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
BRMS1L	84312	broad.mit.edu	37	14	36302283	36302283	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr14:36302283A>C	ENST00000216807.7	+	3	532	c.333A>C	c.(331-333)gaA>gaC	p.E111D	BRMS1L_ENST00000543183.1_Missense_Mutation_p.E63D	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	111					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CTTTACAGGAAAATATGCAAA	0.363000													5	63					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134802	114134802	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr9:114134802C>T	ENST00000259335.4	-	43	4968	c.4969G>A	c.(4969-4971)Gca>Aca	p.A1657T	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.A1479T	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCTAAAAATGCCAGAGGCAGG	0.403000													10	82					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574289	140574289	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:140574289G>T	ENST00000239446.4	+	1	2348	c.2164G>T	c.(2164-2166)Gcc>Tcc	p.A722S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		722					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCAGGGCGGCCTCGGTGGG	0.662000													36	113					1.96642e-18	2.85352e-18	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159283532	159283532	+	Silent	SNP	C	C	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:159283532C>G	ENST00000332217.5	-	1	917	c.918G>C	c.(916-918)ggG>ggC	p.G306G		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGTTTTTTGCCCCACGGCTCT	0.428000													26	95					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													3	7					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20386184	20386184	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr16:20386184C>G	ENST00000302451.4	-	5	889	c.641G>C	c.(640-642)cGt>cCt	p.R214P		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	214					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GACGTGGAAACGCCCAATGAC	0.433000													9	127					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41309571	41309571	+	Missense_Mutation	SNP	T	T	C	rs151035226		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr6:41309571T>C	ENST00000373083.4	+	3	656	c.434T>C	c.(433-435)cTg>cCg	p.L145P	NCR2_ENST00000373086.3_Missense_Mutation_p.L145P|NCR2_ENST00000373089.5_Missense_Mutation_p.L145P	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	145					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCCGCGACCTGGTCTCTTCA	0.612000													13	56					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44839252	44839252	+	Missense_Mutation	SNP	A	A	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr21:44839252A>C	ENST00000270162.6	-	10	1358	c.1226T>G	c.(1225-1227)cTc>cGc	p.L409R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	409					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CGAGCTCTGGAGCTCACAGTC	0.677000													4	26					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709413	31709413	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr21:31709413C>T	ENST00000382835.2	-	1	599	c.574G>A	c.(574-576)Gtt>Att	p.V192I		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	192						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GTTGGTTCAACTCCTGGAGAA	0.438000													25	52					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39580583	39580583	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:39580583G>A	ENST00000225550.3	-	1	192	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	65	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGAGGCTGGGGCGGCCCAGG	0.632000													7	74					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70782820	70782820	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chrX:70782820C>T	ENST00000373719.3	+	16	2318	c.2101C>T	c.(2101-2103)Cac>Tac	p.H701Y	OGT_ENST00000373701.3_Missense_Mutation_p.H691Y	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	701					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTATATGCCCCACACTTTTTT	0.403000													35	94					0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17830765	17830765	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:17830765A>T	ENST00000406397.1	+	3	776	c.251A>T	c.(250-252)gAg>gTg	p.E84V	VSNL1_ENST00000404666.2_Missense_Mutation_p.E84V|VSNL1_ENST00000295156.4_Missense_Mutation_p.E84V			P62760	VISL1_HUMAN	visinin-like 1	84	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GACTTCCGAGAGTTCATCTGC	0.527000													15	141					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869697	47869697	+	Missense_Mutation	SNP	A	A	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr7:47869697A>G	ENST00000289672.2	-	43	6549	c.6499T>C	c.(6499-6501)Tgg>Cgg	p.W2167R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2167					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGTGCAGCCACTGCACACAT	0.567000													16	18					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31222863	31222863	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr15:31222863C>A	ENST00000362065.4	+	13	3196	c.2905C>A	c.(2905-2907)Cgt>Agt	p.R969S		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	969	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTCCCAGAGCCGTCACTTTAA	0.557000								Direct reversal of damage					12	66					4.3838e-07	5.32122e-07	1	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55062927	55062927	+	RNA	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:55062927C>T	ENST00000526016.1	-	0	710					NR_038174.2																						ACCCCATGGTCAGTTCGTACT	0.428000													15	34					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57110750	57110750	+	Missense_Mutation	SNP	G	G	A	rs150288570		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr16:57110750G>A	ENST00000262510.6	+	40	4996	c.4771G>A	c.(4771-4773)Ggt>Agt	p.G1591S	NLRC5_ENST00000308149.7_Missense_Mutation_p.G1562S|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.G1562S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1591					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)				GAACAGTATCGGTGATGTCGG	0.532000													8	72					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220487	1220487	+	Missense_Mutation	SNP	G	G	C	rs121913315		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr19:1220487G>C	ENST00000326873.7	+	4	1753	c.580G>C	c.(580-582)Gac>Cac	p.D194H		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	194	Protein kinase.		D -> N (in PJS).|D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAATCTCCGACCTGGGCGT	0.677000	D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER)	14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			3	6					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881403	18881403	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:18881403C>T	ENST00000388995.6	-	5	1799	c.1576G>A	c.(1576-1578)Gtc>Atc	p.V526I	FAM83G_ENST00000345041.4_Missense_Mutation_p.V526I|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V526I			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	526										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGCTCCAGGACCCAGCCAATA	0.657000													10	83					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135139899	135139899	+	Silent	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr9:135139899T>A	ENST00000372169.2	-	27	8030	c.7848A>T	c.(7846-7848)atA>atT	p.I2616I	SETX_ENST00000393220.1_Silent_p.I2554I|SETX_ENST00000224140.5_Silent_p.I2587I|SETX_ENST00000477049.1_5'UTR			Q7Z333	SETX_HUMAN	senataxin	2587					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CGGGCTGCTGTATATGGCTCA	0.637000													28	118					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186415579	186415579	+	Silent	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:186415579T>A	ENST00000391997.2	-	3	279	c.192A>T	c.(190-192)tcA>tcT	p.S64S	PDC_ENST00000497198.1_Silent_p.S12S|PDC_ENST00000340129.5_Silent_p.S64S|PDC_ENST00000456239.2_Silent_p.S12S	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CTCGTTCCTTTGAATCTTTGC	0.338000													23	76					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545287	234545287	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:234545287C>T	ENST00000344644.5	+	1	188	c.119C>T	c.(118-120)aCc>aTc	p.T40I	UGT1A10_ENST00000373445.1_Missense_Mutation_p.T40I|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACTGGTTCACCATGCAGTCG	0.542000													8	151					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10439904	10439904	+	Silent	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:10439904G>T	ENST00000245503.5	-	17	2301	c.1917C>A	c.(1915-1917)gcC>gcA	p.A639A	MYH2_ENST00000532183.1_Silent_p.A639A|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.A639A|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	639	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCTTTCTTGGCCCCTCCAC	0.423000													5	41					0.0381472	0.0389546	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35624506	35624506	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:35624506C>A	ENST00000287272.2	+	14	2213	c.2193C>A	c.(2191-2193)acC>acA	p.T731T	UNC5D_ENST00000449677.1_Silent_p.T376T|UNC5D_ENST00000416672.1_Silent_p.T805T|UNC5D_ENST00000453357.2_Silent_p.T795T|UNC5D_ENST00000404895.2_Silent_p.T800T|UNC5D_ENST00000420357.1_Silent_p.T733T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	800					apoptosis|axon guidance	integral to membrane	receptor activity	p.T795T(1)		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)		CCACTACCACCCAGCTGTCCT	0.572000													54	71					9.86064e-34	1.5104e-33	1	1	0
MFI2	4241	broad.mit.edu	37	3	196733532	196733532	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr3:196733532G>T	ENST00000296350.5	-	14	1939	c.1826C>A	c.(1825-1827)gCc>gAc	p.A609D		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	609	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGACACCTCGGCTCGGGCCCC	0.617000													10	22					0.00621372	0.00666248	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152722347	152722347	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr6:152722347A>T	ENST00000367255.5	-	47	7556	c.6955T>A	c.(6955-6957)Tgg>Agg	p.W2319R	SYNE1_ENST00000265368.4_Missense_Mutation_p.W2319R|SYNE1_ENST00000448038.1_Missense_Mutation_p.W2326R|SYNE1_ENST00000423061.1_Missense_Mutation_p.W2326R|SYNE1_ENST00000341594.5_Missense_Mutation_p.W2356R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2319					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGTGAACCATGTTGTTATG	0.378000										HNSCC(10;0.0054)			13	89					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353903	77353903	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr16:77353903C>T	ENST00000282849.5	-	16	2793	c.2375G>A	c.(2374-2376)cGa>cAa	p.R792Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	792	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTGAGGCTTCGAACTGCGAG	0.542000													5	63					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113644388	113644388	+	Translation_Start_Site	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:113644388T>C	ENST00000200135.3	-	1	145	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	1					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AACGAGGCCATGGCCAAGACG	0.662000													26	36					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224831597	224831597	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:224831597C>T	ENST00000258383.3	+	4	914	c.845C>T	c.(844-846)gCa>gTa	p.A282V	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	282	DRBM.				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)		AAGTTGATTGCAGAAGGACCT	0.393000													48	83					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50472251	50472251	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:50472251G>T	ENST00000228468.4	+	6	1270	c.885G>T	c.(883-885)atG>atT	p.M295I	ASIC1_ENST00000447966.2_Missense_Mutation_p.M295I|ASIC1_ENST00000552438.1_Missense_Mutation_p.M329I	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	295					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGTTACCATGGACTCGGATT	0.607000													32	114					3.57733e-08	4.45435e-08	1	1	0
STYX	6815	broad.mit.edu	37	14	53211592	53211592	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr14:53211592G>T	ENST00000354586.4	+	2	373	c.80G>T	c.(79-81)cGa>cTa	p.R27L	STYX_ENST00000442123.2_Missense_Mutation_p.R27L|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	27					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					CCTATGAGACGAGAGATGCAG	0.363000													6	51					0.00307968	0.0033392	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79029022	79029022	+	Silent	SNP	A	A	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:79029022A>G	ENST00000446378.2	+	2	4465	c.4434A>G	c.(4432-4434)tcA>tcG	p.S1478S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1478						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAAAACATCATCTTCTCAGC	0.388000													26	123					0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44054352	44054352	+	RNA	SNP	T	T	C	rs56000326	by1000genomes	TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr7:44054352T>C	ENST00000427076.1	-	0	209					NR_003655.2																						AGCCAGCAAATAGCACTTGCG	0.577000													13	161					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112471818	112471818	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr6:112471818C>A	ENST00000230538.7	-	17	2465	c.2068G>T	c.(2068-2070)Gca>Tca	p.A690S	LAMA4_ENST00000424408.2_Missense_Mutation_p.A683S|LAMA4_ENST00000522006.1_Missense_Mutation_p.A683S|LAMA4_ENST00000389463.4_Missense_Mutation_p.A683S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	690	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCAGCCACTGCTTCATCACTG	0.488000													19	91					4.96729e-08	6.14543e-08	1	1	0
RPS5	6193	broad.mit.edu	37	19	58905907	58905907	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr19:58905907G>C	ENST00000596046.1	+	4	1340	c.491G>C	c.(490-492)cGg>cCg	p.R164P	RPS5_ENST00000598495.1_Missense_Mutation_p.R185P|RPS5_ENST00000196551.3_Missense_Mutation_p.R164P|RPS5_ENST00000601521.1_Missense_Mutation_p.R164P|RPS5_ENST00000598098.1_Missense_Mutation_p.R94P			P46782	RS5_HUMAN	ribosomal protein S5	164					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCTGCCTTCCGGAACATTAAG	0.592000													8	97					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092411	147092411	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:147092411T>C	ENST00000234739.3	+	8	3190	c.2450T>C	c.(2449-2451)aTg>aCg	p.M817T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	817	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTCAGTCATATGCCACCACTA	0.577000			T	"""IGH@, IGL@"""	B-ALL								13	55					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202418	248202418	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:248202418G>T	ENST00000366479.2	+	1	945	c.849G>T	c.(847-849)atG>atT	p.M283I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCACCCCAATGCTCAACCCCA	0.468000													36	138					3.03874e-20	4.44301e-20	1	1	0
FN3KRP	79672	broad.mit.edu	37	17	80684397	80684397	+	Silent	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:80684397G>A	ENST00000269373.6	+	5	583	c.510G>A	c.(508-510)cgG>cgA	p.R170R	FN3KRP_ENST00000535965.1_Silent_p.R120R	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	170							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCTATGCCCGGCAGCGCATTC	0.587000													17	161					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370728	240370728	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:240370728C>A	ENST00000319653.9	+	5	2846	c.2616C>A	c.(2614-2616)ggC>ggA	p.G872G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	872	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCATGCCTGGCCTGGGCATGG	0.592000													33	108					6.90743e-12	9.13105e-12	1	1	0
FLG	2312	broad.mit.edu	37	1	152276069	152276069	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:152276069T>C	ENST00000368799.1	-	3	11328	c.11293A>G	c.(11293-11295)Agg>Ggg	p.R3765G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3765	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)			CCTCCTCTCCTTGACCCCGGG	0.597000									Ichthyosis				32	736					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296466	39296466	+	Missense_Mutation	SNP	G	G	A	rs35985080	by1000genomes	TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:39296466G>A	ENST00000345847.4	-	1	273	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	88	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGGTCTGCAGCAG	0.657000													6	55					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680406	128680406	+	Silent	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:128680406C>T	ENST00000344954.6	+	9	1171	c.783C>T	c.(781-783)agC>agT	p.S261S	FLI1_ENST00000429175.2_Silent_p.S294S|FLI1_ENST00000534087.1_Silent_p.S261S|FLI1_ENST00000525560.1_Silent_p.S101S|FLI1_ENST00000281428.8_Silent_p.S228S			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	294					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCTCCGACAGCGCCAACGCCA	0.627000			T	EWSR1	Ewing sarcoma								4	13					0	0	1	0	0
EMD	2010	broad.mit.edu	37	X	153608673	153608673	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chrX:153608673G>T	ENST00000369842.4	+	4	633	c.345G>T	c.(343-345)agG>agT	p.R115S	EMD_ENST00000369835.3_Missense_Mutation_p.R80S|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	115	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GCCCGTCCAGGGCTGTCCGCC	0.592000													14	59					1.62849e-17	2.29415e-17	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29639253	29639253	+	Silent	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:29639253T>C	ENST00000318184.5	-	8	920	c.921A>G	c.(919-921)aaA>aaG	p.K307K	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	307	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGAGCCCACTTTTGAGAGGG	0.403000													11	76					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530461	84530461	+	RNA	SNP	G	G	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr9:84530461G>C	ENST00000527857.1	+	0	483					NR_026851.1																						GAAAGATGCTGTTCCCTTTGT	0.512000													7	37					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101835692	101835692	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr10:101835692G>T	ENST00000370418.3	-	2	647	c.396C>A	c.(394-396)gaC>gaA	p.D132E		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	132	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCTCGTAGCCGTCGGGGTTCA	0.572000													19	48					2.35188e-11	3.08784e-11	1	1	0
RYR2	6262	broad.mit.edu	37	1	237982468	237982468	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:237982468G>T	ENST00000366574.2	+	101	14883	c.14566G>T	c.(14566-14568)Gtc>Ttc	p.V4856F	RYR2_ENST00000542537.1_Missense_Mutation_p.V4840F|RYR2_ENST00000360064.6_Missense_Mutation_p.V4862F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4856					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4854I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTGTTATTGTCATTCTCTT	0.403000													22	92					3.62473e-10	4.66382e-10	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112638514	112638514	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:112638514G>T	ENST00000550722.1	-	55	8452	c.8057C>A	c.(8056-8058)cCc>cAc	p.P2686H	HECTD4_ENST00000430131.2_Missense_Mutation_p.P2410H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2660H	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCCTGCTGGGGGCCTTTCCAA	0.507000													5	50					0.000602214	0.000664156	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29159372	29159372	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:29159372G>C	ENST00000321990.4	+	1	385	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	3					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAGTATGGTGGGGGTCCTGGC	0.652000													15	68					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183730938	183730938	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:183730938C>A	ENST00000295113.4	-	1	952	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	115	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A115S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCCTGCCGGGCCCGCTCGCAC	0.622000													5	42					0.0215528	0.0222443	1	1	0
CACHD1	57685	broad.mit.edu	37	1	65157012	65157012	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:65157012G>T	ENST00000371073.2	+	27	3593	c.3593G>T	c.(3592-3594)aGc>aTc	p.S1198I	CACHD1_ENST00000290039.5_Missense_Mutation_p.S1147I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1198					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTAGGTTACAGCACCATGAGC	0.483000													19	66					2.94398e-08	3.68954e-08	1	1	0
NEB	4703	broad.mit.edu	37	2	152417530	152417530	+	Silent	SNP	A	A	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:152417530A>G	ENST00000427231.2	-	123	19396	c.19194T>C	c.(19192-19194)aaT>aaC	p.N6398N	NEB_ENST00000409198.1_Silent_p.N4697N|NEB_ENST00000172853.10_Silent_p.N4697N|NEB_ENST00000604864.1_Silent_p.N6398N|NEB_ENST00000603639.1_Silent_p.N6398N|NEB_ENST00000397345.3_Silent_p.N6398N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6395					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCTGTAAAGATTCTTCAGGT	0.373000													3	22					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516312	140516312	+	Silent	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:140516312C>T	ENST00000231134.5	+	1	1513	c.1296C>T	c.(1294-1296)acC>acT	p.T432T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		432	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGAAAACCGAGCACAACA	0.557000													34	105					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941075	13941075	+	Silent	SNP	C	C	T	rs112261548	byFrequency	TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr19:13941075C>T	ENST00000254323.2	+	13	2370	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	ZSWIM4_ENST00000440752.2_Silent_p.I561I	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	727							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGGCTACCATCGTGGCAGTGA	0.627000													6	67					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71125456	71125456	+	Splice_Site	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr15:71125456C>A	ENST00000299213.8	-	3	482		c.e3-1			NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6						RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GATGTTTCACCTGCAGAACAT	0.453000													5	62					0.00116845	0.00127407	1	1	0
PRRX1	5396	broad.mit.edu	37	1	170705269	170705269	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:170705269T>A	ENST00000239461.6	+	4	993	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGCCAACCTGAGACTGAAG	0.453000													43	170					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225662578	225662578	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:225662578A>T	ENST00000409592.3	-	42	4710	c.4597T>A	c.(4597-4599)Ttt>Att	p.F1533I	DOCK10_ENST00000258390.7_Missense_Mutation_p.F1539I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1539							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGGAGGCAAACACATGCTTC	0.408000													11	203					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15790651	15790651	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr16:15790651G>A	ENST00000396355.1	+	9	1707	c.881G>A	c.(880-882)aGc>aAc	p.S294N	NDE1_ENST00000342673.5_Missense_Mutation_p.S294N|NDE1_ENST00000396353.2_Missense_Mutation_p.S294N|NDE1_ENST00000396354.1_Missense_Mutation_p.S294N	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	294					cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TCTGGGCGGAGCAGCAAGAAC	0.587000													8	56					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37035048	37035048	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr3:37035048G>T	ENST00000231790.2	+	1	226	c.10G>T	c.(10-12)Gtg>Ttg	p.V4L		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	4					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AATGTCGTTCGTGGCAGGGGT	0.552000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				23	47					9.95505e-16	1.36264e-15	1	1	0
OPN1MW2	728458	broad.mit.edu	37	X	153496075	153496075	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chrX:153496075G>T	ENST00000369929.4	+	5	863	c.803G>T	c.(802-804)cGc>cTc	p.R268L	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2									p.R268H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGTGACGCGCATGGTGGTG	0.587000													35	57					6.5261e-18	9.32991e-18	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140953545	140953545	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr9:140953545C>A	ENST00000277549.5	+	31	4645	c.2076C>A	c.(2074-2076)ccC>ccA	p.P692P	CACNA1B_ENST00000371372.1_Silent_p.P1496P|CACNA1B_ENST00000371357.1_Silent_p.P1497P|CACNA1B_ENST00000371363.1_Silent_p.P1496P|CACNA1B_ENST00000371355.4_Silent_p.P1497P|CACNA1B_ENST00000277551.2_Silent_p.P1496P			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1496					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)	ATGATGCACCCTATGAGTACG	0.542000													5	23					0.014758	0.0153134	1	1	0
PDCL2	132954	broad.mit.edu	37	4	56448363	56448363	+	Silent	SNP	A	A	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr4:56448363A>G	ENST00000295645.4	-	2	150	c.48T>C	c.(46-48)gaT>gaC	p.D16D		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	16										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			GAATGCCGAAATCTCTTAAAA	0.333000													6	49					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219587	180219587	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:180219587G>A	ENST00000446023.2	-	3	1135	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	MGAT1_ENST00000307826.4_Missense_Mutation_p.R129W|MGAT1_ENST00000427865.2_Missense_Mutation_p.R129W|MGAT1_ENST00000333055.3_Missense_Mutation_p.R129W|MGAT1_ENST00000393340.3_Missense_Mutation_p.R129W	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	129					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGAGGGCCGATAATGCAGC	0.667000													7	44					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134622002	134622002	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr10:134622002C>T	ENST00000368586.5	-	58	8171	c.8071G>A	c.(8071-8073)Ggc>Agc	p.G2691S	TTC40_ENST00000263170.5_Missense_Mutation_p.G852S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	852										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AAGGGGAGGCCGCCCTTGTCC	0.602000													14	126					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89311973	89311973	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr10:89311973G>T	ENST00000371996.4	+	5	1243	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	MINPP1_ENST00000536010.1_Missense_Mutation_p.R200L|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	401					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CAAATGCATCGGAAGTTCCGA	0.423000													35	110					2.42023e-17	3.38482e-17	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99715952	99715952	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:99715952G>T	ENST00000524871.1	+	6	825	c.535G>T	c.(535-537)Gtg>Ttg	p.V179L	CNTN5_ENST00000528682.1_Missense_Mutation_p.V179L|CNTN5_ENST00000527185.1_Missense_Mutation_p.V179L|CNTN5_ENST00000279463.3_Missense_Mutation_p.V179L|CNTN5_ENST00000418526.2_Missense_Mutation_p.V105L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	179	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AACCAACACTGTGGGGAGTAT	0.353000													54	94					7.10663e-31	1.07155e-30	1	1	0
TCHH	7062	broad.mit.edu	37	1	152080458	152080458	+	Silent	SNP	G	G	A	rs71585886		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:152080458G>A	ENST00000368804.1	-	2	5234	c.5235C>T	c.(5233-5235)cgC>cgT	p.R1745R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1745	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTTCTGTAGCGTTCTTGGC	0.587000													9	112					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526483	71526483	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:71526483A>T	ENST00000393330.2	-	10	1118	c.566T>A	c.(565-567)gTt>gAt	p.V189D	TSPAN8_ENST00000552128.1_Missense_Mutation_p.V106D|TSPAN8_ENST00000546561.1_Missense_Mutation_p.V189D|TSPAN8_ENST00000247829.3_Missense_Mutation_p.V189D			P19075	TSN8_HUMAN	tetraspanin 8	189					protein glycosylation	integral to membrane|lysosome	signal transducer activity			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)			CTCTTTGTAAACTTGTTTTCC	0.343000													14	99					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228464187	228464187	+	Missense_Mutation	SNP	T	T	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:228464187T>G	ENST00000570156.2	+	26	7456	c.7382T>G	c.(7381-7383)gTg>gGg	p.V2461G	OBSCN_ENST00000284548.11_Missense_Mutation_p.V2086G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2086G|OBSCN_ENST00000359599.6_Missense_Mutation_p.V933G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1452					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCAGGCAGTGGAGGCACGG	0.677000													11	68					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165948804	165948804	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:165948804C>G	ENST00000360093.3	-	27	5258	c.4767G>C	c.(4765-4767)tgG>tgC	p.W1589C	SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000409101.3_Missense_Mutation_p.W1540C|SCN3A_ENST00000283254.7_Missense_Mutation_p.W1589C|SCN3A_ENST00000540861.1_Missense_Mutation_p.W72C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1589						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAAGATGTTCCAGCCTATAG	0.433000													42	48					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37822127	37822127	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:37822127C>T	ENST00000309889.2	+	2	1442	c.269C>T	c.(268-270)cCg>cTg	p.P90L	TCAP_ENST00000578283.1_Missense_Mutation_p.P66L			O15273	TELT_HUMAN	titin-cap	90			P -> L (in CMD1N).		adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGTACTGCCGCTGCCCATC	0.672000													6	17					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177138030	177138030	+	Silent	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr4:177138030C>T	ENST00000296525.3	-	6	914	c.801G>A	c.(799-801)ctG>ctA	p.L267L	ASB5_ENST00000512254.1_Silent_p.L214L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	267					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CTATAGGTCGCAGAAGCTCTG	0.368000													12	110					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33963911	33963911	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:33963911G>T	ENST00000382102.3	-	3	830	c.773C>A	c.(772-774)cCt>cAt	p.P258H	SLC45A2_ENST00000296589.4_Missense_Mutation_p.P258H|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.P199H	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	258					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGACAATGGAGGGTCCTGAGG	0.453000													24	135					2.89027e-11	3.74377e-11	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13823396	13823396	+	Silent	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:13823396T>C	ENST00000265104.4	-	40	6767	c.6663A>G	c.(6661-6663)gaA>gaG	p.E2221E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2221					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)					CTGCTTCCAGTTCAGGGTAAC	0.408000									Kartagener syndrome				20	136					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285017	152285017	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:152285017C>A	ENST00000368799.1	-	3	2380	c.2345G>T	c.(2344-2346)cGg>cTg	p.R782L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	782	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R782Q(2)		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)			TTCCCCTGACCGGTCACGTGC	0.567000									Ichthyosis				72	600					7.33394e-39	1.14149e-38	1	1	0
SACS	26278	broad.mit.edu	37	13	23905025	23905025	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr13:23905025C>A	ENST00000382298.3	-	10	13578	c.12990G>T	c.(12988-12990)agG>agT	p.R4330S	SACS_ENST00000402364.1_Missense_Mutation_p.R3580S|SACS_ENST00000382292.3_Missense_Mutation_p.R4330S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4330	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATACAACCGCCTAATAATCT	0.358000													31	176					6.02846e-25	9.01932e-25	1	1	0
DEPDC1	55635	broad.mit.edu	37	1	68948349	68948349	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:68948349T>A	ENST00000456315.2	-	8	1256	c.1142A>T	c.(1141-1143)cAg>cTg	p.Q381L	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	381					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTAACTAGCTGCATTTTCTT	0.338000													22	61					0	0	1	0	0
CD70	970	broad.mit.edu	37	19	6591001	6591001	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr19:6591001C>G	ENST00000245903.3	-	1	162	c.13G>C	c.(13-15)Ggt>Cgt	p.G5R	CD70_ENST00000423145.3_Missense_Mutation_p.G5R	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	5					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						CAGCCCGAACCCTCCTCCGGC	0.692000													4	44					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4310486	4310486	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr19:4310486C>A	ENST00000221856.6	+	6	530	c.383C>A	c.(382-384)cCt>cAt	p.P128H	FSD1_ENST00000597590.1_Missense_Mutation_p.P128H|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	128	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCATGGCCCCTGCCTTCCGG	0.632000													31	75					2.85442e-18	4.11121e-18	1	1	0
UBR3	130507	broad.mit.edu	37	2	170885859	170885859	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:170885859A>T	ENST00000272793.5	+	31	4507	c.4457A>T	c.(4456-4458)cAg>cTg	p.Q1486L	UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000418381.1_Missense_Mutation_p.Q1486L|UBR3_ENST00000392631.1_Missense_Mutation_p.Q307L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1486					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTTTCAGATCAGCTGTTTCAT	0.348000													20	33					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110758732	110758732	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr4:110758732G>T	ENST00000317735.4	+	5	725	c.691G>T	c.(691-693)Gac>Tac	p.D231Y		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	231					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCTCAACAGAGACTGGTCAGA	0.403000													8	34					0.0381472	0.0389546	1	1	0
THSD1	55901	broad.mit.edu	37	13	52952174	52952174	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr13:52952174T>C	ENST00000349258.4	-	4	2316	c.1772A>G	c.(1771-1773)cAt>cGt	p.H591R	THSD1_ENST00000258613.4_Missense_Mutation_p.H644R|THSD1_ENST00000544466.1_Missense_Mutation_p.H265R	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	644						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GTTCCTGGCATGGCTCCTTTC	0.627000													6	66					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103306336	103306336	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:103306336T>A	ENST00000520539.1	-	33	4802	c.4196A>T	c.(4195-4197)gAt>gTt	p.D1399V	UBR5_ENST00000220959.4_Missense_Mutation_p.D1399V|UBR5_ENST00000521922.1_Missense_Mutation_p.D1393V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1399					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)			TAGTAGAGTATCTAAAAGCTT	0.299000													10	58					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629605	1629605	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:1629605G>C	ENST00000399685.1	-	1	88	c.11C>G	c.(10-12)tCt>tGt	p.S4C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	4				S -> C (in Ref. 3; AAT09005).		keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGAGCAGCCAGAGCAGCCCAT	0.642000													70	149					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175052929	175052929	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:175052929G>C	ENST00000239462.4	+	5	1205	c.1092G>C	c.(1090-1092)gaG>gaC	p.E364D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	364	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.E364D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGAGACTGAGAACTCCCTTG	0.557000													10	55					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975906	32975906	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr6:32975906G>A	ENST00000229829.5	-	2	290	c.215C>T	c.(214-216)cCt>cTt	p.P72L	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.P42L	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	72	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						ACCAAACTCAGGCAGACGCCA	0.602000													7	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735953	13735953	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:13735953C>A	ENST00000265104.4	-	67	11648	c.11544G>T	c.(11542-11544)ctG>ctT	p.L3848L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3848					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)					CAAATAAGCCCAGAAACTGGC	0.448000									Kartagener syndrome				17	120					3.52763e-06	4.20267e-06	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7663255	7663255	+	Splice_Site	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:7663255G>A	ENST00000572933.1	+	17	4244	c.2785_splice	c.e17+1	p.V928_splice	DNAH2_ENST00000389173.2_Splice_Site_p.V928_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	928	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAACAGTTGTGGGTGAGTGGG	0.562000													36	217					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942931	6942931	+	Silent	SNP	T	T	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:6942931T>G	ENST00000317834.3	+	1	727	c.699T>G	c.(697-699)tcT>tcG	p.S233S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTTGGTTCTTATTGGAATA	0.478000													4	47					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10050266	10050266	+	RNA	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr3:10050266T>A	ENST00000383808.2	-	0	512																											TAGtggggggtgggttcagct	0.587000													9	16					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230371806	230371806	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:230371806G>T	ENST00000366672.4	+	4	493	c.421G>T	c.(421-423)Gtg>Ttg	p.V141L	GALNT2_ENST00000541865.1_Missense_Mutation_p.V51L|GALNT2_ENST00000543760.1_Missense_Mutation_p.V103L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	141	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CACCAGCGTGGTGATCACGTT	0.577000													8	29					5.18039e-06	6.09644e-06	1	1	0
ENTPD6	955	broad.mit.edu	37	20	25205927	25205927	+	Missense_Mutation	SNP	G	G	T	rs140620202		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr20:25205927G>T	ENST00000360031.2	+	14	1509	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C	ENTPD6_ENST00000376652.4_Missense_Mutation_p.G444C|ENTPD6_ENST00000354989.5_Missense_Mutation_p.G427C|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.R424L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	444						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCAGGAGTTCGGCTTTCCCAG	0.597000													5	23					0.014758	0.0153134	1	1	0
JADE2	23338	broad.mit.edu	37	5	133895545	133895545	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:133895545C>T	ENST00000395003.1	+	5	516	c.337C>T	c.(337-339)Cct>Tct	p.P113S	PHF15_ENST00000282605.4_Missense_Mutation_p.P113S|PHF15_ENST00000361895.2_Missense_Mutation_p.P113S|PHF15_ENST00000402835.1_Missense_Mutation_p.P113S	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		113					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAGGCCCCCCTGCCCAGGC	0.627000													12	32					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652539	69652539	+	Silent	SNP	A	A	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:69652539A>G	ENST00000435070.2	+	6	974	c.864A>G	c.(862-864)ccA>ccG	p.P288P	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.P215P|CPSF6_ENST00000266679.8_Silent_p.P325P	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	288	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCAGCCTCCATTGGGTCCAC	0.627000													16	130					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6262820	6262820	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr10:6262820G>T	ENST00000379775.4	+	8	1153	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	PFKFB3_ENST00000379789.4_Missense_Mutation_p.G255C|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Missense_Mutation_p.G275C|PFKFB3_ENST00000540253.1_Missense_Mutation_p.G289C|PFKFB3_ENST00000379782.3_Missense_Mutation_p.G275C|PFKFB3_ENST00000317350.4_Missense_Mutation_p.G275C|PFKFB3_ENST00000360521.2_Missense_Mutation_p.G275C	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	275	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GTCCAGCCGGGGCAAGAAGGT	0.677000													19	61					1.55795e-14	2.08808e-14	1	1	0
RYR3	6263	broad.mit.edu	37	15	33954955	33954955	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr15:33954955G>T	ENST00000389232.4	+	35	5294	c.5224G>T	c.(5224-5226)Gat>Tat	p.D1742Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D1742Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1742	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGATGATGATGTTCGGCA	0.552000													8	48					0.000157383	0.000177631	1	1	0
NAV2	89797	broad.mit.edu	37	11	19735320	19735320	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:19735320G>T	ENST00000396085.1	+	1	440	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.V27L|NAV2_ENST00000349880.4_Missense_Mutation_p.V27L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	27						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATCCTGCACGTgcccccggc	0.652000													3	19					0.115264	0.117084	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215752375	215752375	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:215752375A>T	ENST00000259154.4	+	7	724	c.430A>T	c.(430-432)Aga>Tga	p.R144*		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	144						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CAACACAGTCAGATCTGCTGA	0.373000													5	40					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963524	88963524	+	Silent	SNP	A	A	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr7:88963524A>C	ENST00000333190.4	+	4	1837	c.1228A>C	c.(1228-1230)Aga>Cga	p.R410R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	410						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATAGAGAACAGAGAAAAATC	0.368000										HNSCC(36;0.09)			18	46					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282954	152282954	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:152282954G>A	ENST00000368799.1	-	3	4443	c.4408C>T	c.(4408-4410)Cat>Tat	p.H1470Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1470	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1470N(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)			GCCTGCTCATGGCGGGATCCT	0.572000									Ichthyosis				89	416					0	0	1	0	0
TRAJ23	28732	broad.mit.edu	37	14	22989454	22989454	+	RNA	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr14:22989454C>A	ENST00000390514.1	+	0	61																											TCTGTGAAACCCAGTAAGTAT	0.403000													33	49					3.90053e-15	5.30142e-15	1	1	0
LBP	3929	broad.mit.edu	37	20	36979231	36979231	+	Missense_Mutation	SNP	G	G	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr20:36979231G>C	ENST00000217407.2	+	3	418	c.257G>C	c.(256-258)tGt>tCt	p.C86S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	86					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATCCACAGCTGTGAGCTGCTT	0.647000													5	56					0	0	1	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11254970	11254970	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:11254970G>A	ENST00000376819.3	+	5	1170	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	ANGPTL7_ENST00000476934.1_3'UTR|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	311	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CTACCGCCTGGGTGAGCACAA	0.522000													14	39					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666767	12666767	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:12666767A>T	ENST00000425538.1	+	14	2967	c.2767A>T	c.(2767-2769)Agc>Tgc	p.S923C	MYOCD_ENST00000343344.4_Missense_Mutation_p.S875C|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	875					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCTGTGGACAGCAATGGGCT	0.537000													10	47					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80553737	80553737	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:80553737C>A	ENST00000220876.7	+	3	622	c.240C>A	c.(238-240)tcC>tcA	p.S80S	STMN2_ENST00000518491.1_Silent_p.S69S|STMN2_ENST00000518111.1_Silent_p.S80S	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	80	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AAGACCTGTCCCTGGAGGAGA	0.502000													21	54					3.8784e-16	5.34666e-16	1	1	0
CHRNB3	1142	broad.mit.edu	37	8	42563858	42563858	+	Splice_Site	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:42563858A>T	ENST00000289957.2	+	2	180		c.e2-1		RP11-412B14.1_ENST00000527318.1_RNA|CHRNB3_ENST00000531610.1_Splice_Site	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)						synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATTCTTTTACAGCCACCACAG	0.517000													28	95					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87489353	87489353	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr10:87489353C>A	ENST00000327946.7	-	9	1337	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	GRID1_ENST00000536331.1_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	418						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AAGCCCTTCTCTGAGTCCCAT	0.537000										Multiple Myeloma(13;0.14)			19	44					6.33239e-15	8.54651e-15	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77473170	77473170	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr15:77473170C>A	ENST00000560626.2	-	4	1574	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W	PEAK1_ENST00000312493.4_Missense_Mutation_p.G367W|PEAK1_ENST00000558305.1_Missense_Mutation_p.G367W			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	367	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GATAATCCCCCATTACAAATC	0.408000													10	76					2.17888e-05	2.4883e-05	1	1	0
MIR758	768212	broad.mit.edu	37	14	101492380	101492380	+	RNA	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr14:101492380C>A	ENST00000390227.1	+	0	24					NR_030406.1																						AGATGGTTGACCAGAGAGCAC	0.527000													17	101					2.23348e-06	2.67741e-06	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21542977	21542977	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr14:21542977A>T	ENST00000298694.4	+	3	1215	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q363L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	363	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGAGGAGGCCAGGGGGCTGAA	0.632000													5	37					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61769402	61769402	+	Silent	SNP	A	A	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:61769402A>G	ENST00000423902.2	+	34	8042	c.7563A>G	c.(7561-7563)ggA>ggG	p.G2521G	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2521					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGTGGAGGGACTTGATCTGC	0.552000													35	86					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335118	7335118	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:7335118G>T	ENST00000318881.6	+	3	1227	c.990G>T	c.(988-990)ttG>ttT	p.L330F	SYT9_ENST00000396716.2_Missense_Mutation_p.L298F	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	330						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCCTAGACTTGGCTGATTTCC	0.478000													52	133					9.52127e-25	1.41354e-24	1	1	0
NSUN6	221078	broad.mit.edu	37	10	18874951	18874951	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr10:18874951C>A	ENST00000377304.4	-	8	1267	c.849G>T	c.(847-849)ggG>ggT	p.G283G		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	283							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGAATTCAGCCCTAACAATA	0.353000													9	72					2.17888e-05	2.4883e-05	1	1	0
REG3G	130120	broad.mit.edu	37	2	79253886	79253886	+	Nonsense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:79253886A>T	ENST00000272324.5	+	3	308	c.124A>T	c.(124-126)Aaa>Taa	p.K42*	REG3G_ENST00000409471.1_Nonsense_Mutation_p.K42*|REG3G_ENST00000393897.2_Nonsense_Mutation_p.K42*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	42					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGCTGTCCCAAAGGCTCCAA	0.532000													40	45					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113500348	113500348	+	Splice_Site	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:113500348T>A	ENST00000541405.1	-	7	1787		c.e7-2		NT5DC4_ENST00000327581.4_3'UTR|CKAP2L_ENST00000302450.6_Splice_Site			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTATTGGCTGGAAGGAAGG	0.294000													21	36					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70905944	70905944	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr16:70905944G>T	ENST00000393567.2	-	65	11237	c.11087C>A	c.(11086-11088)cCa>cAa	p.P3696Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3696										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTACCTGTGGGGAGAAAGC	0.438000													13	71					4.7546e-09	6.0371e-09	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55452989	55452989	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr19:55452989C>A	ENST00000446217.1	-	4	577	c.175G>T	c.(175-177)Gct>Tct	p.A59S	NLRP7_ENST00000340844.2_Missense_Mutation_p.A31S|NLRP7_ENST00000590030.1_Missense_Mutation_p.A31S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A31S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A31S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A31S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A31S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	31	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGGGAAAAGCCCATAAAAGG	0.507000													11	62					7.03913e-09	8.87942e-09	1	1	0
RNF10	9921	broad.mit.edu	37	12	120995377	120995377	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:120995377G>T	ENST00000325954.4	+	6	1320	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	RNF10_ENST00000413266.2_Missense_Mutation_p.V287F	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	287					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACATCAGTATGTTGTTGGTGA	0.448000													23	191					1.55469e-16	2.15868e-16	1	1	0
SLC44A4	80736	broad.mit.edu	37	6	31837024	31837024	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr6:31837024T>C	ENST00000544672.1	-	13	1209	c.913A>G	c.(913-915)Aca>Gca	p.T305A	SLC44A4_ENST00000229729.6_Missense_Mutation_p.T381A|SLC44A4_ENST00000375562.4_Missense_Mutation_p.T339A	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	381						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TGCCCCGATGTAGCCAGGTAC	0.552000													9	30					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025196	2025196	+	Missense_Mutation	SNP	G	G	A	rs147036287		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr16:2025196G>A	ENST00000568546.1	+	8	772	c.644G>A	c.(643-645)cGt>cAt	p.R215H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	215					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCTCCGGCCGTGACAAGATA	0.607000													9	134					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	19					5.18039e-06	6.09644e-06	1	1	0
C2orf78	388960	broad.mit.edu	37	2	74043390	74043390	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr2:74043390G>T	ENST00000409561.1	+	3	2161	c.2040G>T	c.(2038-2040)gaG>gaT	p.E680D		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	680										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCAACATGAGGGTAAAGGCC	0.507000													21	48					1.15919e-05	1.33966e-05	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766941	77766941	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:77766941G>A	ENST00000521891.2	+	10	8232	c.7784G>A	c.(7783-7785)gGa>gAa	p.G2595E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2569E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2550E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2550E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2550						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAAAGAAGGAGGGAATAGC	0.468000										HNSCC(33;0.089)			17	39					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72942915	72942915	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:72942915A>T	ENST00000328801.4	+	6	965	c.965A>T	c.(964-966)cAc>cTc	p.H322L		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	322						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GTGGCACCCCACATGGGTGCC	0.637000													28	161					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764983	77764983	+	Silent	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:77764983C>T	ENST00000521891.2	+	10	6274	c.5826C>T	c.(5824-5826)aaC>aaT	p.N1942N	ZFHX4_ENST00000518282.1_Silent_p.N1916N|ZFHX4_ENST00000050961.6_Silent_p.N1897N|ZFHX4_ENST00000455469.2_Silent_p.N1897N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1897						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGGCGAAAACACTGACAAAC	0.373000										HNSCC(33;0.089)			16	78					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139165567	139165567	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr6:139165567G>A	ENST00000423192.1	+	6	775	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	ECT2L_ENST00000367682.2_Missense_Mutation_p.R205Q|ECT2L_ENST00000541398.1_Missense_Mutation_p.R136Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	205					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTCAAAGTTCGACCCCCTTGG	0.493000			"""N, Splice, Mis"""		ETP ALL								10	57					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767912	77767912	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:77767912T>A	ENST00000521891.2	+	10	9203	c.8755T>A	c.(8755-8757)Ttt>Att	p.F2919I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.F2893I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F2874I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F2874I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2874						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAATCCCTTTAAATCCAA	0.502000										HNSCC(33;0.089)			23	54					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100512481	100512481	+	Silent	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr4:100512481G>T	ENST00000457717.1	+	6	847	c.591G>T	c.(589-591)gcG>gcT	p.A197A	MTTP_ENST00000265517.5_Silent_p.A197A|MTTP_ENST00000511045.1_Silent_p.A224A	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	197	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GCAAAATAGCGAGGTCTGGAT	0.338000													9	73					0.000274275	0.000305983	1	1	0
DDX47	51202	broad.mit.edu	37	12	12976218	12976218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr12:12976218C>T	ENST00000358007.3	+	7	737	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Nonsense_Mutation_p.Q239*	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	239	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGAAAAATTACAGCAATATTA	0.368000													5	82					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55405996	55405996	+	Missense_Mutation	SNP	C	C	A	rs149082190	byFrequency	TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:55405996C>A	ENST00000314612.2	+	1	163	c.163C>A	c.(163-165)Caa>Aaa	p.Q55K		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q55*(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCTCATTCACCAACCCATGTA	0.403000													64	138					5.80444e-35	8.96205e-35	1	1	0
CHD5	26038	broad.mit.edu	37	1	6194862	6194862	+	Silent	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:6194862G>T	ENST00000262450.3	-	19	3027	c.2928C>A	c.(2926-2928)ggC>ggA	p.G976G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	976					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.G976G(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTGGTTCCCGCCCCCCTTGG	0.582000													52	137					5.12918e-33	7.79473e-33	1	1	0
TSNARE1	203062	broad.mit.edu	37	8	143381910	143381910	+	Silent	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:143381910C>T	ENST00000519651.1	-	8	673	c.570G>A	c.(568-570)ccG>ccA	p.P190P	TSNARE1_ENST00000524325.1_Silent_p.P408P|TSNARE1_ENST00000307180.3_Silent_p.P409P|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Silent_p.P409P			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	409					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGTGATGTCCGGGAGCAGCG	0.632000													7	80					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329558	20329558	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr16:20329558G>T	ENST00000302555.5	-	7	1351	c.1202C>A	c.(1201-1203)aCc>aAc	p.T401N	GP2_ENST00000341642.5_Missense_Mutation_p.T254N|GP2_ENST00000381360.5_Missense_Mutation_p.T257N|GP2_ENST00000381362.4_Missense_Mutation_p.T404N			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	404	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCAGTGGGGGTGGCATAGCA	0.478000													43	109					1.62957e-23	2.40082e-23	1	1	0
SLC2A4	6517	broad.mit.edu	37	17	7187978	7187978	+	Missense_Mutation	SNP	C	C	G			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:7187978C>G	ENST00000317370.8	+	7	1170	c.902C>G	c.(901-903)tCt>tGt	p.S301C	SLC2A4_ENST00000571308.1_Missense_Mutation_p.S301C|SLC2A4_ENST00000424875.2_Missense_Mutation_p.S291C	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	301					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CAGCAGCTCTCTGGCATCAAT	0.662000													6	60					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19555090	19555090	+	Splice_Site	SNP	A	A	G	rs140100036		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:19555090A>G	ENST00000176643.6	+	2	830	c.385_splice	c.e2+1	p.A128_splice	ALDH3A2_ENST00000339618.4_Splice_Site_p.A128_splice|ALDH3A2_ENST00000395575.2_Splice_Site_p.A128_splice|ALDH3A2_ENST00000579855.1_Splice_Site_p.A128_splice|ALDH3A2_ENST00000581518.1_Splice_Site_p.A128_splice			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	128					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CCATCGCTGCAGGTCTGGTGC	0.428000													11	116					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767911	77767911	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:77767911C>A	ENST00000521891.2	+	10	9202	c.8754C>A	c.(8752-8754)ccC>ccA	p.P2918P	ZFHX4_ENST00000518282.1_Silent_p.P2892P|ZFHX4_ENST00000050961.6_Silent_p.P2873P|ZFHX4_ENST00000455469.2_Silent_p.P2873P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGCAATCCCTTTAAATCCA	0.502000										HNSCC(33;0.089)			21	53					0.000175454	0.000196876	1	1	0
SIRPA	140885	broad.mit.edu	37	20	1902216	1902216	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr20:1902216C>A	ENST00000358771.4	+	3	764	c.612C>A	c.(610-612)agC>agA	p.S204R	SIRPA_ENST00000356025.3_Missense_Mutation_p.S204R|SIRPA_ENST00000400068.3_Missense_Mutation_p.S204R	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	204	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TAGGAGAGAGCGTGTCCTACA	0.577000													29	111					1.50538e-07	1.83885e-07	1	1	0
COL25A1	84570	broad.mit.edu	37	4	109861739	109861739	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr4:109861739C>A	ENST00000399132.1	-	10	1158	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	COL25A1_ENST00000399126.1_Missense_Mutation_p.G210W|COL25A1_ENST00000399127.1_Missense_Mutation_p.G206W	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	210	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTGTGTCCCCAGGTGGCCCT	0.577000													18	72					1.33834e-09	1.71059e-09	1	1	0
PNN	5411	broad.mit.edu	37	14	39645282	39645282	+	Splice_Site	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr14:39645282G>A	ENST00000216832.4	+	2	181	c.113_splice	c.e2-1	p.R38_splice	PNN_ENST00000553331.1_Splice_Site_p.R38_splice|PNN_ENST00000556530.1_Splice_Site_p.R38_splice	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	38	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TCTTTTACAGGCCCATCCAAG	0.423000													72	40					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166137	42166137	+	Missense_Mutation	SNP	T	T	C			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr15:42166137T>C	ENST00000320955.6	-	25	5023	c.4796A>G	c.(4795-4797)gAg>gGg	p.E1599G		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1599					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGGCACTGCTCCACGATGTG	0.642000													6	41					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755661	10755661	+	Missense_Mutation	SNP	C	C	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:10755661C>T	ENST00000416569.2	-	3	1753	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H	XKR6_ENST00000304437.2_Missense_Mutation_p.R297H	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	576						integral to membrane		p.R576H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GAGGTAAGGACGCCCCAACGG	0.557000													5	68					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235599077	235599077	+	Missense_Mutation	SNP	A	A	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:235599077A>T	ENST00000543662.1	+	10	1014	c.908A>T	c.(907-909)cAg>cTg	p.Q303L	TBCE_ENST00000366601.3_Missense_Mutation_p.Q252L|TBCE_ENST00000406207.1_Missense_Mutation_p.Q252L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	252					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GATGTTCTCCAGACAGTCAAG	0.368000													49	174					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248362	3248362	+	Missense_Mutation	SNP	G	G	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chrX:3248362G>A	ENST00000217939.6	-	4	560	c.406C>T	c.(406-408)Cac>Tac	p.H136Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	136						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTTGTTGTGGTCAATGTGC	0.498000													9	27					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816020	82816020	+	Missense_Mutation	SNP	C	C	A	rs143729093	byFrequency	TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr5:82816020C>A	ENST00000265077.3	+	7	2460	c.1895C>A	c.(1894-1896)aCg>aAg	p.T632K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T632K|VCAN_ENST00000512590.2_Missense_Mutation_p.T584K|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	632	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTAGGATAACGGAAGAGTTT	0.378000													43	179					1.15505e-17	1.63915e-17	1	1	0
LUZP2	338645	broad.mit.edu	37	11	24998151	24998151	+	Silent	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:24998151T>A	ENST00000533227.1	+	8	566	c.279T>A	c.(277-279)acT>acA	p.T93T	LUZP2_ENST00000336930.6_Silent_p.T179T	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	179						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGCAGCTTACTGATCTGGAAC	0.363000													18	35					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51019954	51019954	+	Missense_Mutation	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr22:51019954C>A	ENST00000406938.2	-	4	693	c.476G>T	c.(475-477)cGa>cTa	p.R159L	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	159					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CACTGGCTCTCGAAGCTCTTG	0.577000													4	45					0.00909568	0.00959271	1	1	0
AOC1	26	broad.mit.edu	37	7	150558107	150558107	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr7:150558107G>T	ENST00000493429.1	+	7	2650	c.2066G>T	c.(2065-2067)gGg>gTg	p.G689V	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.G689V|AOC1_ENST00000416793.2_Missense_Mutation_p.G708V|AOC1_ENST00000467291.1_Missense_Mutation_p.G689V					amine oxidase, copper containing 1																		GCCACACCTGGGAACTCCGTG	0.627000													22	44					1.87028e-06	2.25603e-06	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885201	88885201	+	Silent	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:88885201G>T	ENST00000319675.3	-	1	1095	c.999C>A	c.(997-999)ggC>ggA	p.G333G		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	333										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGCAGTCCTGGCCCACGGCCG	0.572000													38	88					6.70999e-13	8.93122e-13	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751686	26751686	+	Missense_Mutation	SNP	T	T	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr3:26751686T>A	ENST00000396641.2	+	2	1115	c.523T>A	c.(523-525)Tcc>Acc	p.S175T	LRRC3B_ENST00000417744.1_Missense_Mutation_p.S175T|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S175T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	175	LRRCT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CTGTAAAACGTCCGTGTTGGA	0.498000													12	26					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900904	51900904	+	Silent	SNP	C	C	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:51900904C>A	ENST00000268919.4	+	1	666	c.510C>A	c.(508-510)atC>atA	p.I170I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	170					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCAGGAGATCCGAGCTAGAC	0.537000													10	89					3.86212e-05	4.38464e-05	1	1	0
GAA	2548	broad.mit.edu	37	17	78079567	78079567	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:78079567G>T	ENST00000302262.3	+	3	785	c.566G>T	c.(565-567)aGg>aTg	p.R189M	GAA_ENST00000390015.3_Missense_Mutation_p.R189M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	189					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCAGCTAACAGGCGCTACGAG	0.587000													5	57					1.12685e-05	1.31013e-05	1	1	0
MYH2	4620	broad.mit.edu	37	17	10439905	10439905	+	Missense_Mutation	SNP	G	G	T			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr17:10439905G>T	ENST00000245503.5	-	17	2300	c.1916C>A	c.(1915-1917)gCc>gAc	p.A639D	MYH2_ENST00000532183.1_Missense_Mutation_p.A639D|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A639D|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	639	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTTCTTGGCCCCTCCACC	0.428000													5	40					0.248553	0.251155	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178411986	178411986	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr1:178411986delC	ENST00000448150.3	+	8	1868	c.1050delC	c.(1048-1050)agfs	p.S350fs	RASAL2_ENST00000462775.1_Frame_Shift_Del_p.S220fs|RASAL2_ENST00000367649.3_Frame_Shift_Del_p.S368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	220	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AATTCTTCAGCCTTCCACCTC	0.398													36	144	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG	rs144810212	by1000genomes	TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1																						TTGGGGAAAGACTTTATCCAGG	0.436													4	2	---	---	---	---					
TRBV5-6	28609	broad.mit.edu	37	7	142131738	142131739	+	RNA	INS	-	-	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr7:142131738_142131739insA	ENST00000390375.2	-	0	90																											ATGAGCACAGGGACAGCCTGGA	0.579													7	85	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10465409	10465409	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:10465409delC	ENST00000382483.3	-	4	6422	c.6199delG	c.(6199-6201)ctfs	p.A2067fs		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2067					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)		TCCCCTTCAGCCTCCTGTGCC	0.632													7	383	---	---	---	---					
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:38285914_38285916delTCA	ENST00000447712.2	-	4	1337_1339	c.396_398delTGA	c.(394-399)gac>ga	p.DD132del	FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000341462.5_In_Frame_Del_p.DD135del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						7	57	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43216289	43216290	+	RNA	INS	-	-	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:43216289_43216290insA	ENST00000522175.2	+	0	1542_1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGAAGTGGCCGAAAAAAAAATG	0.282													2	4	---	---	---	---					
DSCC1	79075	broad.mit.edu	37	8	120865345	120865345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr8:120865345delC	ENST00000313655.4	-	2	507	c.293delG	c.(292-294)ttfs	p.C98fs		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	98					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGGAGTTTTACAACCAGGAAT	0.398													38	81	---	---	---	---					
PAOX	196743	broad.mit.edu	37	10	135203109	135203110	+	Frame_Shift_Ins	INS	-	-	CA	rs143081327		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr10:135203109_135203110insCA	ENST00000278060.5	+	6	1333_1334	c.1250_1251insCA	c.(1249-1251)cgcfs	p.R417fs	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	555					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CCACGGCTCCCCGCGCCCAAGA	0.594													18	74	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108205764	108205766	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr11:108205764_108205766delAGG	ENST00000278616.4	+	55	8464_8466	c.8079_8081delAGG	c.(8077-8082)gca>gc	p.AG2693del	ATM_ENST00000452508.2_In_Frame_Del_p.AG2693del|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2693					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2695delG(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCGCTTAGCAGGAGGTGTAAAT	0.399			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			27	55	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													5	7	---	---	---	---					
WBP11P1	441818	broad.mit.edu	37	18	30091692	30091693	+	RNA	INS	-	-	A			TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr18:30091692_30091693insA	ENST00000567636.1	+	0	67_68					NR_003558.1																						TGAAGGCCCTTACAAAGTGAAA	0.495													6	11	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs34890218		TCGA-95-A4VP-01A-21D-A25L-08	TCGA-95-A4VP-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ED1E59A5-4626-4DF2-93EC-F2C42029DB0C	9C028E15-3FEC-4A06-91A1-B82D98C919DB	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)cca>cGCAca	p.533_533P>RT		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""								4	2	---	---	---	---					
