95					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38812842	38812842	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:38812842A>T	ENST00000476049.1	-	6	741	c.700T>A	c.(700-702)Tct>Act	p.S234T	KRT222_ENST00000394052.3_Missense_Mutation_p.S234T			Q8N1A0	KT222_HUMAN	keratin 222	234						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTAAAGAAAGAACCTTCCCAT	0.328000													22	73					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121491912	121491912	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:121491912A>G	ENST00000260197.7	+	44	6158	c.6029A>G	c.(6028-6030)aAc>aGc	p.N2010S	SORL1_ENST00000525532.1_Missense_Mutation_p.N954S|SORL1_ENST00000534286.1_Missense_Mutation_p.N920S|SORL1_ENST00000532694.1_Missense_Mutation_p.N856S|SORL1_ENST00000527934.1_Missense_Mutation_p.N625S	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2010	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAACTGGGGAACATGAGCAAA	0.488000													10	66					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217915	97217915	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:97217915C>T	ENST00000454558.2	+	7	2623	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	ARID5A_ENST00000357485.3_Silent_p.G550G			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	550					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGGCCGCTGGCCTGATGCACT	0.677000													41	221					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562646	22562646	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:22562646C>T	ENST00000419308.2	-	2	1418	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	FOXA2_ENST00000319993.4_Missense_Mutation_p.E412K|FOXA2_ENST00000377115.4_Missense_Mutation_p.E406K	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	406	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					ATCACCTGTTCGTAGGCCTTG	0.627000													9	69					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284198	152284198	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152284198G>A	ENST00000368799.1	-	3	3199	c.3164C>T	c.(3163-3165)tCa>tTa	p.S1055L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1055	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)			GACTGCAGATGAAGCTTGTCT	0.557000									Ichthyosis				113	698					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52323936	52323936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:52323936G>A	ENST00000356297.4	-	16	2036	c.1936C>T	c.(1936-1938)Caa>Taa	p.Q646*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q646*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	646					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)				TAATGAAATTGAGCCAGCAGG	0.483000													3	13					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284746	152284746	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152284746G>C	ENST00000368799.1	-	3	2651	c.2616C>G	c.(2614-2616)agC>agG	p.S872R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	872	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)			ATGTGGTGTGGCTGTGATGGG	0.567000									Ichthyosis				67	673					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748361	68748361	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:68748361G>A	ENST00000309106.3	-	1	94	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	32						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGGCCAGGGAGCTCAGCAC	0.562000													13	78					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13107084	13107084	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:13107084C>T	ENST00000319217.7	-	47	6340	c.6093G>A	c.(6091-6093)ctG>ctA	p.L2031L	MPDZ_ENST00000381022.2_Silent_p.L2002L|MPDZ_ENST00000541718.1_Silent_p.L2002L|MPDZ_ENST00000536827.1_Silent_p.L1969L|MPDZ_ENST00000538841.1_Silent_p.L890L|MPDZ_ENST00000381015.4_Silent_p.L2031L|MPDZ_ENST00000541093.1_Silent_p.L265L|MPDZ_ENST00000447879.1_Silent_p.L1998L|MPDZ_ENST00000546205.1_Silent_p.L2045L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2031	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCCCCTTTTCAGACGTCCGT	0.443000													24	154					0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226109591	226109591	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:226109591G>A	ENST00000343818.6	-	4	655	c.507C>T	c.(505-507)gcC>gcT	p.A169A	RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	169					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GCCCCGTGACGGCATCGATGA	0.647000													8	45					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57921996	57921996	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:57921996G>A	ENST00000574161.1	+	6	741	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	GCOM1_ENST00000380569.2_Missense_Mutation_p.E208K|GCOM1_ENST00000380568.3_Missense_Mutation_p.E208K|GCOM1_ENST00000587652.1_Missense_Mutation_p.E208K|GCOM1_ENST00000572390.1_Missense_Mutation_p.E208K|MYZAP_ENST00000267853.5_Missense_Mutation_p.E208K|GCOM1_ENST00000380561.2_Missense_Mutation_p.E177K|MYZAP_ENST00000380565.4_Missense_Mutation_p.E208K|GCOM1_ENST00000380560.2_Missense_Mutation_p.E139K|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.E177K	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		208					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAAGCTGAGGGAAAAGCAGAG	0.418000													18	56					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15917939	15917939	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:15917939C>T	ENST00000334920.2	-	1	997	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGAAGGTCTTCTTCATGGCGA	0.448000													11	98					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915379	48915379	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:48915379C>T	ENST00000294954.7	-	11	1578	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Silent_p.V492V|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Silent_p.V457V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	519					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAGTGGTTTCCACATCCATGG	0.398000													33	98					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399739	124399739	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:124399739G>A	ENST00000338354.3	+	52	6845	c.6739G>A	c.(6739-6741)Gaa>Aaa	p.E2247K	DMBT1_ENST00000359586.6_Missense_Mutation_p.E967K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E2237K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E2237K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1619K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E2247K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1619K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2247	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGGTCGAGGAAGTCCAGTA	0.463000													26	153					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389528	19389528	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:19389528C>T	ENST00000338883.4	-	23	3228	c.3229G>A	c.(3229-3231)Gac>Aac	p.D1077N	MAP3K15_ENST00000469203.2_Missense_Mutation_p.D909N|MAP3K15_ENST00000359173.3_Missense_Mutation_p.D512N|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1077							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAGTCCAGGTCCACCTTGAGC	0.537000													53	155					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19344610	19344610	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:19344610C>T	ENST00000252575.5	+	9	3075	c.3032C>T	c.(3031-3033)cCc>cTc	p.P1011L	NCAN_ENST00000538881.1_Missense_Mutation_p.P462L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1011	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACTCAGATCCCTGTGAGAAC	0.547000													9	98					0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647834	32647834	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:32647834C>T	ENST00000394620.1	+	3	674	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	70					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				CAAGACCAAACGGGGCAAGGA	0.507000													6	53					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122735384	122735384	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:122735384G>A	ENST00000227348.4	+	7	821	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CRTAM_ENST00000533709.1_Silent_p.K59K	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	258					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGATTGACAAGGAAGAGAAAG	0.383000													5	39					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779719	3779719	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:3779719G>A	ENST00000310132.6	-	9	1217	c.819C>T	c.(817-819)ttC>ttT	p.F273F	MATK_ENST00000395040.2_Silent_p.F232F|MATK_ENST00000395045.2_Silent_p.F274F|MATK_ENST00000585778.1_Silent_p.F273F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	273	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCGTCCAGGAAGGCCTGGG	0.687000													11	94					0	0	1	0	0
CXCL16	58191	broad.mit.edu	37	17	4638442	4638442	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:4638442G>A	ENST00000293778.6	-	4	1142	c.720C>T	c.(718-720)gcC>gcT	p.A240A	CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Silent_p.A240A	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	221					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						CATAGGAAAGGGCTGCGGTGA	0.592000													13	41					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94538034	94538034	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:94538034G>A	ENST00000375708.3	-	2	362	c.164C>T	c.(163-165)cCa>cTa	p.P55L	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	55	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTTCAGAGTTGGAATCGGGCC	0.537000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	46					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28712596	28712596	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:28712596G>A	ENST00000257197.3	-	14	2434	c.2173C>T	c.(2173-2175)Cca>Tca	p.P725S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P725S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	725					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATGTCTTCTGGAAAACATTTC	0.343000													28	81					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89172689	89172689	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:89172689G>A	ENST00000554922.1	-	11	1987	c.1739C>T	c.(1738-1740)tCt>tTt	p.S580F	EML5_ENST00000352093.5_Missense_Mutation_p.S580F|EML5_ENST00000380664.5_Missense_Mutation_p.S580F	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	580						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCACCAATAGAAATAACCCA	0.373000													4	53					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3784874	3784874	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:3784874G>A	ENST00000310132.6	-	3	479	c.81C>T	c.(79-81)ccC>ccT	p.P27P	MATK_ENST00000395040.2_5'UTR|MATK_ENST00000395045.2_Silent_p.P28P|MATK_ENST00000585778.1_Silent_p.P27P	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	27					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGAAGCGGGGGCTCACCT	0.667000													7	9					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36547315	36547315	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:36547315T>G	ENST00000273183.3	+	8	1209	c.909T>G	c.(907-909)gaT>gaG	p.D303E	STAC_ENST00000457375.2_Missense_Mutation_p.D242E	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	303	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGAATGAAGATTTGGAAATGA	0.343000													13	26					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100071848	100071848	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:100071848C>T	ENST00000375202.2	+	17	1706	c.354C>T	c.(352-354)ctC>ctT	p.L118L	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.L118L|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Silent_p.L257L|CCDC180_ENST00000395220.1_Silent_p.L257L|CCDC180_ENST00000529487.1_Silent_p.L118L					coiled-coil domain containing 180																		TGCACAGCCTCCCCAACGACT	0.547000													22	78					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100071849	100071849	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:100071849C>T	ENST00000375202.2	+	17	1707	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.P119S|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.P258S|CCDC180_ENST00000395220.1_Missense_Mutation_p.P258S|CCDC180_ENST00000529487.1_Missense_Mutation_p.P119S					coiled-coil domain containing 180																		GCACAGCCTCCCCAACGACTG	0.542000													22	77					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094738	72094738	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:72094738G>A	ENST00000355906.5	+	7	1228	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Silent_p.V331V|HP_ENST00000398131.2_Silent_p.V331V|HP_ENST00000570083.1_Silent_p.V331V|HP_ENST00000562526.1_3'UTR	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	390	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGTGTATGTGAAGGTGACTT	0.522000													21	153					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370203	20370203	+	RNA	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:20370203G>A	ENST00000593655.1	-	0	199																											TTGTGCTAGAGAAACTTGGTG	0.408000													6	78					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91846507	91846507	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:91846507G>A	ENST00000370425.3	-	7	933	c.835C>T	c.(835-837)Cca>Tca	p.P279S	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	279							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTGAAATATGGAAATTCTTTG	0.244000													8	110					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98643497	98643497	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:98643497C>T	ENST00000288985.7	+	2	731	c.426C>T	c.(424-426)acC>acT	p.T142T	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	142					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GAGAAGGAACCCGGTTTCTTT	0.378000													4	83					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91788710	91788710	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:91788710C>T	ENST00000370425.3	-	22	2572	c.2474G>A	c.(2473-2475)aGg>aAg	p.R825K	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.R57K|HFM1_ENST00000370424.3_Missense_Mutation_p.R504K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	825	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCATTTATCCTTAACTGTAT	0.289000													11	81					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735539	140735539	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:140735539G>A	ENST00000571252.1	+	1	772	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCTGTAGGCACTCGGCT	0.478000													12	35					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32407693	32407693	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:32407693C>T	ENST00000357033.4	-	32	4649	c.4443G>A	c.(4441-4443)gtG>gtA	p.V1481V	DMD_ENST00000378677.2_Silent_p.V1477V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1481	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTGCATCTTCACTTCATCTA	0.383000													37	126					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325947	31325947	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:31325947C>T	ENST00000269197.5	+	12	6135	c.6135C>T	c.(6133-6135)ctC>ctT	p.L2045L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2045	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ctccacctcTCCCTAATGCAG	0.582000													3	16					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32064886	32064886	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:32064886G>A	ENST00000375244.3	-	3	945	c.744C>T	c.(742-744)tcC>tcT	p.S248S	TNXB_ENST00000375247.2_Silent_p.S248S|TNXB_ENST00000479795.1_Silent_p.S248S			P22105	TENX_HUMAN	tenascin XB	248	EGF-like 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCGAGGGCAGGAGCGCTGGC	0.697000													3	21					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327716	52327716	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:52327716C>T	ENST00000339223.4	+	2	894	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	FPR3_ENST00000595991.1_Missense_Mutation_p.P239S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	239					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ATCCAGCCGTCCCTTACGTGT	0.453000													17	47					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78560648	78560648	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:78560648G>T	ENST00000370759.3	+	3	632	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	147	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						AATTAAAGATGGTGGTGTTAT	0.343000													9	63					0.00829132	0.00833326	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181689369	181689369	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:181689369G>A	ENST00000526775.1	+	14	1944	c.1779G>A	c.(1777-1779)gtG>gtA	p.V593V	CACNA1E_ENST00000360108.3_Silent_p.V593V|CACNA1E_ENST00000357570.5_Silent_p.V544V|CACNA1E_ENST00000358338.5_Silent_p.V544V|CACNA1E_ENST00000367573.2_Silent_p.V593V|CACNA1E_ENST00000367567.4_Silent_p.V200V|CACNA1E_ENST00000367570.1_Silent_p.V593V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	593					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAATTTGGTGGTCTCCTTGA	0.463000													4	56					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61471942	61471942	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:61471942C>T	ENST00000343916.3	+	32	1916	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	638	Triple-helical region 1 (COL1).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GACGGTGCTCCCGGCGAGCCT	0.682000													11	36					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13789006	13789006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:13789006C>T	ENST00000265104.4	-	51	8570	c.8466G>A	c.(8464-8466)tgG>tgA	p.W2822*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2822					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTCATGCTTCCACAGCTTTA	0.388000									Kartagener syndrome				10	69					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604711	48604711	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:48604711G>A	ENST00000342988.3	+	12	2071	c.1533G>A	c.(1531-1533)ccG>ccA	p.P511P	SMAD4_ENST00000588745.1_Silent_p.P415P|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Silent_p.P511P	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	511	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GCTGGGGACCGGATTACCCAA	0.478000													12	73					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19135848	19135848	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:19135848G>A	ENST00000601879.1	-	3	1606	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	SUGP2_ENST00000600377.1_Silent_p.L451L|SUGP2_ENST00000337018.6_Silent_p.L437L|SUGP2_ENST00000456085.2_Silent_p.L206L|SUGP2_ENST00000452918.2_Silent_p.L437L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	437					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACACTCTTCAGAAGCCGGTCT	0.433000													49	143					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743835	102743835	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:102743835G>A	ENST00000210633.3	+	14	2557	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E822K|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	822					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCGCATCCTGGAAAAAAGGAA	0.562000													25	96					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119003919	119003919	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:119003919C>T	ENST00000350777.2	+	9	1192	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	HINFP_ENST00000527410.1_Missense_Mutation_p.P377S	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	377	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						CTCAGGGCATCCCCGTTTTCG	0.478000													44	180					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99945162	99945162	+	Splice_Site	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:99945162C>T	ENST00000372981.1	-	8	904	c.717_splice	c.e8-1	p.E240_splice	SYTL4_ENST00000263033.5_Splice_Site_p.E240_splice|SYTL4_ENST00000454200.2_Splice_Site_p.E241_splice|SYTL4_ENST00000276141.6_Splice_Site_p.E240_splice|SYTL4_ENST00000372989.1_Splice_Site_p.E240_splice|SYTL4_ENST00000455616.1_Splice_Site_p.E240_splice			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	240					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCTGAGTTTCCTAGGAAGGA	0.413000													18	54					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138696	151138696	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:151138696G>A	ENST00000370325.1	-	2	288	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	GABRE_ENST00000370328.3_Silent_p.L79L|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	79					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAATTACTCAGGATAGTGTTC	0.527000													60	195					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33570283	33570283	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:33570283G>A	ENST00000262873.7	+	8	767	c.675G>A	c.(673-675)aaG>aaA	p.K225K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	183	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGGCCGGTAAGACGGTTAACA	0.602000													15	36					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183201836	183201836	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:183201836G>A	ENST00000264144.4	+	14	2129	c.2064G>A	c.(2062-2064)gaG>gaA	p.E688E	LAMC2_ENST00000493293.1_Silent_p.E688E	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	688	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGAGCCAAGAGAACAGCTACC	0.542000													17	102					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179321458	179321458	+	Missense_Mutation	SNP	C	C	T	rs141539662	byFrequency	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:179321458C>T	ENST00000356834.3	-	4	542	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.V169M	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	169	GRAM 1.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCGGGGCACGCGGCCCTTC	0.612000													4	62					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282164	152282164	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152282164G>A	ENST00000368799.1	-	3	5233	c.5198C>T	c.(5197-5199)tCa>tTa	p.S1733L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1733	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)			GGCTGACACTGACTGTGTGTC	0.582000									Ichthyosis				47	408					0	0	1	0	0
UBE2C	11065	broad.mit.edu	37	20	44444364	44444364	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:44444364C>T	ENST00000405520.1	+	3	1121	c.284C>T	c.(283-285)tCc>tTc	p.S95F	UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000372568.4_Missense_Mutation_p.S95F|UBE2C_ENST00000352551.5_Missense_Mutation_p.S105F|UBE2C_ENST00000356455.4_Missense_Mutation_p.S134F	NM_181802.1	NP_861518.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	134					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				ATTCTGCTCTCCATCCAGAGC	0.562000													11	108					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35867443	35867443	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:35867443G>A	ENST00000303115.3	+	3	386	c.257G>A	c.(256-258)aGg>aAg	p.R86K	IL7R_ENST00000343305.4_Missense_Mutation_p.R86K|IL7R_ENST00000511982.1_Missense_Mutation_p.R86K|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Missense_Mutation_p.R86K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	86					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTGAATTTCAGGAAACTACAA	0.398000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						28	65					0	0	1	0	0
CDHR4	389118	broad.mit.edu	37	3	49836213	49836213	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:49836213C>T	ENST00000487256.1	-	4	563	c.541G>A	c.(541-543)Gga>Aga	p.G181R	CDHR4_ENST00000412678.2_Intron|CDHR4_ENST00000343366.4_3'UTR			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TCTCTCCATCCCCCCACCCCC	0.577000													3	13					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201721535	201721535	+	Splice_Site	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:201721535C>T	ENST00000434813.2	-	9	1388		c.e9-1		CLK1_ENST00000321356.4_Splice_Site|CLK1_ENST00000409769.2_Splice_Site	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1						cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.?(2)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATCACGTTTCTGAAAATCAT	0.328000													14	112					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24880169	24880169	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:24880169G>T	ENST00000396432.2	-	24	4621	c.4135C>A	c.(4135-4137)Cca>Aca	p.P1379T	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1166T	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1378					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACATCTCCTGGGGAGACTCCT	0.443000													34	85					1.414e-09	1.44306e-09	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13727621	13727621	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:13727621C>T	ENST00000265104.4	-	70	12132	c.12028G>A	c.(12028-12030)Gcc>Acc	p.A4010T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4010					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A4010T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTACCTGGGCGATGGTTCTG	0.343000									Kartagener syndrome				14	55					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135579940	135579940	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:135579940G>A	ENST00000535601.1	+	2	519	c.97G>A	c.(97-99)Gat>Aat	p.D33N	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D33N	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	33					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CACCCAGACCGATGCCGGCGG	0.562000													49	176					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249325	20249325	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:20249325C>T	ENST00000315957.4	+	1	925	c.844C>T	c.(844-846)Cct>Tct	p.P282S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P282S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTAATATTCCCTTTACTTAA	0.383000													13	93					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285051	152285051	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152285051G>A	ENST00000368799.1	-	3	2346	c.2311C>T	c.(2311-2313)Cat>Tat	p.H771Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	771	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H771N(1)		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)			CTCTGCTGATGGTGACCAGCC	0.562000									Ichthyosis				77	484					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90321333	90321333	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:90321333G>A	ENST00000341735.3	+	2	962	c.962G>A	c.(961-963)gGa>gAa	p.G321E	MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Missense_Mutation_p.G23E	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	321					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CTGTCGCTGGGAGCTCCATCT	0.592000													25	66					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38921480	38921480	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:38921480G>A	ENST00000302328.3	-	19	3552	c.3354C>T	c.(3352-3354)ttC>ttT	p.F1118F	SCN11A_ENST00000444237.2_Silent_p.F1118F|SCN11A_ENST00000450244.1_Silent_p.F1118F|SCN11A_ENST00000456224.3_Silent_p.F1080F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1118					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGCACTGGTGAAATACTTTC	0.393000													4	31					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074831	21074831	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:21074831C>T	ENST00000377122.4	-	28	3286	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	NEBL_ENST00000377159.4_Missense_Mutation_p.D186N|NEBL_ENST00000417816.2_Missense_Mutation_p.D220N	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	964	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACTGTAATCGTACATGGCT	0.502000													7	75					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146785290	146785290	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:146785290C>T	ENST00000343218.5	-	8	1233	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.E232K	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	232					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCAGCTTCCAGCTGCAAG	0.517000													65	213					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57955623	57955623	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:57955623G>A	ENST00000325752.3	-	5	887	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_5'UTR|TUBD1_ENST00000592426.1_Missense_Mutation_p.H204Y|TUBD1_ENST00000394239.3_Missense_Mutation_p.H204Y|TUBD1_ENST00000340993.6_Missense_Mutation_p.H204Y|TUBD1_ENST00000376094.4_Missense_Mutation_p.H204Y	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	204					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TCATTCTCATGAAGAAGGAGG	0.408000													30	116					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57074624	57074624	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:57074624G>A	ENST00000436936.1	+	17	3158	c.2933G>A	c.(2932-2934)aGg>aAg	p.R978K	NLRC5_ENST00000262510.6_Missense_Mutation_p.R978K|NLRC5_ENST00000539144.1_Missense_Mutation_p.R978K|NLRC5_ENST00000308149.7_Missense_Mutation_p.R978K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	978					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCTCCCGAAGGATGAGGTAC	0.617000													10	93					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795629	96795629	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:96795629A>G	ENST00000342380.2	-	8	807	c.808T>C	c.(808-810)Tcg>Ccg	p.S270P		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	270					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GTGATGTCCGAGGCACTCAGG	0.652000													23	65					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282389	152282389	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152282389G>A	ENST00000368799.1	-	3	5008	c.4973C>T	c.(4972-4974)gCa>gTa	p.A1658V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1658	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)			GGAAGTCTCTGCATGACGAGT	0.562000									Ichthyosis				62	486					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24226095	24226095	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:24226095C>T	ENST00000303531.7	+	17	2132	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	661	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.S660S(1)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAGGATTTTCCTTTGTTAACT	0.428000													31	71					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:24254940C>T	ENST00000538205.1	+	7	908	c.361C>T	c.(361-363)Cga>Tga	p.R121*	ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R200*	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200			M -> T (in dbSNP:rs7007084).		integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433000													48	220					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2685552	2685552	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:2685552C>T	ENST00000274643.7	-	6	865	c.523G>A	c.(523-525)Gac>Aac	p.D175N	MYLK4_ENST00000268446.5_Missense_Mutation_p.D175N	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	175	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGGACAATGTCGTTCTTAGAC	0.577000													23	216					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235394494	235394494	+	Missense_Mutation	SNP	G	G	T	rs139597345		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:235394494G>T	ENST00000264183.3	-	10	1173	c.676C>A	c.(676-678)Cca>Aca	p.P226T	ARID4B_ENST00000349213.3_Missense_Mutation_p.P226T|ARID4B_ENST00000366603.2_Missense_Mutation_p.P226T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTTCTTGGAACTGAAGTA	0.299000													8	36					0.000157383	0.000158984	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77660220	77660220	+	Silent	SNP	G	G	A	rs111521571	byFrequency	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:77660220G>A	ENST00000296043.6	+	5	1847	c.894G>A	c.(892-894)ggG>ggA	p.G298G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	298					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTCGAAGGGATGAGGCAGG	0.552000													11	65					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6719178	6719178	+	Silent	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:6719178A>G	ENST00000338694.2	-	4	589	c.460T>C	c.(460-462)Ttg>Ctg	p.L154L	TEKT1_ENST00000535086.1_Silent_p.L8L	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	154					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCCTCCTCCAAGGTACGGGTC	0.537000													14	53					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105953678	105953678	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:105953678G>A	ENST00000357060.3	-	11	1503	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	WDR96_ENST00000369720.1_Missense_Mutation_p.S394F|WDR96_ENST00000278064.2_Missense_Mutation_p.S394F|WDR96_ENST00000428666.1_Missense_Mutation_p.S464F	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	463										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						GACCTGAGGGGATTCCTTATC	0.577000													12	66					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774977	24774977	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:24774977G>A	ENST00000221166.5	+	3	2391	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	NEFM_ENST00000437366.2_Missense_Mutation_p.E537K|NEFM_ENST00000518131.1_Missense_Mutation_p.E537K|NEFM_ENST00000433454.2_Missense_Mutation_p.E161K|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	537	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ggaagaagaggaggaagaaga	0.488000													8	13					0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195984740	195984740	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:195984740G>A	ENST00000292823.2	-	4	308	c.136C>T	c.(136-138)Cct>Tct	p.P46S	PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.P46S|PCYT1A_ENST00000419333.1_Missense_Mutation_p.P46S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	46						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TCAGAAAAAGGAGCTGGTTGC	0.368000													17	65					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418395	122418395	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:122418395A>G	ENST00000474629.2	+	6	1260	c.994A>G	c.(994-996)Aag>Gag	p.K332E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCCCTTATGGAAGTTCTTACA	0.453000													12	110					0	0	1	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522516	32522516	+	RNA	SNP	G	G	A	rs72118746		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:32522516G>A	ENST00000411500.1	-	0	690					NR_001298.1																						CCACTTGGCAGGTGTAAACCT	0.532000													4	120					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537665	54537665	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:54537665G>A	ENST00000474759.1	+	5	576	c.528G>A	c.(526-528)acG>acA	p.T176T	CACNA2D3_ENST00000415676.2_Silent_p.T176T|CACNA2D3_ENST00000288197.5_Silent_p.T176T|CACNA2D3_ENST00000490478.1_Silent_p.T82T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	176						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGTACCAACGAACATGTACA	0.443000													13	24					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71233030	71233030	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:71233030C>T	ENST00000359042.2	+	3	1603	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	C17orf80_ENST00000268942.8_Missense_Mutation_p.P470L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P470L|C17orf80_ENST00000255557.4_Missense_Mutation_p.P470L|C17orf80_ENST00000535032.2_Missense_Mutation_p.P470L|C17orf80_ENST00000426147.2_Missense_Mutation_p.P470L	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	470						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCTCTATCCTGGTTACCTT	0.557000													18	74					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48779557	48779557	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:48779557C>T	ENST00000316623.5	-	28	3870	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1139	EGF-like 17; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCGGGCATTCACAGCGGTAA	0.483000													33	100					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98643498	98643498	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:98643498C>T	ENST00000288985.7	+	2	732	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	143					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										AGAAGGAACCCGGTTTCTTTA	0.378000													4	83					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188343486	188343486	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:188343486T>C	ENST00000409676.1	-	8	937	c.673A>G	c.(673-675)Att>Gtt	p.I225V	TFPI_ENST00000233156.3_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.I225V|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000412276.1_RNA			P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	0	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACTTGGTAAATATGAGCCGCA	0.343000													11	46					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916015	72916015	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:72916015G>A	ENST00000319642.1	-	2	1098	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	306					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGGTAAACAGGGAGTCGTGG	0.672000													41	122					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769251	247769251	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:247769251C>T	ENST00000320002.2	+	1	396	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGCCTTGGATCGGTACATTGC	0.507000													62	195					0	0	1	0	0
TMSB4X	7114	broad.mit.edu	37	X	12994453	12994453	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:12994453G>A	ENST00000380636.1	+	1	1225	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TMSB4X_ENST00000380635.1_Missense_Mutation_p.E25K|TMSB4X_ENST00000451311.2_Missense_Mutation_p.E25K|TMSB4X_ENST00000380633.1_Missense_Mutation_p.E25K			P62328	TYB4_HUMAN	thymosin beta 4, X-linked	25					actin cytoskeleton organization|platelet activation|platelet degranulation|sequestering of actin monomers	cytoskeleton|extracellular region|platelet alpha granule lumen	actin binding			upper_aerodigestive_tract(1)	1						AGAGACGCAAGAGAAAAATCC	0.547000													32	91					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872688	36872688	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:36872688C>T	ENST00000301807.6	-	21	8501	c.6604G>A	c.(6604-6606)Gag>Aag	p.E2202K	TRANK1_ENST00000429976.2_Missense_Mutation_p.E2752K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E2202K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2752					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E2752*(1)|p.E2195*(1)|p.E2202*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGCCACCTCGGAAGCTGCC	0.557000													22	59					0	0	1	0	0
METAP1	23173	broad.mit.edu	37	4	99966337	99966337	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:99966337C>T	ENST00000296411.6	+	8	797	c.663C>T	c.(661-663)atC>atT	p.I221I	METAP1_ENST00000544031.1_Silent_p.I171I	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	221					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAGTGGATATCACTCTTTATC	0.368000													5	29					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921539	25921539	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:25921539C>T	ENST00000377850.3	-	4	866	c.342G>A	c.(340-342)ggG>ggA	p.G114G	SLC17A2_ENST00000360488.3_Silent_p.G114G|SLC17A2_ENST00000265425.3_Silent_p.G114G			O00624	NPT3_HUMAN	solute carrier family 17, member 2	114					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CTCCAAATATCCCTGCTAAAT	0.448000													25	81					0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38212016	38212016	+	Nonsense_Mutation	SNP	C	C	T	rs72552300		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:38212016C>T	ENST00000039007.4	+	1	219	c.67C>T	c.(67-69)Cga>Tga	p.R23*	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	23					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CTTCATGGTTCGAAATTTTCG	0.378000													16	81					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150881739	150881739	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:150881739G>A	ENST00000474524.1	+	8	1205	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	MED12L_ENST00000422248.2_Silent_p.K389K|MED12L_ENST00000309237.4_Silent_p.K389K|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	389					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAAAATAAGAGCGCAAACC	0.512000													8	58					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37704430	37704430	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:37704430G>A	ENST00000220659.6	-	3	598	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	BRF2_ENST00000520601.1_Silent_p.L160L	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	160					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TCCAGTCCCAGGAGCTTCACT	0.527000													176	381					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41647096	41647096	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:41647096G>A	ENST00000455915.2	-	12	2867	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	RANGAP1_ENST00000407260.4_Silent_p.P411P|RANGAP1_ENST00000356244.3_Silent_p.P466P|RANGAP1_ENST00000405486.1_Silent_p.P466P			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	466					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACCTTCTCGGGGTCAGACG	0.562000													19	38					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537653	55537653	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:55537653T>A	ENST00000220676.1	+	4	1359	c.1211T>A	c.(1210-1212)tTg>tAg	p.L404*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	404					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)			GAGGGCAGTTTGGCAGAGGAG	0.448000													17	78					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541213	35541213	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:35541213G>A	ENST00000287272.2	+	5	739	c.719G>A	c.(718-720)aGg>aAg	p.R240K	UNC5D_ENST00000416672.1_Missense_Mutation_p.R240K|UNC5D_ENST00000453357.2_Missense_Mutation_p.R235K|UNC5D_ENST00000420357.1_Missense_Mutation_p.R240K|UNC5D_ENST00000404895.2_Missense_Mutation_p.R240K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	274	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGGCTAAGAGGAGAAGCCTG	0.522000													14	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179589238	179589238	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:179589238C>T	ENST00000589042.1	-	72	21088	c.20864G>A	c.(20863-20865)gGa>gAa	p.G6955E	TTN_ENST00000591111.1_Missense_Mutation_p.G6638E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5711E|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6638	Ig-like 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCATCGGTCCTGCCTTCTC	0.473000													15	31					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137653	40137653	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:40137653G>A	ENST00000278198.2	-	2	2153	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R64W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R64W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R64W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	64	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGGTTTTTCCGAACACAAATC	0.532000													26	24					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269699	150269699	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:150269699A>C	ENST00000255945.2	+	3	716	c.541A>C	c.(541-543)Att>Ctt	p.I181L	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.I195L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	181							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGATGGACATTTTCGGTGA	0.502000													36	117					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924337	188924337	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:188924337G>A	ENST00000326866.4	+	4	784	c.376G>A	c.(376-378)Ggg>Agg	p.G126R	ZFP42_ENST00000509524.1_Missense_Mutation_p.G126R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	126					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CATGAAAAAAGGGGTAAAGAA	0.418000													21	150					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136533840	136533840	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:136533840C>T	ENST00000272638.9	+	10	1283	c.972C>T	c.(970-972)ttC>ttT	p.F324F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	324	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GAATTCAATTCCGTCTTCCTG	0.358000													16	54					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925599	54925599	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:54925599G>A	ENST00000293373.6	+	25	2850	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G874E	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	924					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCCAAGAGGGACTTCGGGAG	0.502000													13	41					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089185	76089185	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:76089185C>T	ENST00000335749.4	+	15	4702	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F	TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1381F|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1381F|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1378F|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1381F|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1378F	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1381	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCAAATGGCTCTAGCATCAAC	0.507000													18	46					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086657	56086657	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:56086657G>A	ENST00000312711.1	+	1	875	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R292Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TATAGTTTACGAAACAAAGAT	0.343000													11	23					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													4	48					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280442	152280442	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152280442G>C	ENST00000368799.1	-	3	6955	c.6920C>G	c.(6919-6921)gCa>gGa	p.A2307G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2307	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)			GGAATTCTCTGCATGATGAGT	0.562000									Ichthyosis				43	599					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169639070	169639070	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:169639070C>T	ENST00000428432.2	+	4	544	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SAMD7_ENST00000335556.3_Missense_Mutation_p.S52F	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	52										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAATTTGGATCCTCTGTTCTA	0.413000													32	115					0	0	1	0	0
VOPP1	81552	broad.mit.edu	37	7	55540669	55540669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:55540669G>A	ENST00000285279.5	-	5	598	c.398C>T	c.(397-399)tCc>tTc	p.S133F	VOPP1_ENST00000433959.1_Missense_Mutation_p.S124F|VOPP1_ENST00000545390.1_Missense_Mutation_p.S130F|VOPP1_ENST00000454227.1_Missense_Mutation_p.S70F|VOPP1_ENST00000428097.1_Missense_Mutation_p.S66F|VOPP1_ENST00000428648.1_Missense_Mutation_p.S66F|VOPP1_ENST00000418904.1_Missense_Mutation_p.S116F|VOPP1_ENST00000453256.1_Missense_Mutation_p.S66F|VOPP1_ENST00000427700.1_Missense_Mutation_p.S131F	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	133	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						CATTGCCATGGAATTCCCGAC	0.637000													6	34					0	0	1	0	0
SETD8	387893	broad.mit.edu	37	12	123889603	123889603	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:123889603A>G	ENST00000402868.3	+	7	1256	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	SETD8_ENST00000330479.4_Missense_Mutation_p.Y277C			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	318	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TATTTTCAGTATCTGAGCAAA	0.537000													4	27					0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8577550	8577550	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:8577550G>A	ENST00000393927.4	-	3	475	c.362C>T	c.(361-363)cCc>cTc	p.P121L	ZNF414_ENST00000255616.8_Missense_Mutation_p.P121L	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						ACGGACGCTGGGAAAACTGAG	0.612000													3	14					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6912103	6912103	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:6912103C>T	ENST00000419673.2	+	17	1880	c.1663C>T	c.(1663-1665)Cgt>Tgt	p.R555C	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R550C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R555C|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R714C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	537					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGATGTATATCGTATAAATCC	0.373000													6	31					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340282	121340282	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:121340282G>A	ENST00000338040.4	+	3	420	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	2					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGTCCAGGGGAAAGCCCGCA	0.507000													22	137					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527651	70527651	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:70527651G>A	ENST00000381269.2	-	3	2543	c.1790C>T	c.(1789-1791)aCc>aTc	p.T597I	SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000534137.1_Missense_Mutation_p.T597I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.T597I|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000216568.7_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	597	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AACCCTTATGGTTTTCCTGTA	0.453000													17	54					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64939446	64939446	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:64939446G>A	ENST00000377185.2	+	3	314	c.232G>A	c.(232-234)Gac>Aac	p.D78N		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	78	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCTCTCCAAAGACCCCTGCTT	0.527000													14	66					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5827939	5827939	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:5827939G>A	ENST00000380191.4	-	5	753	c.463C>T	c.(463-465)Cca>Tca	p.P155S	GDI2_ENST00000380181.3_Missense_Mutation_p.P110S|GDI2_ENST00000380132.4_Missense_Mutation_p.P159S	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAGTTCTTGGATCTTTTTCA	0.348000													5	119					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11790241	11790241	+	Missense_Mutation	SNP	G	G	A	rs138333222		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:11790241G>A	ENST00000262442.3	+	57	11139	c.11071G>A	c.(11071-11073)Gac>Aac	p.D3691N	DNAH9_ENST00000396001.2_Missense_Mutation_p.D3N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D3691N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3691					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATCATGAACGACCTCAGCAA	0.493000													19	96					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927016	166927016	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:166927016C>T	ENST00000271417.3	-	2	424	c.369G>A	c.(367-369)acG>acA	p.T123T	ILDR2_ENST00000529387.1_Silent_p.T123T|ILDR2_ENST00000525740.1_Silent_p.T123T|ILDR2_ENST00000526687.1_Silent_p.T123T|ILDR2_ENST00000528703.1_Silent_p.T123T|ILDR2_ENST00000469934.2_Silent_p.T123T|ILDR2_ENST00000529071.1_Silent_p.T123T	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	123	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CATGAACAATCGTGATCTCTC	0.448000													9	86					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160577065	160577065	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:160577065C>T	ENST00000324965.4	+	9	1444	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	SLC22A1_ENST00000366963.4_Silent_p.V519V|SLC22A1_ENST00000457470.2_Intron			O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	0						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCAAGGGGGTCGCTTTGCCAG	0.582000													45	128					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833623	38833623	+	Silent	SNP	G	G	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:38833623G>T	ENST00000449082.2	-	2	306	c.307C>A	c.(307-309)Cgg>Agg	p.R103R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	103					sensory perception	voltage-gated sodium channel complex		p.R103W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCACTAAACCGGGAAATGGTC	0.448000													55	202					3.07002e-29	3.13847e-29	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237206	140237206	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:140237206G>A	ENST00000307360.5	+	1	1573	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E525K|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTGGA	0.677000													28	260					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282359	152282359	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152282359G>A	ENST00000368799.1	-	3	5038	c.5003C>T	c.(5002-5004)tCa>tTa	p.S1668L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1668	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)			TTCCTGGGATGATGCAGCCTG	0.562000									Ichthyosis				73	539					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717196	47717196	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:47717196G>A	ENST00000360380.3	-	18	3839	c.3476C>T	c.(3475-3477)tCc>tTc	p.S1159F	STIL_ENST00000243182.6_Missense_Mutation_p.S1159F|STIL_ENST00000396221.2_Missense_Mutation_p.S1142F|STIL_ENST00000371877.3_Missense_Mutation_p.S1160F|STIL_ENST00000337817.5_Missense_Mutation_p.S1159F			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1159					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCAGGTATGGACCTAAGGTT	0.413000													17	139					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85437509	85437509	+	Silent	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:85437509T>G	ENST00000359152.5	-	1	1562	c.1563A>C	c.(1561-1563)ctA>ctC	p.L521L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_5'UTR|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_5'UTR|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	453					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTCTTTCTTTTAGGGACATAA	0.403000													10	95					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925214	53925214	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:53925214T>G	ENST00000371445.3	+	1	143	c.88T>G	c.(88-90)Tgc>Ggc	p.C30G		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	30					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CGCGGGCAAATGCCGCTGGAA	0.627000													10	30					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924338	188924338	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:188924338G>A	ENST00000326866.4	+	4	785	c.377G>A	c.(376-378)gGg>gAg	p.G126E	ZFP42_ENST00000509524.1_Missense_Mutation_p.G126E	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	126					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ATGAAAAAAGGGGTAAAGAAA	0.423000													22	147					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793586	17793586	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:17793586C>T	ENST00000379472.3	+	2	975	c.945C>T	c.(943-945)ttC>ttT	p.F315F	KCNC1_ENST00000265969.6_Silent_p.F315F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	315						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGTCCGCTTCGTGCGCATCT	0.642000													6	39					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582834	228582834	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:228582834G>A	ENST00000493030.2	-	5	4313	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	TRIM11_ENST00000284551.6_Missense_Mutation_p.P327S|TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA			Q96F44	TRI11_HUMAN	tripartite motif containing 11	327					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CAGGGGCCGGGGTCAAAGCGC	0.706000													6	36					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022478	18022478	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:18022478C>T	ENST00000205890.5	+	2	702	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	122	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGCCTGCGGCCGCGCGCCCG	0.642000													13	46					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086047	24086047	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:24086047G>A	ENST00000341976.3	-	2	1741	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	427						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCCCCCGGAAGGACTTGCCGC	0.547000													60	161					0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175824933	175824933	+	Missense_Mutation	SNP	A	A	G	rs11540987		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:175824933A>G	ENST00000310418.4	-	3	555	c.350T>C	c.(349-351)cTg>cCg	p.L117P	CLTB_ENST00000345807.2_Missense_Mutation_p.L117P	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	117	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GCCCTCACCCAGCTCTTGCAG	0.642000													25	274					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73958131	73958131	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:73958131T>A	ENST00000328257.8	+	11	1295	c.972T>A	c.(970-972)gaT>gaA	p.D324E	PPME1_ENST00000543525.1_Missense_Mutation_p.D137E|PPME1_ENST00000398427.4_Missense_Mutation_p.D338E|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	324					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TAGGTGTTGATAGATTGGATA	0.353000													3	20					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97467532	97467532	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:97467532G>A	ENST00000389672.5	+	18	3418	c.3380G>A	c.(3379-3381)gGa>gAa	p.G1127E		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1032						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGGAGAAGGGATTTCATGTA	0.398000													3	21					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921086	1921086	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:1921086C>T	ENST00000399161.2	-	11	2256	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	MYT1L_ENST00000428368.2_Silent_p.E501E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	503					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACACTTGCTCTCTTTCTTTT	0.483000													38	132					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3786400	3786400	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:3786400C>T	ENST00000381771.2	-	6	731	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	CAMKK1_ENST00000348335.2_Missense_Mutation_p.R195Q|CAMKK1_ENST00000158166.5_Missense_Mutation_p.R195Q|CAMKK1_ENST00000381769.2_Missense_Mutation_p.R222Q			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	195	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTGGTACACCCGCTCCAGGGG	0.617000													26	91					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153248064	153248064	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:153248064A>C	ENST00000369982.4	+	2	1298	c.551A>C	c.(550-552)cAc>cCc	p.H184P		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	184						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCACAGGCACTATGGCAGC	0.642000													13	57					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159635981	159635981	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:159635981G>A	ENST00000297267.9	+	5	665	c.465G>A	c.(463-465)aaG>aaA	p.K155K	FNDC1_ENST00000340366.6_Silent_p.K155K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	155						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTTAAGAAAAGGAAGTGCCCA	0.532000													24	25					0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2291361	2291361	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:2291361C>G	ENST00000585527.1	-	1	662	c.415G>C	c.(415-417)Gta>Cta	p.V139L	LINGO3_ENST00000404279.1_Missense_Mutation_p.V139L			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	139						integral to membrane				lung(1)|urinary_tract(1)	2						AGCAGGATTACCAGCTTGTTC	0.647000													5	45					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115890990	115890990	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:115890990C>T	ENST00000369287.3	-	12	2283	c.2017G>A	c.(2017-2019)Gta>Ata	p.V673I	C10orf118_ENST00000543782.1_Missense_Mutation_p.V271I|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	673										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTCTTCTACCTGGGTACTC	0.393000													21	252					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	12684	12684	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrM:12684G>A	ENST00000361567.2	+	1	348	c.348G>A	c.(346-348)caG>caA	p.Q116Q				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	116					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AACATTAATCAGTTCTTCAAA	0.368000													5	130					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74308046	74308046	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:74308046C>T	ENST00000395792.2	+	5	616	c.516C>T	c.(514-516)ttC>ttT	p.F172F	AFP_ENST00000226359.2_Silent_p.F172F	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	172	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCATCCCTTCCTGTATGCAC	0.373000									Alpha-Fetoprotein, Hereditary Persistence of				4	44					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221315	55221315	+	RNA	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:55221315G>A	ENST00000413439.1	+	0	1118																											AGCCCTCCTAGTCCCGACTCT	0.622000													15	21					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932502	79932502	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:79932502C>T	ENST00000373275.4	-	41	5231	c.5015G>A	c.(5014-5016)gGa>gAa	p.G1672E		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1672	Gly-rich.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTGCCTCTTCCTCCTGTGCC	0.498000													61	259					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395623	154395623	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:154395623G>A	ENST00000435029.4	+	1	2364	c.2204G>A	c.(2203-2205)gGa>gAa	p.G735E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	735	Interaction with PRC1 (By similarity).			HGKEGI -> RGMEGT (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGAGCCATGGAAAGGAAGGT	0.488000													15	48					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871574	65871574	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:65871574A>G	ENST00000395325.3	+	16	2235	c.2078A>G	c.(2077-2079)aAa>aGa	p.K693R	DNAJC6_ENST00000263441.7_Missense_Mutation_p.K680R|DNAJC6_ENST00000371069.4_Missense_Mutation_p.K750R	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	693	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTTGCCAGCAAACCCACCACA	0.507000													17	70					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023696	62023696	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:62023696C>T	ENST00000280772.1	-	6	787	c.596G>A	c.(595-597)gGa>gAa	p.G199E	ANK3_ENST00000503366.1_Missense_Mutation_p.G182E|ANK3_ENST00000373827.2_Missense_Mutation_p.G193E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	199					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACGCACTTTTCCTTTGGTGTC	0.517000													20	44					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640555	104640555	+	Missense_Mutation	SNP	C	C	T	rs121918124		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:104640555C>T	ENST00000304883.2	-	1	418	c.278G>A	c.(277-279)gGt>gAt	p.G93D		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	93						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CACCACCACACCATACGCCAG	0.612000													26	82					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117907528	117907528	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:117907528C>T	ENST00000425217.1	-	19	2752	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K	KSR2_ENST00000339824.5_Missense_Mutation_p.E929K|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	929	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGTTTCTCCAGCATGTCC	0.483000													8	38					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071966	17071966	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:17071966C>T	ENST00000359963.3	-	1	1734	c.1475G>A	c.(1474-1476)gGg>gAg	p.G492E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	492					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCCACACCCCTTCCTGGGC	0.517000													25	166					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280639	152280639	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152280639G>A	ENST00000368799.1	-	3	6758	c.6723C>T	c.(6721-6723)tcC>tcT	p.S2241S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2241	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)			GGCTAACACTGGATCCCCGGG	0.577000									Ichthyosis				42	353					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124487380	124487380	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:124487380G>A	ENST00000284288.2	+	3	602	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	179					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GAATGAGCTGGAGAAGTGAGT	0.438000													14	72					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180721	142180721	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:142180721C>T	ENST00000390368.2	-	0	203																											ATTCATGGTTCATATCCTGGG	0.517000													41	565					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266996	16266996	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:16266996G>A	ENST00000343518.6	-	9	1504	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	485										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCCTTGGTGGAATTAATCCA	0.438000													14	382					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104987641	104987641	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:104987641C>T	ENST00000507740.1	+	13	2446	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	RIMS2_ENST00000406091.3_Missense_Mutation_p.S945L|RIMS2_ENST00000436393.2_Missense_Mutation_p.S723L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S784L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1007	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGTAATGTCATCAAACCAC	0.388000										HNSCC(12;0.0054)			12	67					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55270089	55270089	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:55270089G>A	ENST00000256854.5	-	12	1793	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	NARS_ENST00000423481.2_Silent_p.S197S	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	446					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GCATGTAGAAGGACTTGATCT	0.433000													24	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8971809	8971809	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:8971809C>T	ENST00000397910.4	-	78	42986	c.42783G>A	c.(42781-42783)ttG>ttA	p.L14261L	MUC16_ENST00000380951.5_Silent_p.L902L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14333	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACAGTGACCAACACGGAGT	0.502000													8	20					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20807112	20807112	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:20807112G>A	ENST00000359062.3	+	15	3197	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1053	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAATGAAGAGGAAACCTGTGA	0.408000													16	64					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119198909	119198909	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:119198909C>T	ENST00000295588.4	+	5	552	c.468C>T	c.(466-468)taC>taT	p.Y156Y		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	156						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CATCAGAGTACCATGATATCA	0.473000													13	48					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822029	24822029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:24822029C>T	ENST00000376451.2	+	11	2586	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.Q776*|KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.Q776*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.Q776*|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Q1093*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.Q1058*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.Q1057*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.Q1013*			Q5T5P2	SKT_HUMAN	KIAA1217	1093					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACCAAGCCCACAGACCAGAGC	0.522000													7	67					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805957	27805957	+	Missense_Mutation	SNP	G	G	A	rs139301244	byFrequency	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:27805957G>A	ENST00000330180.2	-	1	160	c.161C>T	c.(160-162)gCg>gTg	p.A54V		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	54					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CTCCAACACCGCCGCCAGGTA	0.672000													35	114					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28599254	28599254	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:28599254C>T	ENST00000253063.3	+	5	1021	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	234					cell cycle arrest	cytoplasm|nucleus		p.P234S(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTACACCCCCTAGTGAACA	0.637000													22	47					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	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				18	84					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245308	41245308	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:41245308G>A	ENST00000309486.4	-	9	2379	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	BRCA1_ENST00000471181.2_Missense_Mutation_p.P747L|BRCA1_ENST00000346315.3_Missense_Mutation_p.P747L|BRCA1_ENST00000493795.1_Missense_Mutation_p.P700L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P747L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.P747L|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	747					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAGATCTTTGGGGTCTTCAGC	0.373000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			34	121					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19808759	19808759	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:19808759G>A	ENST00000329517.6	-	3	356	c.120C>T	c.(118-120)ctC>ctT	p.L40L	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Silent_p.L40L|GNB1L_ENST00000405009.1_Silent_p.L40L	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	40					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					ACCCTGAGAAGAGGAGCGGGC	0.667000													30	92					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147481356	147481356	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:147481356G>A	ENST00000359874.3	+	15	1388	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	SPINK5_ENST00000398454.1_Missense_Mutation_p.E439K|SPINK5_ENST00000256084.7_Missense_Mutation_p.E439K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	439	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTGTAGTGAATACCGCAA	0.428000													30	76					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12627888	12627888	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:12627888C>T	ENST00000380682.1	+	3	713	c.207C>T	c.(205-207)tgC>tgT	p.C69C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	69					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TAGAGAGCTGCCAAATCATCC	0.522000													34	118					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516190	102516190	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:102516190C>T	ENST00000360184.4	+	76	13819	c.13655C>T	c.(13654-13656)aCc>aTc	p.T4552I	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4552					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGGGCGCCACCCTTGACGCT	0.597000													15	63					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230231729	230231729	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:230231729C>T	ENST00000341772.4	-	12	2096	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	654					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGATGATCAGCATAAGGA	0.557000													8	28					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350032	100350032	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:100350032C>T	ENST00000542585.1	+	0	2452				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCTCCCCAGAAA	0.522000													36	137					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841563	130841563	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:130841563G>A	ENST00000245255.3	+	13	1777	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	502					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348000													10	76					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113075201	113075201	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:113075201G>A	ENST00000316851.7	+	2	291	c.291G>A	c.(289-291)gaG>gaA	p.E97E	NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Silent_p.E106E|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	107	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGAGTCAGAGGCCACCGTCA	0.522000													12	42					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47525150	47525150	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:47525150G>A	ENST00000273859.3	+	4	876	c.607G>A	c.(607-609)Gga>Aga	p.G203R	ATP10D_ENST00000504445.1_Missense_Mutation_p.G203R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	203					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGATCCAGATGGAATCTGTCA	0.473000													11	57					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744329	54744329	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:54744329C>T	ENST00000419410.2	-	6	1080	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.G360E|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.G360E|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGGCTGCCCCTTCTTTGGT	0.582000													19	208					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323323	29323323	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:29323323G>A	ENST00000377154.1	-	4	949	c.650C>T	c.(649-651)tCc>tTc	p.S217F	OR5V1_ENST00000543825.1_Missense_Mutation_p.S217F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAAATGTAGGAAAGTACGAT	0.468000													30	100					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:94759491C>T	ENST00000450979.2	+	1	1070	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	257	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(1)|endometrium(7)|kidney(1)|lung(3)	12						AATGGGATTCCCTTCAATTGC	0.547000													13	51					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226244	183226244	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:183226244G>A	ENST00000341319.3	-	3	547	c.512C>T	c.(511-513)cCa>cTa	p.P171L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	171										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCAGTTTTCTGGGTTCAAGGC	0.483000													13	91					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780811	94780811	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:94780811G>A	ENST00000341584.3	-	2	321	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	59					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TTCTTTTTGGGACTCAAGGCC	0.542000													22	102					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951663	88951663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:88951663C>T	ENST00000268679.4	-	7	1304	c.908G>A	c.(907-909)gGg>gAg	p.G303E	CBFA2T3_ENST00000360302.2_Missense_Mutation_p.G217E|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.G227E|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.G278E|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.G217E	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	303	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCGGTCTGACCCGTTCTCTTT	0.672000			T	RUNX1	AML								3	21					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618677	52618677	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:52618677A>C	ENST00000600228.1	-	4	2001	c.1740T>G	c.(1738-1740)aaT>aaG	p.N580K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGCCGCATTCATTGCATTTGT	0.423000													5	78					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169845457	169845457	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:169845457G>A	ENST00000335742.7	+	19	3942	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.G1020E|PALLD_ENST00000507735.1_Missense_Mutation_p.G533E|PALLD_ENST00000505667.1_Missense_Mutation_p.G1037E|PALLD_ENST00000512127.1_Missense_Mutation_p.G638E			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1244	Interaction with ACTN.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAAAACACAGGAGTTGCTGAT	0.428000									Pancreatic Cancer, Familial Clustering of				13	63					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198820	118198820	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:118198820G>A	ENST00000425217.1	-	4	949	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S	KSR2_ENST00000339824.5_Missense_Mutation_p.P328S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	328					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCACTTGGGCGTGTGGGCC	0.657000													19	71					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601683	41601683	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:41601683G>A	ENST00000330436.3	+	9	1322	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	441					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TACTGTTTTGGAGAAGGCCTG	0.562000													25	123					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542714	28542714	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:28542714C>T	ENST00000452236.2	-	3	2385	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	590					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGGCTTTTTTCAGCCACCTTA	0.363000													14	67					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551694	1551694	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:1551694C>T	ENST00000381605.4	-	4	905	c.841G>A	c.(841-843)Gga>Aga	p.G281R	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	281	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCTGTAGTCCCCGGGGGTAG	0.537000													24	47					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918182	39918182	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:39918182G>A	ENST00000337304.2	+	2	1513	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	ATF4_ENST00000404241.2_Missense_Mutation_p.E211K|ATF4_ENST00000396680.1_Missense_Mutation_p.E211K	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	211					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CATAAAGGAGGAAGACACCCC	0.502000													10	45					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881494	26881494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:26881494C>T	ENST00000231021.4	-	12	2293	c.2121G>A	c.(2119-2121)tgG>tgA	p.W707*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	707					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAATATTTTCCCACAGAGGCA	0.418000													33	138					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902617	236902617	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:236902617C>T	ENST00000366578.4	+	10	1058	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R298C	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	298					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAATGGATTCGTCGCACGAT	0.512000													49	188					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119338472	119338472	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:119338472C>T	ENST00000273371.4	+	8	1057	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	PLA1A_ENST00000488919.1_Silent_p.L156L|PLA1A_ENST00000495992.1_Silent_p.L313L|PLA1A_ENST00000494440.1_Silent_p.L313L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	329					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTCTACCTCCTGACTACTTC	0.542000													19	44					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583970	24583970	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:24583970G>A	ENST00000358321.3	+	13	2469	c.2208G>A	c.(2206-2208)aaG>aaA	p.K736K		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	736	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACGGACAAAAGGAGGGCAACA	0.617000													20	146					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542220	55542220	+	Silent	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:55542220A>G	ENST00000220676.1	+	4	5926	c.5778A>G	c.(5776-5778)caA>caG	p.Q1926Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1926					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)			TTATTATCCAACCCATGAATG	0.358000													21	131					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217681	155217681	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:155217681C>T	ENST00000361361.2	-	12	2408	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	FAM189B_ENST00000350210.2_Silent_p.L537L|FAM189B_ENST00000368368.3_Silent_p.L615L	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	633						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGCTAGAGCTCAGATCTCCGC	0.667000													4	20					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158282219	158282219	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:158282219G>T	ENST00000264426.9	+	14	2628	c.2349G>T	c.(2347-2349)ttG>ttT	p.L783F	GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000449365.1_Intron|GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000393815.2_Intron	NM_001083619.1	NP_001077088.1	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	783					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGGACAAATTGAAAAACAAAT	0.443000													24	50					4.7796e-09	4.86117e-09	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	96197081	96197081	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:96197081G>A	ENST00000324765.8	+	13	1737	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	DIAPH2_ENST00000373054.4_Missense_Mutation_p.D460N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.D464N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.D464N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.D464N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	464	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CAGTGGTATGGATCCAGACTT	0.368000													45	129					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814479	242814479	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:242814479G>A	ENST00000343216.3	+	2	800	c.772G>A	c.(772-774)Ggc>Agc	p.G258S		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	258						integral to membrane											CATGCCTGGGGGCAAAGGCTT	0.657000													28	59					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291322	103291322	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:103291322G>A	ENST00000520539.1	-	43	6722	c.6116C>T	c.(6115-6117)cCa>cTa	p.P2039L	UBR5_ENST00000521922.1_Missense_Mutation_p.P2033L|UBR5_ENST00000220959.4_Missense_Mutation_p.P2039L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2039	Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CACTTCAAATGGATTTGGGGG	0.453000													39	148					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479963	130479963	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:130479963C>T	ENST00000373289.3	+	4	418	c.338C>T	c.(337-339)tCg>tTg	p.S113L	PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	113							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GACTTCTCCTCGGCCGCCCAG	0.612000													31	88					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830960	61830960	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:61830960C>T	ENST00000280772.1	-	37	9870	c.9679G>A	c.(9679-9681)Gca>Aca	p.A3227T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3227					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGCTCAACTGCTGTTTCCTCC	0.493000													21	160					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939783	76939783	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:76939783G>A	ENST00000373344.5	-	9	1179	c.965C>T	c.(964-966)tCa>tTa	p.S322L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S284L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	322					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTACAATTTGAACTAGTCTT	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						26	104					0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83561581	83561581	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:83561581G>A	ENST00000304231.8	-	2	210	c.18C>T	c.(16-18)atC>atT	p.I6I	HOMER2_ENST00000399166.2_Silent_p.I6I|HOMER2_ENST00000450735.2_Silent_p.I6I|HOMER2_ENST00000426485.1_Silent_p.I6I	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	6	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						GGGTGGTGAAGATGGGCTGTT	0.483000													22	80					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143727	55143727	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:55143727C>T	ENST00000491143.2	+	2	1319	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	429					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGAAGAAGTCCCGCCTGGTGT	0.517000													14	67					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65003974	65003974	+	RNA	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:65003974C>T	ENST00000525437.1	+	0	1391							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCGAGCTGTACCCCACGGAGA	0.637000													5	22					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161432	123161432	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:123161432G>A	ENST00000264501.4	+	29	4968	c.4595G>A	c.(4594-4596)cGt>cAt	p.R1532H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1532H|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1532H			Q2LD37	K1109_HUMAN	KIAA1109	1532					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATTGCATCGTCCCCTTGAT	0.383000													13	105					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227280	38227280	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:38227280C>T	ENST00000373048.4	-	3	646	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	EPHA10_ENST00000319637.6_Missense_Mutation_p.R216Q|EPHA10_ENST00000427468.2_Missense_Mutation_p.R216Q	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	216						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCAGGCCCCGCACGGTGGC	0.697000													17	36					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098820	133098820	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:133098820G>A	ENST00000515826.1	+	3	388	c.265G>A	c.(265-267)Gag>Aag	p.E89K	TMEM108_ENST00000393130.3_Missense_Mutation_p.E89K|TMEM108_ENST00000321871.6_Missense_Mutation_p.E89K|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	89	Pro-rich.					integral to membrane		p.E89Q(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCCCGTGCAGAGGGGCACCC	0.627000													28	140					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580717	99580717	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:99580717C>T	ENST00000481138.1	-	6	2249	c.1588G>A	c.(1588-1590)Ggg>Agg	p.G530R	ZNF782_ENST00000535338.1_Missense_Mutation_p.G398R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G530W(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GGCTTCTCCCCTGTGTGTGTT	0.428000													29	231					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428549	128428549	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:128428549C>T	ENST00000465342.2	+	2	1595	c.438C>T	c.(436-438)ctC>ctT	p.L146L	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.L146L|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	146	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AGAAAGAACTCGAGCAATTTG	0.547000													17	38					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658911	3658911	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:3658911G>A	ENST00000294008.3	-	2	695	c.55C>T	c.(55-57)Cat>Tat	p.H19Y		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	19	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCAGACAGATGAGAAAGTGAA	0.463000								Direct reversal of damage					5	94					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496377	24496377	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:24496377G>A	ENST00000284224.8	-	6	1455	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.P393L|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	393					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTTAAAGTTGGGAAATTTCAG	0.373000													32	152					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200587697	200587697	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:200587697G>A	ENST00000367350.4	-	2	593	c.155C>T	c.(154-156)cCa>cTa	p.P52L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	52	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTCAATAATGGATCATCATT	0.408000													17	82					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832247	61832247	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:61832247C>T	ENST00000280772.1	-	37	8583	c.8392G>A	c.(8392-8394)Gaa>Aaa	p.E2798K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2798					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACAACAATTTCGTTGCTTTGG	0.378000													17	69					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066305	9066305	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:9066305C>T	ENST00000397910.4	-	3	21344	c.21141G>A	c.(21139-21141)ttG>ttA	p.L7047L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7049	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGATGTGTCCAAGGTAAGGG	0.507000													30	136					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152936792	152936792	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:152936792G>A	ENST00000393831.2	-	7	1065	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	PNCK_ENST00000447676.2_Missense_Mutation_p.P271S|PNCK_ENST00000370142.1_Missense_Mutation_p.P211S|PNCK_ENST00000370150.1_Missense_Mutation_p.P188S|PNCK_ENST00000340888.3_Missense_Mutation_p.P188S|PNCK_ENST00000370145.4_Missense_Mutation_p.P205S	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	188	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCGTAGGGTTTCTGCTCC	0.642000													27	84					0	0	1	0	0
SPINK1	6690	broad.mit.edu	37	5	147207631	147207631	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:147207631C>T	ENST00000510027.2	-	3	205	c.148G>A	c.(148-150)Gat>Aat	p.D50N	SPINK1_ENST00000296695.5_Missense_Mutation_p.D50N			P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	50	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATTTCCATCAGTCCCACAG	0.323000									Hereditary Pancreatitis				8	43					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111343235	111343235	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:111343235G>A	ENST00000352690.4	+	10	1545	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	CD96_ENST00000283285.5_Silent_p.G451G	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	451	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CCTCCAGTGGGACAGATACCA	0.418000									Opitz Trigonocephaly syndrome				18	92					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66509113	66509113	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:66509113C>T	ENST00000273854.3	-	2	814	c.214G>A	c.(214-216)Gac>Aac	p.D72N	EPHA5_ENST00000432638.2_Missense_Mutation_p.D72N|EPHA5_ENST00000511294.1_Missense_Mutation_p.D72N|EPHA5_ENST00000354839.4_Missense_Mutation_p.D72N	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	72					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATCCCAGGTCCCCCATGACA	0.323000										TSP Lung(17;0.13)			9	49					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282874	152282874	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152282874G>A	ENST00000368799.1	-	3	4523	c.4488C>T	c.(4486-4488)agC>agT	p.S1496S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1496	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)			TTCCTCCTCTGCTTGACCCCG	0.577000									Ichthyosis				78	532					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	80014879	80014879	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:80014879G>A	ENST00000328827.4	-	3	997	c.625C>T	c.(625-627)Cca>Tca	p.P209S		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	209					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GAACTGCCTGGATCTAGTAAG	0.378000													51	188					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402034	9402034	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr20:9402034G>A	ENST00000378501.2	+	23	2224	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PLCB4_ENST00000378473.3_Missense_Mutation_p.E749K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E737K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E749K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E737K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E737K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	737	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E737K(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CATACGTAAGGAATTCCGAAC	0.408000													38	62					0	0	1	0	0
C9orf129	445577	broad.mit.edu	37	9	96097800	96097800	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:96097800C>T	ENST00000375419.1	-	3	584	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	74										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CGTGTGCTTCCCTTCGTGAGG	0.592000													12	67					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334194	108334194	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:108334194G>A	ENST00000520734.1	-	3	423	c.138C>T	c.(136-138)gtC>gtT	p.V46V	ANGPT1_ENST00000520052.1_Silent_p.V46V|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	246					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCTTCTGAAGGACACTGTTGT	0.428000													23	132					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810378	123810378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr11:123810378C>T	ENST00000307033.2	+	1	129	c.55C>T	c.(55-57)Cag>Tag	p.Q19*		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGCTCTCTCAGGTTTGGGA	0.438000													12	105					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538245	31538245	+	Silent	SNP	A	A	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:31538245A>G	ENST00000261592.5	-	7	1491	c.1194T>C	c.(1192-1194)aaT>aaC	p.N398N	NOL4_ENST00000589544.1_Silent_p.N398N|NOL4_ENST00000535475.1_Silent_p.N243N|NOL4_ENST00000535384.1_Silent_p.N113N|NOL4_ENST00000269185.4_Silent_p.N284N|NOL4_ENST00000538587.1_Silent_p.N324N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	398						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CGTCTGTCTCATTAACTTTCT	0.473000													15	154					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	75					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475549	120475549	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:120475549T>G	ENST00000355622.6	+	3	1244	c.1143T>G	c.(1141-1143)agT>agG	p.S381R	TLR4_ENST00000394487.4_Missense_Mutation_p.S341R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	381					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TAGATCTCAGTAGAAATGGCT	0.383000													16	64					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185191098	185191098	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:185191098C>T	ENST00000367500.4	+	15	2404	c.2239C>T	c.(2239-2241)Ccc>Tcc	p.P747S	SWT1_ENST00000367501.3_Missense_Mutation_p.P747S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	747										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TTCTCATCTTCCCCAACCCAG	0.368000													48	175					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611942	17611942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:17611942G>A	ENST00000381869.3	-	2	1848	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*	MTUS1_ENST00000381862.3_Nonsense_Mutation_p.R459*|MTUS1_ENST00000262102.6_Nonsense_Mutation_p.R459*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.R459*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	459						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTAAGCCCTCGATTACCCTTC	0.438000													50	244					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92713532	92713532	+	Silent	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:92713532T>G	ENST00000370360.3	-	17	1569	c.1488A>C	c.(1486-1488)acA>acC	p.T496T	GLMN_ENST00000534881.1_Silent_p.T482T	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	496					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCCAAGTTCTGTCCATAATC	0.294000									Multiple Glomus Tumors (of the Skin), Familial				9	74					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692607	20692607	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:20692607C>T	ENST00000315519.2	+	1	817	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTTGTATTCCCTCTGGTGC	0.473000													11	58					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280720	152280720	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152280720G>A	ENST00000368799.1	-	3	6677	c.6642C>T	c.(6640-6642)tcC>tcT	p.S2214S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2214	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)			CGGCCCAAGAGGAAGCTTCAT	0.557000									Ichthyosis				57	578					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75567585	75567585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr10:75567585G>A	ENST00000299641.4	-	4	1163	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	NDST2_ENST00000309979.6_Missense_Mutation_p.P188S	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	188	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AAAAAAAGGGGAAAGCCCTTG	0.582000													27	52					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130281956	130281956	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:130281956C>T	ENST00000358511.6	+	2	140	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	COL6A6_ENST00000453409.2_Missense_Mutation_p.R37C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	37	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.R37C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGCTCTGATCGCCTGGGATC	0.453000													51	123					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	853458	853458	+	Silent	SNP	G	G	A	rs138681664	by1000genomes	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:853458G>A	ENST00000314167.4	-	24	3329	c.3219C>T	c.(3217-3219)agC>agT	p.S1073S	GAK_ENST00000511163.1_Silent_p.S994S|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1073					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.S1073S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACTTGGTCCAGCTGGCCTGAG	0.607000													26	87					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57758393	57758393	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:57758393G>A	ENST00000269122.3	+	19	3314	c.3040G>A	c.(3040-3042)Gat>Aat	p.D1014N	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.D1014N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1014	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATTGTCCTTGATAACTCTGT	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """								37	120					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909939	119909939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:119909939C>A	ENST00000327554.2	+	3	776	c.311C>A	c.(310-312)tCa>tAa	p.S104*	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	104										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAAAAGATCTCAGAAATCCAC	0.443000													69	247					8.07507e-42	8.26931e-42	1	1	0
MUC16	94025	broad.mit.edu	37	19	9063136	9063136	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:9063136C>T	ENST00000397910.4	-	3	24513	c.24310G>A	c.(24310-24312)Ggc>Agc	p.G8104S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8106	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAAAAAGCCAGGAGTTGAT	0.493000													24	99					0	0	1	0	0
SAT1	6303	broad.mit.edu	37	X	23803853	23803853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:23803853G>A	ENST00000379270.4	+	6	575	c.396G>A	c.(394-396)tgG>tgA	p.W132*	SAT1_ENST00000379254.1_Nonsense_Mutation_p.W104*|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	132	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	TAGCAGAATGGAATGAACCAT	0.448000													37	100					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26906072	26906072	+	Silent	SNP	G	G	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:26906072G>T	ENST00000231021.4	-	5	979	c.807C>A	c.(805-807)ccC>ccA	p.P269P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	269	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P269P(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTACTCTGGGGAAATCGAG	0.428000													17	171					2.27731e-05	2.30437e-05	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41009403	41009403	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:41009403G>A	ENST00000399564.4	-	32	3849	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I	MROH2B_ENST00000506092.2_Silent_p.I688I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.I1133M(1)									CAACCCTGGCGATGTCATCTT	0.507000													25	102					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582835	228582835	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:228582835G>A	ENST00000493030.2	-	5	4312	c.603C>T	c.(601-603)gaC>gaT	p.D201D	TRIM11_ENST00000284551.6_Silent_p.D326D|TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA			Q96F44	TRI11_HUMAN	tripartite motif containing 11	326					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				AGGGGCCGGGGTCAAAGCGCT	0.706000													5	35					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275488	114275488	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr4:114275488C>T	ENST00000357077.4	+	38	5767	c.5714C>T	c.(5713-5715)tCg>tTg	p.S1905L	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1872L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1872	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCACCTGTTTCGCCTTCAGGC	0.493000													41	99					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77267943	77267943	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:77267943C>T	ENST00000248594.6	+	17	2448	c.2176C>T	c.(2176-2178)Cat>Tat	p.H726Y	PTPN12_ENST00000435495.2_Missense_Mutation_p.H596Y|PTPN12_ENST00000415482.2_Missense_Mutation_p.H607Y	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	726						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CTACTTAGATCATCCAGCGGG	0.358000													30	111					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872476	213872476	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:213872476C>T	ENST00000457361.1	-	8	1357	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	IKZF2_ENST00000421754.2_Missense_Mutation_p.E323K|IKZF2_ENST00000434687.1_Missense_Mutation_p.E397K|IKZF2_ENST00000374327.4_Missense_Mutation_p.E252K|IKZF2_ENST00000342002.2_Missense_Mutation_p.E403K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Missense_Mutation_p.E371K|IKZF2_ENST00000451136.2_Missense_Mutation_p.E325K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GGAGAGGCCTCTCTTTCCTGG	0.507000													27	137					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44474080	44474080	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:44474080C>T	ENST00000398165.3	-	17	1825	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G	CBS_ENST00000352178.5_Silent_p.G522G|CBS_ENST00000359624.3_Silent_p.G522G|CBS_ENST00000398168.1_Silent_p.G536G|CBS_ENST00000398158.1_Silent_p.G522G|CBS_ENST00000544202.1_Silent_p.G434G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	522					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GACTGGACTTCCCGGTGCTGT	0.667000													8	64					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520986	52520986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:52520986G>A	ENST00000216286.5	-	4	820	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NID2_ENST00000541773.1_Missense_Mutation_p.S221F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	274						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTCCAACGGGGAAGTGCTGCC	0.507000													4	49					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16450918	16450918	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:16450918C>T	ENST00000334133.4	-	4	677	c.405G>A	c.(403-405)ccG>ccA	p.P135P	RFTN1_ENST00000432519.1_Silent_p.P99P	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	135						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCTGGTCTGTCGGGTGGTCTA	0.458000													7	84					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187715	152187715	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152187715G>A	ENST00000368801.2	-	3	6465	c.6390C>T	c.(6388-6390)tcC>tcT	p.S2130S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2130					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)			CGTAGCCAGAGGAGTGACCTG	0.562000													13	922					0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147692055	147692055	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:147692055C>T	ENST00000274565.4	+	1	70	c.9C>T	c.(7-9)atC>atT	p.I3I	RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000514394.1_3'UTR	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	3						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGAAGATCACTGGGGGTC	0.448000													33	136					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714779	35714779	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:35714779G>A	ENST00000314888.9	-	22	3202	c.2849C>T	c.(2848-2850)cCc>cTc	p.P950L	TLN1_ENST00000540444.1_Missense_Mutation_p.P950L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	950					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGCAGGGGCTGGGGGCC	0.597000													42	132					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488079	51488079	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:51488079G>T	ENST00000340438.4	+	1	1599	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	453					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GCTGGAATCCGGGTCCATTTT	0.423000													21	61					1.96895e-08	1.99914e-08	1	1	0
PAPPA	5069	broad.mit.edu	37	9	118949536	118949536	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:118949536C>T	ENST00000328252.3	+	2	888	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	173					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACTTTTTCTCCTTGAAGACAG	0.527000													12	91					0	0	1	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11729	11729	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrM:11729T>C	ENST00000361381.2	+	1	970	c.970T>C	c.(970-972)Tca>Cca	p.324_324insP						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GACTCACATCCTCATTACTAT	0.478000													147	28					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155861180	155861180	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:155861180C>T	ENST00000471742.1	+	1	430	c.213C>T	c.(211-213)acC>acT	p.T71T	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	82						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGCAGGAAACCACCAGAGCAG	0.488000													17	163					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294012	25294012	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr22:25294012C>T	ENST00000400358.4	+	19	2153	c.2096C>T	c.(2095-2097)cCc>cTc	p.P699L	SGSM1_ENST00000400359.4_Missense_Mutation_p.P754L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	754	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCAAGATCCCCAATGGGAAC	0.547000													5	33					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141202165	141202165	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:141202165C>T	ENST00000389484.3	-	64	11112	c.10141G>A	c.(10141-10143)Gat>Aat	p.D3381N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3381	LDL-receptor class A 22.				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)		TCTCCACAATCATTCTCTCCA	0.403000										TSP Lung(27;0.18)			11	72					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48269352	48269352	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:48269352A>C	ENST00000225964.5	-	30	2135	c.2017T>G	c.(2017-2019)Tct>Gct	p.S673A		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	673	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTGCTCCAGAGGGGCCAGGG	0.602000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						7	10					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153220723	153220723	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:153220723G>A	ENST00000310441.7	-	17	4093	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S	HCFC1_ENST00000354233.3_Missense_Mutation_p.P974S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P1043S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1043					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGGGTGGGCTGGGGGTGT	0.602000													35	165					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511273	195511273	+	Missense_Mutation	SNP	G	G	A	rs149225645	by1000genomes	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:195511273G>A	ENST00000463781.3	-	2	7637	c.7178C>T	c.(7177-7179)gCa>gTa	p.A2393V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2393V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	151					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGC	0.587000													3	11					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225596	61225596	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:61225596C>T	ENST00000382768.1	+	2	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	SERPINB12_ENST00000269491.1_Silent_p.F60F			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	60					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TACTACACTTCAACGAATTTT	0.418000													15	91					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423652	33423652	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:33423652C>T	ENST00000395064.2	+	2	1043	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	259	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P259S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACTGCTACTCCCCGAAAGCT	0.587000													42	88					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721270	63721270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:63721270G>A	ENST00000421025.1	+	4	494	c.225G>A	c.(223-225)tgG>tgA	p.W75*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.W75*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAGAGCCTTGGAATATAAAGA	0.398000													14	46					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724158	38724158	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:38724158G>A	ENST00000342213.2	-	1	1416	c.1070C>T	c.(1069-1071)aCc>aTc	p.T357I		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	357						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CATTTGAAGGGTAGACATCGT	0.493000													22	61					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140968454	140968454	+	Splice_Site	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:140968454C>T	ENST00000277549.5	+	34	4944	c.2373_splice	c.e34-1	p.A792_splice	CACNA1B_ENST00000371363.1_Splice_Site_p.A1596_splice|CACNA1B_ENST00000371357.1_Splice_Site_p.A1597_splice|CACNA1B_ENST00000277551.2_Splice_Site_p.A1598_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.A1599_splice|CACNA1B_ENST00000371372.1_Splice_Site_p.A1598_splice			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1598					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCGCAGGCCCTGCCCTAC	0.637000													16	134					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764270	140764270	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:140764270G>A	ENST00000518325.1	+	1	1804	c.1804G>A	c.(1804-1806)Gcc>Acc	p.A602T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAGAACGCCTGGCTGTC	0.642000													5	170					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413397	65413397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:65413397G>A	ENST00000519389.1	+	8	1627	c.1448G>A	c.(1447-1449)tGg>tAg	p.W483*	HEPH_ENST00000441993.2_Nonsense_Mutation_p.W432*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.W162*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.W432*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W432*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.W429*			Q9BQS7	HEPH_HUMAN	hephaestin	429	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCACTTACTGGAAAGTGCGA	0.373000													13	51					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795689	15795689	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:15795689G>A	ENST00000550308.1	+	8	1362	c.982G>A	c.(982-984)Gga>Aga	p.G328R	CYP4F12_ENST00000324632.9_Missense_Mutation_p.G328R	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTCATGTTTGGAGGTGAGGG	0.527000													18	107					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939584	12939584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:12939584C>T	ENST00000218032.6	+	2	2512	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.Q827*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	809	LRRCT.				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						TCCTGGGGATCAAAGAGGGAA	0.423000													12	150					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101717274	101717274	+	Silent	SNP	C	C	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:101717274C>G	ENST00000318607.5	-	13	2826	c.1698G>C	c.(1696-1698)ctG>ctC	p.L566L	PABPC1_ENST00000519004.1_Silent_p.L521L|PABPC1_ENST00000522387.1_Silent_p.L534L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	566	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TAAGAGGAAACAGCCGTTCAC	0.378000													20	88					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50575716	50575716	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:50575716G>A	ENST00000547825.1	-	4	1608	c.339C>T	c.(337-339)ttC>ttT	p.F113F	LIMA1_ENST00000341247.4_Silent_p.F415F|LIMA1_ENST00000394943.3_Silent_p.F416F|LIMA1_ENST00000552823.1_Silent_p.F255F|LIMA1_ENST00000552909.1_Silent_p.F254F|LIMA1_ENST00000552783.1_Silent_p.F256F|LIMA1_ENST00000552491.1_Silent_p.F112F	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	415					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGGAGCAACGGAAGCAGCTGA	0.488000													19	46					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486280	125486280	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:125486280G>A	ENST00000259466.1	+	1	12	c.12G>A	c.(10-12)aaG>aaA	p.K4K		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGGAGACAAAGAATTATAGCA	0.483000													21	121					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577239	179577239	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:179577239C>T	ENST00000589042.1	-	95	27634	c.27410G>A	c.(27409-27411)gGa>gAa	p.G9137E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8820E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7893E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8820	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGAGGAGTTCCAGTGAATGT	0.418000													19	50					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867487	5867487	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:5867487G>A	ENST00000252675.5	-	5	812	c.250C>T	c.(250-252)Cct>Tct	p.P84S	FUT5_ENST00000588525.1_Missense_Mutation_p.P84S			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	84					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTGTTAAAAGGCCACGTCCAC	0.657000													19	76					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970985	101970985	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:101970985G>A	ENST00000543253.1	+	5	2107	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	GPRASP2_ENST00000332262.5_Silent_p.E396E|GPRASP2_ENST00000535209.1_Silent_p.E396E	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGAAAAAGAGGCCAGTTTGG	0.527000													33	99					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135518445	135518445	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:135518445C>T	ENST00000341911.5	+	10	1749	c.1550C>T	c.(1549-1551)cCc>cTc	p.P517L	MYB_ENST00000531845.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P501L|MYB_ENST00000527615.1_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P514L|MYB_ENST00000533624.1_Intron|MYB_ENST00000316528.8_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	464					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AAAAGCCTACCCTTCTCTCCC	0.493000			T	NFIB	adenoid cystic carcinoma								21	43					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91017135	91017135	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:91017135C>T	ENST00000268182.5	+	21	2565	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S242F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	814	IQ 3.				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)			CAGATTCAGTCCCTGGCAAGG	0.517000													16	75					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281944	152281944	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152281944G>A	ENST00000368799.1	-	3	5453	c.5418C>T	c.(5416-5418)tcC>tcT	p.S1806S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1806	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)			GACCCTCTTGGGACGCTGAGT	0.592000									Ichthyosis				67	522					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32812097	32812097	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr13:32812097C>T	ENST00000380250.3	+	44	6888	c.6392C>T	c.(6391-6393)tCc>tTc	p.S2131F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCAAAATATCCATGGTGGAT	0.498000													34	111					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249324	20249324	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:20249324C>T	ENST00000315957.4	+	1	924	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTAATATTCCCTTTACTTA	0.383000													14	95					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61622572	61622572	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:61622572G>A	ENST00000583023.1	+	13	2649	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K	KCNH6_ENST00000456941.2_Missense_Mutation_p.E791K|KCNH6_ENST00000581784.1_Missense_Mutation_p.E791K|KCNH6_ENST00000314672.5_Missense_Mutation_p.E844K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	880					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TATAGCCTCGGAGACGACGAG	0.627000													51	114					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55088976	55088976	+	Silent	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:55088976G>A	ENST00000302250.2	-	1	253	c.93C>T	c.(91-93)gtC>gtT	p.V31V	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.V31V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	31						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGATGGCAAGGACTATTGCGG	0.572000													19	115					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505344	159505344	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:159505344C>T	ENST00000334857.2	-	1	498	c.454G>A	c.(454-456)Ggt>Agt	p.G152S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ATAGTCAGACCAATGCCAAAG	0.507000													19	83					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632507	102632507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:102632507G>A	ENST00000332549.3	+	4	736	c.507G>A	c.(505-507)tgG>tgA	p.W169*	IL1R2_ENST00000393414.2_Nonsense_Mutation_p.W169*|IL1R2_ENST00000441002.1_Nonsense_Mutation_p.W169*	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	169	Ig-like C2-type 2.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	AGATTCAATGGTACAAGGTAC	0.363000													15	47					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57488191	57488191	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:57488191G>A	ENST00000351747.2	-	10	1282	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	DNAH12_ENST00000389536.4_Missense_Mutation_p.P368S|DNAH12_ENST00000311202.6_Missense_Mutation_p.P368S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	368	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AGCCAAGAGGGGATTGTTTGG	0.333000													23	60					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175051	57175051	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:57175051C>T	ENST00000537055.2	-	2	1747	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCGTGGGAGCTGGGCAAAGG	0.622000													29	189					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059000	79059000	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:79059000C>T	ENST00000388820.4	-	19	3463	c.3253G>A	c.(3253-3255)Gat>Aat	p.D1085N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1085					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGTCTAGATCGGGCTCCTCA	0.637000													8	59					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103699889	103699889	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:103699889G>A	ENST00000548048.1	-	8	789	c.293C>T	c.(292-294)tCa>tTa	p.S98L	C12orf42_ENST00000548883.1_Missense_Mutation_p.S165L|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.S165L|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	165										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTCCAAAAATGAACTGTTCCA	0.488000													15	85					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27398083	27398083	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:27398083T>C	ENST00000521400.1	+	15	1719	c.1289T>C	c.(1288-1290)gTa>gCa	p.V430A	EPHX2_ENST00000380476.3_Missense_Mutation_p.V377A|EPHX2_ENST00000517536.1_Missense_Mutation_p.V247A|EPHX2_ENST00000518379.1_Missense_Mutation_p.V398A|EPHX2_ENST00000521780.1_Missense_Mutation_p.V364A	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	430	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGACTTTTTGTAAATAGCCCA	0.502000													34	52					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526475	71526475	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:71526475C>T	ENST00000393330.2	-	10	1126	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TSPAN8_ENST00000552128.1_Missense_Mutation_p.E109K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.E192K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.E192K			P19075	TSN8_HUMAN	tetraspanin 8	192					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.E192Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GTTCTCACCTCTTTGTAAACT	0.343000													36	116					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153208325	153208325	+	Silent	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chrX:153208325C>T	ENST00000393700.3	-	6	749	c.669G>A	c.(667-669)agG>agA	p.R223R	RENBP_ENST00000369997.3_Silent_p.R209R|RENBP_ENST00000412763.1_Silent_p.R223R|RENBP_ENST00000462086.1_5'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	223					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCTGCAGAATCCTCCGGGCGC	0.677000													59	197					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14850220	14850220	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr18:14850220T>G	ENST00000358984.4	+	35	3226	c.3046T>G	c.(3046-3048)Tta>Gta	p.L1016V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1101										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAGATTGACTTTAAATCAAGA	0.284000													5	10					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283365	152283365	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:152283365G>C	ENST00000368799.1	-	3	4032	c.3997C>G	c.(3997-3999)Cac>Gac	p.H1333D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1333	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)			GACTCTGTGTGATGAGTGCCT	0.547000									Ichthyosis				67	470					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753350	13753350	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:13753350C>T	ENST00000265104.4	-	63	10968	c.10864G>A	c.(10864-10866)Gaa>Aaa	p.E3622K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3622	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTGGAGTTCATTTCGGCTT	0.333000									Kartagener syndrome				22	62					0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	706362	706362	+	RNA	DEL	G	G	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:706362delG	ENST00000428504.1	-	0	585					NR_033908.1																						AGTGACGTCAGGGGGCAGAGA	0.622													5	1	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	144056591	144056592	+	RNA	INS	-	-	A	rs58511588		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:144056591_144056592insA	ENST00000467933.1	+	0	1271																											ccctgactcctaaaaaaaaaaa	0.465													2	4	---	---	---	---					
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr1:154962050delA	ENST00000368433.1	+	3	1475	c.1132delA	c.(1132-1134)aafs	p.K379fs	FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000292180.3_Frame_Shift_Del_p.K379fs|FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	379					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567													7	166	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													5	9	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141232780	141232780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:141232780delA	ENST00000389484.3	-	60	10523	c.9552delT	c.(9550-9552)gtfs	p.V3184fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3184					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)		GTCTACGATTAACATAATCTA	0.383										TSP Lung(27;0.18)			23	94	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr2:227660808_227660810delGCT	ENST00000305123.4	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)ccc>c	p.QP882del		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													8	137	---	---	---	---					
SATB1-AS1	101927777	broad.mit.edu	37	3	18831183	18831183	+	RNA	DEL	A	A	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:18831183delA	ENST00000425799.2	+	0	360																											Agcaatgaataaaatataaca	0.428													2	4	---	---	---	---					
LINC00879	255025	broad.mit.edu	37	3	94676752	94676753	+	RNA	DEL	GT	GT	-	rs113891789		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:94676752_94676753delGT	ENST00000463200.1	+	0	64					NR_015400.1																						CTCTCTCTCCgtgtgtgtgtgt	0.411													2	4	---	---	---	---					
NPHP3-AS1	348808	broad.mit.edu	37	3	132532132	132532132	+	RNA	DEL	T	T	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:132532132delT	ENST00000504440.1	+	0	645					NR_002811.1																						tagtattatcttttagtgtaa	0.448													2	4	---	---	---	---					
LINC01322	103695433	broad.mit.edu	37	3	165286363	165286364	+	RNA	DEL	TA	TA	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr3:165286363_165286364delTA	ENST00000496693.1	+	0	312																											ggaagttttctatatgcatatg	0.376													4	2	---	---	---	---					
CTD-2337A12.1	0	broad.mit.edu	37	5	95691414	95691415	+	RNA	INS	-	-	T			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr5:95691414_95691415insT	ENST00000502645.2	+	0	267																											gacgtcttttattttttttttg	0.441													2	4	---	---	---	---					
LOC100505530	100505530	broad.mit.edu	37	6	37482857	37482858	+	RNA	DEL	TC	TC	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr6:37482857_37482858delTC	ENST00000570443.2	+	0	357																											CTGGCTTCCTTCTCTCTCTCCC	0.624													2	4	---	---	---	---					
AC073316.1	0	broad.mit.edu	37	7	3310185	3310187	+	RNA	DEL	TGA	TGA	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:3310185_3310187delTGA	ENST00000437354.1	-	0	224																											gtgttggtggtgatgatgatgat	0.384													2	4	---	---	---	---					
LOC100289098	100289098	broad.mit.edu	37	7	65959252	65959252	+	RNA	DEL	G	G	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:65959252delG	ENST00000445681.1	+	0	320																											ATAAGCGATCGggccgggcgc	0.532													4	2	---	---	---	---					
STEAP2-AS1	100874100	broad.mit.edu	37	7	89766558	89766559	+	RNA	DEL	AG	AG	-	rs72087736		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr7:89766558_89766559delAG	ENST00000478318.2	-	0	424																											agagactgcaagagagagagag	0.485													2	4	---	---	---	---					
LOC102724623	102724623	broad.mit.edu	37	8	65124695	65124696	+	RNA	DEL	GA	GA	-	rs151049593		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr8:65124695_65124696delGA	ENST00000524360.1	-	0	128				RP11-32K4.1_ENST00000520365.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA|RP11-32K4.1_ENST00000523191.1_RNA																							ccaacatggtgagcccctgtct	0.515													3	3	---	---	---	---					
UNQ6494	100129066	broad.mit.edu	37	9	92324756	92324756	+	RNA	DEL	G	G	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr9:92324756delG	ENST00000444374.1	+	0	338																											ATGAGGCAGAGGTCCAAGTAA	0.502													2	4	---	---	---	---					
RP11-897M7.1	0	broad.mit.edu	37	12	131962110	131962111	+	RNA	INS	-	-	ATA	rs141746341		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr12:131962110_131962111insATA	ENST00000535133.1	-	0	195																											tggtaatggtggtgatgatggt	0.396													3	6	---	---	---	---					
C14orf180	400258	broad.mit.edu	37	14	105055066	105055066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr14:105055066delC	ENST00000557649.1	+	5	765	c.429delC	c.(427-429)gtfs	p.V143fs	C14orf180_ENST00000410013.1_Frame_Shift_Del_p.V143fs|C14orf180_ENST00000331952.2_Frame_Shift_Del_p.P129fs			Q8N912	CN180_HUMAN	chromosome 14 open reading frame 180	143						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		TCGGCCTTGTCCTGCACCTGC	0.726													2	4	---	---	---	---					
RP11-34F13.3	0	broad.mit.edu	37	15	68159436	68159437	+	RNA	INS	-	-	AA	rs113632278		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:68159436_68159437insAA	ENST00000558889.1	+	0	121																											gagactctgttaaaaaaaaaaa	0.416													2	4	---	---	---	---					
LINC00928	283761	broad.mit.edu	37	15	90061443	90061443	+	RNA	DEL	G	G	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr15:90061443delG	ENST00000561201.1	-	0	454					NR_027075.1																						gggaggctgaggcaggagaat	0.527													2	4	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32833366	32833366	+	RNA	DEL	T	T	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:32833366delT	ENST00000569859.1	+	0	373																											ttttcctttctttttctttct	0.393													2	4	---	---	---	---					
PIEZO1	9780	broad.mit.edu	37	16	88800396	88800398	+	In_Frame_Del	DEL	CTG	CTG	-	rs62639697		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr16:88800396_88800398delCTG	ENST00000301015.9	-	17	2491_2493	c.2245_2247delCAG	c.(2245-2247)del	p.Q749del	RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	749						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity	p.Q749delQ(1)|p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						cctcctcctcctgctgctgctgc	0.665													8	5	---	---	---	---					
RUNDC3A	10900	broad.mit.edu	37	17	42392633	42392633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:42392633delG	ENST00000426726.3	+	7	1014	c.740delG	c.(739-741)tgfs	p.W247fs	RUNDC3A_ENST00000590941.1_Frame_Shift_Del_p.W242fs|RUNDC3A_ENST00000225441.7_Frame_Shift_Del_p.W247fs|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	247	Interaction with RAP2A (By similarity).				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAGGACAGCTGGTACAGCAAG	0.706													2	4	---	---	---	---					
SLC16A6P1	440459	broad.mit.edu	37	17	62949704	62949706	+	RNA	DEL	GGA	GGA	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr17:62949704_62949706delGGA	ENST00000577423.1	+	0	124																											AATGAAATCTGGATCCATATTTC	0.315													3	3	---	---	---	---					
PIP5K1C	23396	broad.mit.edu	37	19	3653304	3653304	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:3653304delA	ENST00000335312.3	-	7	993	c.905delT	c.(904-906)cgfs	p.L302fs	PIP5K1C_ENST00000589578.1_Frame_Shift_Del_p.L302fs|PIP5K1C_ENST00000537021.1_Frame_Shift_Del_p.L302fs|PIP5K1C_ENST00000539785.1_Frame_Shift_Del_p.L302fs|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	302	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GTCCCGCTGCAGCGTCTTGAC	0.701													20	42	---	---	---	---					
UHRF1	29128	broad.mit.edu	37	19	4918120	4918121	+	RNA	INS	-	-	T	rs78105068		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:4918120_4918121insT	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTTGCTATGGgtttttttttgt	0.470													2	4	---	---	---	---					
ADGRE4P	326342	broad.mit.edu	37	19	6981549	6981549	+	RNA	DEL	C	C	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr19:6981549delC	ENST00000600751.1	-	0	453					NR_024075.1																						acacacatcacccccaaggta	0.502													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11032608	11032608	+	RNA	DEL	T	T	-	rs2257758		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:11032608delT	ENST00000470054.1	-	0	1476									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTAAATTCTTTTTAGTCAA	0.289													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11063807	11063807	+	RNA	DEL	A	A	-	rs150234027		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:11063807delA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tattcagaggaaaaaaatata	0.284													8	1	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11069789	11069790	+	RNA	INS	-	-	T	rs141116307		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:11069789_11069790insT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aggagctggagtgggaggtagg	0.376													4	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11092162	11092164	+	RNA	DEL	TTG	TTG	-			TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:11092162_11092164delTTG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTAGGTTTTTTGTTGTTGtttg	0.404													3	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11093540	11093541	+	RNA	INS	-	-	C	rs149835852		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:11093540_11093541insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCTAAAGCCACATCAGAACCA	0.436													3	6	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11180400	11180401	+	RNA	INS	-	-	G	rs146480043		TCGA-FR-A728-01A-11D-A32N-08	TCGA-FR-A728-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de67764e-4c18-4862-9942-b18aab8f1a18	5a6cd8dc-76f4-49ac-8a33-a074da9537c5	g.chr21:11180400_11180401insG	ENST00000603265.1	+	0	231																											cactgcaaaaaaaatatggtat	0.332													6	4	---	---	---	---