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
COL16A1	1307	broad.mit.edu	37	1	32145269	32145269	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:32145269G>T	ENST00000373672.3	-	42	3252	c.2736C>A	c.(2734-2736)ccC>ccA	p.P912P	COL16A1_ENST00000271069.6_Silent_p.P911P|COL16A1_ENST00000373668.3_Silent_p.P896P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	912	Triple-helical region 4 (COL4) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.P912P(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGTGGTCCGGGAATACCTG	0.617000													7	116					5.18039e-06	6.46479e-06	0.003080	1	0
TULP1	7287	broad.mit.edu	37	6	35466187	35466187	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:35466187G>T	ENST00000229771.6	-	15	1625	c.1546C>A	c.(1546-1548)Cta>Ata	p.L516I	TULP1_ENST00000322263.4_Missense_Mutation_p.L463I	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	516					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	p.L516I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGTAGTCTAGGGTGAAGGCG	0.677000													4	26					0.00116845	0.00130693	0.001168	1	0
EPDR1	54749	broad.mit.edu	37	7	37988642	37988642	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:37988642C>G	ENST00000199448.4	+	2	849	c.470C>G	c.(469-471)gCt>gGt	p.A157G	EPDR1_ENST00000559325.1_Missense_Mutation_p.A277G|EPDR1_ENST00000425345.1_Missense_Mutation_p.A96G|EPDR1_ENST00000476620.1_Missense_Mutation_p.A55G|EPDR1_ENST00000423717.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	157					cell-matrix adhesion	extracellular region	calcium ion binding	p.A277G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGAAAGTCAGCTAGATCCTGT	0.463000													20	33					0	0	0.007413	0	0
GABRA6	2559	broad.mit.edu	37	5	161116336	161116336	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:161116336G>C	ENST00000523217.1	+	5	735	c.493G>C	c.(493-495)Ggg>Cgg	p.G165R	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.G175R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	175					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.G175R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCAAGTTTGGGAGCTGTAA	0.383000										TCGA Ovarian(5;0.080)			15	71					0	0	0.003163	0	0
DMWD	1762	broad.mit.edu	37	19	46289666	46289666	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:46289666C>G	ENST00000270223.6	-	3	1133	c.1088G>C	c.(1087-1089)cGa>cCa	p.R363P	DMWD_ENST00000377735.3_Missense_Mutation_p.R363P	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	363					meiosis			p.R363P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCATGGCCTCGAGCCACCAC	0.667000													14	56					0	0	0.004990	0	0
QPCTL	54814	broad.mit.edu	37	19	46196733	46196733	+	Silent	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:46196733A>T	ENST00000012049.5	+	2	491	c.270A>T	c.(268-270)ccA>ccT	p.P90P	QPCTL_ENST00000366382.4_Silent_p.P90P	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	90					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	p.P90P(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AACTGGATCCACAGCGTCTCT	0.607000											OREG0025560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	92					0	0	0.006122	0	0
FCGBP	8857	broad.mit.edu	37	19	40368760	40368760	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:40368760G>C	ENST00000221347.6	-	28	12595	c.12588C>G	c.(12586-12588)gaC>gaG	p.D4196E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4196	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGTTCCAGTCATAGCTGA	0.612000													4	141					0	0	0.001984	0	0
CACNA1E	777	broad.mit.edu	37	1	181753820	181753820	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:181753820G>T	ENST00000526775.1	+	40	5602	c.5437G>T	c.(5437-5439)Gac>Tac	p.D1813Y	CACNA1E_ENST00000367567.4_Missense_Mutation_p.D1439Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1764Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1832Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1783Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1832Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1813Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1832					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1832Y(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCAGCTAGACTCAGAGCT	0.483000													3	6					0.004672	0.00511212	0.004672	1	0
TTC40	54777	broad.mit.edu	37	10	134660763	134660763	+	Silent	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:134660763T>A	ENST00000368586.5	-	42	6115	c.6015A>T	c.(6013-6015)acA>acT	p.T2005T	TTC40_ENST00000263170.5_Silent_p.T166T	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	166								p.T166T(1)|p.T2005T(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGCTGGACTTTGTGGCACCCT	0.657000													23	61					0	0	0.018920	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984897	90984897	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr15:90984897T>C	ENST00000268182.5	+	8	933	c.809T>C	c.(808-810)aTg>aCg	p.M270T	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	270					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.M270T(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAGGACAAAATGACAAATGCT	0.348000													8	41					0	0	0.003080	0	0
OPRL1	4987	broad.mit.edu	37	20	62729693	62729693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr20:62729693C>A	ENST00000349451.3	+	6	1066	c.654C>A	c.(652-654)tgC>tgA	p.C218*	OPRL1_ENST00000355631.4_Nonsense_Mutation_p.C218*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.C218*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	218					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.C218*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCATCTGCATCTTCCTCT	0.622000													37	48					1.04352e-10	1.50068e-10	0.017118	1	0
BEST3	144453	broad.mit.edu	37	12	70048953	70048953	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:70048953C>G	ENST00000330891.5	-	10	1967	c.1741G>C	c.(1741-1743)Gac>Cac	p.D581H	BEST3_ENST00000553096.1_Missense_Mutation_p.D475H|BEST3_ENST00000488961.1_Missense_Mutation_p.D368H|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	581						chloride channel complex|plasma membrane	chloride channel activity	p.D581H(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCACCAGGGTCTTCTTCACAG	0.532000													3	36					0	0	0.004672	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615910	140615910	+	RNA	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:140615910A>G	ENST00000526308.1	+	0	1973					NR_001281.1													p.D542G(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTGGACGGCGACTCGGGCCAG	0.721000													13	33					0	0	0.016723	0	0
ANK2	287	broad.mit.edu	37	4	114278606	114278606	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr4:114278606C>A	ENST00000357077.4	+	38	8885	c.8832C>A	c.(8830-8832)acC>acA	p.T2944T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.T2911T|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2911					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T2944T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAGCAAAACCCAAACAGATG	0.408000													72	155					5.89852e-23	9.62893e-23	0.014410	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926814	130926814	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:130926814G>A	ENST00000261655.4	-	8	1195	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	RIMBP2_ENST00000535703.1_Silent_p.L252L|RIMBP2_ENST00000536002.1_Silent_p.L252L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	344	Fibronectin type-III 1.					cell junction|synapse		p.L344L(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCCCAGCGTGAGGTTCATGC	0.612000													10	76					0	0	0.008291	0	0
KLHL6	89857	broad.mit.edu	37	3	183273319	183273319	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:183273319G>T	ENST00000341319.3	-	1	158	c.123C>A	c.(121-123)atC>atA	p.I41I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	41								p.I41I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCCCATTTAAGATCTCGACCA	0.517000													11	159					2.27111e-07	2.96916e-07	0.013537	1	0
PCDH19	57526	broad.mit.edu	37	X	99663168	99663168	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:99663168C>A	ENST00000373034.4	-	1	2103	c.428G>T	c.(427-429)aGc>aTc	p.S143I	PCDH19_ENST00000255531.7_Missense_Mutation_p.S143I|PCDH19_ENST00000420881.2_Missense_Mutation_p.S143I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	143	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S143I(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGTGCCAGGGCTGGCTGCCTC	0.592000													5	78					8.12818e-05	9.77973e-05	0.001984	1	0
TEX101	83639	broad.mit.edu	37	19	43920644	43920644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:43920644G>C	ENST00000602198.1	+	6	824	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TEX101_ENST00000253435.7_Missense_Mutation_p.E128Q|TEX101_ENST00000598265.1_Missense_Mutation_p.E110Q|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	110						anchored to membrane|plasma membrane		p.E128Q(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TAACTACTGTGAGGATTCCTT	0.527000													10	279					0	0	0.013537	0	0
RAPH1	65059	broad.mit.edu	37	2	204309641	204309641	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:204309641C>T	ENST00000319170.5	-	13	2025	c.1726G>A	c.(1726-1728)Gta>Ata	p.V576I	RAPH1_ENST00000423104.1_Missense_Mutation_p.V603I|RAPH1_ENST00000374488.2_Missense_Mutation_p.V601I|RAPH1_ENST00000419464.1_Missense_Mutation_p.V576I|RAPH1_ENST00000374489.2_Missense_Mutation_p.V603I|RAPH1_ENST00000374493.3_Missense_Mutation_p.V628I|RAPH1_ENST00000308091.4_Missense_Mutation_p.V628I|RAPH1_ENST00000439222.1_Missense_Mutation_p.V601I|RAPH1_ENST00000457812.1_Missense_Mutation_p.V576I|RAPH1_ENST00000418114.1_Missense_Mutation_p.V576I|RAPH1_ENST00000453034.1_Missense_Mutation_p.V628I	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	576					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCAGAGAATACGGAGCTCACA	0.463000													4	104					0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	44					1.96292e-10	2.78311e-10	0.010504	1	0
DISP2	85455	broad.mit.edu	37	15	40660665	40660665	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr15:40660665C>A	ENST00000267889.3	+	8	2439	c.2352C>A	c.(2350-2352)ggC>ggA	p.G784G		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	784					smoothened signaling pathway	integral to membrane		p.G784G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGACACTGGCGACCCTCTGG	0.682000													13	58					0.000151284	0.000180585	0.016723	1	0
FSCB	84075	broad.mit.edu	37	14	44973895	44973895	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr14:44973895C>A	ENST00000340446.4	-	1	2587	c.2296G>T	c.(2296-2298)Gca>Tca	p.A766S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	766						cilium		p.A766S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAATTCCTGCCACCTGCGGT	0.423000													43	107					9.82405e-12	1.44725e-11	0.014410	1	0
SIRPD	128646	broad.mit.edu	37	20	1517840	1517840	+	Missense_Mutation	SNP	C	C	T	rs143061754		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr20:1517840C>T	ENST00000381623.3	-	3	1727	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	SIRPD_ENST00000381621.1_Missense_Mutation_p.V181I			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	180						extracellular region		p.V180I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGGTTGGACGAAATAGTTT	0.612000													4	82					0	0	0.009096	0	0
IRS4	8471	broad.mit.edu	37	X	107978288	107978288	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:107978288C>A	ENST00000372129.2	-	1	1363	c.1287G>T	c.(1285-1287)ccG>ccT	p.P429P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	429						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.P429P(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAAGCTGGCCGGCACTGAAA	0.637000													10	70					1.76689e-08	2.38215e-08	0.006214	1	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													4	202					0	0	0.014758	0	0
VWA3B	200403	broad.mit.edu	37	2	98744867	98744867	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:98744867A>C	ENST00000477737.1	+	6	1072	c.868A>C	c.(868-870)Agc>Cgc	p.S290R	VWA3B_ENST00000451075.2_Missense_Mutation_p.S140R|VWA3B_ENST00000435344.1_Missense_Mutation_p.S290R	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	290								p.S290R(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAGACCCACAGCAGGTAGGC	0.517000													12	50					0	0	0.016723	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008863	142008863	+	RNA	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:142008863C>G	ENST00000390387.3	+	0	383																											TCTGTGCCAGCAGCCAAGACA	0.537000													9	55					0	0	0.004482	0	0
ZZEF1	23140	broad.mit.edu	37	17	3984731	3984731	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:3984731T>C	ENST00000381638.2	-	18	2892	c.2768A>G	c.(2767-2769)aAg>aGg	p.K923R	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	923							calcium ion binding|zinc ion binding	p.K923R(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATGTTCATCTTGGCCAGGTC	0.498000													28	44					0	0	0.007291	0	0
TNR	7143	broad.mit.edu	37	1	175362997	175362997	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:175362997C>T	ENST00000367674.1	-	6	1983	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	TNR_ENST00000263525.2_Silent_p.T425T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	425	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T425T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCTGTGATCGTCTTAAATT	0.498000													16	200					0	0	0.004007	0	0
OR2M3	127062	broad.mit.edu	37	1	248366864	248366864	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:248366864C>T	ENST00000456743.1	+	1	533	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165S(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			CAACATTTTCCTTCTCCTACT	0.438000													17	325					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141214102	141214102	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:141214102G>T	ENST00000389484.3	-	62	10856	c.9885C>A	c.(9883-9885)acC>acA	p.T3295T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3295					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T3295T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAAGTGTGGGTTTTTCCAG	0.438000										TSP Lung(27;0.18)			11	53					1.08611e-07	1.43233e-07	0.010729	1	0
GABRQ	55879	broad.mit.edu	37	X	151821552	151821552	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:151821552C>A	ENST00000370306.2	+	9	1727	c.1707C>A	c.(1705-1707)ggC>ggA	p.G569G		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	569						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.G569G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCCATGGCCAAGAGAAGG	0.498000													6	48					0.00116845	0.00130693	0.001168	1	0
CSMD2	114784	broad.mit.edu	37	1	34209109	34209109	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:34209109G>A	ENST00000373381.4	-	14	2121	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	609	CUB 4.					integral to membrane|plasma membrane	protein binding	p.L609L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCCTGGCCAGGATGAGCCAG	0.587000													13	52					0	0	0.016723	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179301942	179301942	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:179301942C>T	ENST00000356834.3	-	12	2183	c.2146G>A	c.(2146-2148)Ggc>Agc	p.G716S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.G716S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	716						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	p.G716S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGCTGCAGCCCAGCAGCTGC	0.647000													6	43					0	0	0.001168	0	0
FSCB	84075	broad.mit.edu	37	14	44973896	44973896	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr14:44973896C>A	ENST00000340446.4	-	1	2586	c.2295G>T	c.(2293-2295)gtG>gtT	p.V765V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	765						cilium		p.A766S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAATTCCTGCCACCTGCGGTG	0.428000													42	107					6.87076e-12	1.01714e-11	0.014410	1	0
SMC2	10592	broad.mit.edu	37	9	106901541	106901541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr9:106901541C>T	ENST00000286398.7	+	25	3827	c.3539C>T	c.(3538-3540)tCa>tTa	p.S1180L	SMC2_ENST00000374793.3_Missense_Mutation_p.S1180L|SMC2_ENST00000374787.3_Missense_Mutation_p.S1180L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1180					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAAAGATTTCAAAGGAAGCA	0.348000													7	42					0	0	0.003080	0	0
LAMB4	22798	broad.mit.edu	37	7	107692568	107692568	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:107692568G>T	ENST00000388781.3	-	26	3973	c.3890C>A	c.(3889-3891)tCc>tAc	p.S1297Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.S1297Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.S1297Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1297	Domain II.				cell adhesion	basement membrane		p.S1297Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAGGACACTGGATTGCAAATC	0.378000													38	149					6.5261e-18	1.01592e-17	0.008740	1	0
KRT82	3888	broad.mit.edu	37	12	52797658	52797658	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:52797658C>T	ENST00000257974.2	-	2	524	c.447G>A	c.(445-447)gaG>gaA	p.E149E		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	149	Coil 1A.|Rod.					keratin filament	protein binding|structural constituent of epidermis	p.E149E(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCCACTTGGTCTCCAGCAGCT	0.567000													4	28					0	0	0.009096	0	0
VGLL1	51442	broad.mit.edu	37	X	135631167	135631167	+	Splice_Site	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:135631167T>A	ENST00000370634.3	+	3	804	c.634_splice	c.e3+1	p.Y212_splice		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.Y212N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTCAGTTCACTGTAAGGAAAT	0.547000													5	47					0	0	0.001168	0	0
POF1B	79983	broad.mit.edu	37	X	84600895	84600895	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:84600895G>T	ENST00000262753.4	-	6	839	c.694C>A	c.(694-696)Cat>Aat	p.H232N	POF1B_ENST00000373145.3_Missense_Mutation_p.H232N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	232							actin binding	p.H232N(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GATCCACTATGGCACAGTTCA	0.408000													9	127					1.11149e-13	1.6953e-13	0.008291	1	0
MOGAT2	80168	broad.mit.edu	37	11	75431194	75431194	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:75431194G>T	ENST00000198801.5	+	2	319	c.249G>T	c.(247-249)atG>atT	p.M83I	MOGAT2_ENST00000526712.1_Start_Codon_SNP_p.M1I	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	83					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.M83I(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGAAGTACATGAAGGACTATT	0.602000													7	187					0.000157383	0.000184941	0.003080	1	0
TDG	6996	broad.mit.edu	37	12	104373742	104373742	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:104373742C>T	ENST00000392872.3	+	3	534	c.300C>T	c.(298-300)gaC>gaT	p.D100D	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Silent_p.D96D|TDG_ENST00000542036.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	100					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.D100D(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAATTACAGACACATTTAAAG	0.358000								Base excision repair (BER), DNA glycosylases					4	61					0	0	0.014758	0	0
GPR141	353345	broad.mit.edu	37	7	37780032	37780032	+	Missense_Mutation	SNP	G	G	T	rs141399721	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:37780032G>T	ENST00000447769.1	+	4	326	c.37G>T	c.(37-39)Gat>Tat	p.D13Y	GPR141_ENST00000334425.1_Missense_Mutation_p.D13Y|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	13						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D13Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCCTCTTGCGATCCTATAGT	0.468000													50	246					1.19403e-26	1.97048e-26	0.014410	1	0
WDR3	10885	broad.mit.edu	37	1	118494942	118494942	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:118494942C>T	ENST00000349139.4	+	18	1974	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	643						nuclear membrane|nucleolus		p.P643S(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACAGTTTGTACCCAAGTCTCA	0.363000													16	78					0	0	0.004990	0	0
NELL2	4753	broad.mit.edu	37	12	45059372	45059372	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:45059372C>A	ENST00000429094.2	-	13	1843	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	NELL2_ENST00000551601.1_Missense_Mutation_p.G446W|NELL2_ENST00000437801.2_Missense_Mutation_p.G497W|NELL2_ENST00000395487.2_Missense_Mutation_p.G446W|NELL2_ENST00000549027.1_Missense_Mutation_p.G446W|NELL2_ENST00000452445.2_Missense_Mutation_p.G447W|NELL2_ENST00000333837.4_Missense_Mutation_p.G470W	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	447	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G447W(1)|p.G497W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TAATGGCGCCCTTCAGCACAC	0.418000													8	43					2.17888e-05	2.66405e-05	0.006214	1	0
PREP	5550	broad.mit.edu	37	6	105781267	105781267	+	Missense_Mutation	SNP	C	C	A	rs144257084		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:105781267C>A	ENST00000369110.3	-	8	1129	c.937G>T	c.(937-939)Gtg>Ttg	p.V313L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	313					proteolysis		serine-type endopeptidase activity	p.V313L(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATGTTGATCACGCGATAGTTG	0.443000													4	87					0.00909568	0.00970634	0.009096	1	0
PHF20	51230	broad.mit.edu	37	20	34519298	34519298	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr20:34519298G>C	ENST00000374012.3	+	15	2361	c.2232G>C	c.(2230-2232)caG>caC	p.Q744H	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	744					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.Q744H(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCACCCACCAGCTTCTTGGTG	0.527000													65	45					0	0	0.014410	0	0
ZNF720	124411	broad.mit.edu	37	16	31734594	31734594	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:31734594A>T	ENST00000316491.9	+	3	345	c.146A>T	c.(145-147)aAg>aTg	p.K49M	ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000531864.2_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	49	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.K49M(1)		endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GCTGTCTCTAAGCCGGACCTG	0.468000													7	24					0	0	0.004482	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	61					0	0	0.001168	0	0
GZMA	3001	broad.mit.edu	37	5	54404187	54404187	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:54404187G>T	ENST00000274306.6	+	4	627	c.592G>T	c.(592-594)Gct>Tct	p.A198S		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	198	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.A198S(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TATGGTTTGTGCTGGAAGCCT	0.378000													7	67					0.000274275	0.00031736	0.004482	1	0
PLA2R1	22925	broad.mit.edu	37	2	160832630	160832630	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:160832630G>A	ENST00000283243.7	-	17	2750	c.2544C>T	c.(2542-2544)ctC>ctT	p.L848L	PLA2R1_ENST00000392771.1_Silent_p.L848L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	848	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.L848L(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AATGAATTGTGAGAAGATCAC	0.403000													26	81					0	0	0.006320	0	0
ESX1	80712	broad.mit.edu	37	X	103495442	103495442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:103495442C>T	ENST00000372588.4	-	4	771	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	230					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D230N(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AAAGCAGGATCCAGAGCAGGA	0.552000													11	124					0	0	0.010729	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55603623	55603623	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:55603623C>A	ENST00000263433.3	-	19	2142	c.2127G>T	c.(2125-2127)gcG>gcT	p.A709A	PPP1R12C_ENST00000376393.2_Silent_p.A646A|PPP1R12C_ENST00000435544.2_Silent_p.A634A	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	709						cytoplasm		p.A709A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTTGAGCTGCGCCAGCCGCA	0.697000													3	7					0.004672	0.00511212	0.004672	1	0
UNC5D	137970	broad.mit.edu	37	8	35624454	35624454	+	Missense_Mutation	SNP	G	G	A	rs112851152		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:35624454G>A	ENST00000287272.2	+	14	2161	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	UNC5D_ENST00000449677.1_Missense_Mutation_p.R359Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R783Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R788Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.R778Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R716Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	783	Interaction with DCC (By similarity).				apoptosis|axon guidance	integral to membrane	receptor activity	p.R778Q(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)		TGCAGTAACCGGCAGCCCCTG	0.587000													5	52					0	0	0.001168	0	0
SORCS3	22986	broad.mit.edu	37	10	106907469	106907469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:106907469C>A	ENST00000369701.3	+	9	1624	c.1397C>A	c.(1396-1398)aCg>aAg	p.T466K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	466						integral to membrane	neuropeptide receptor activity	p.T466K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCTCAGACACGCGTGGGATT	0.448000													10	46					4.68919e-08	6.29393e-08	0.008291	1	0
GGNBP2	79893	broad.mit.edu	37	17	34942353	34942353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:34942353G>T	ENST00000304718.4	+	11	1766	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	484					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.D484Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGAGGGTTCGGATGTTGCCTG	0.418000													28	93					3.00307e-07	3.90916e-07	0.008361	1	0
EGFR	1956	broad.mit.edu	37	7	55249005	55249005	+	Missense_Mutation	SNP	G	G	T	rs146024686		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:55249005G>T	ENST00000275493.2	+	20	2480	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	EGFR_ENST00000455089.1_Missense_Mutation_p.S723I|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.S715I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	768	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S768I(24)|p.S768N(1)|p.S768_V769insVAS(1)|p.S768_V769>IL(1)|p.S768T(1)|p.A767_S768insTLA(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGATGGCCAGCGTGGACAAC	0.637000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			19	78					3.28513e-13	4.93586e-13	0.021523	1	0
BAI3	577	broad.mit.edu	37	6	70071278	70071278	+	Silent	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:70071278A>G	ENST00000370598.1	+	29	4934	c.4113A>G	c.(4111-4113)gaA>gaG	p.E1371E	BAI3_ENST00000238918.8_Silent_p.E577E|BAI3_ENST00000546190.1_Silent_p.E335E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1371					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CACCCCAGGAACATATGCAGA	0.423000													3	107					0	0	0.004672	0	0
SALL1	6299	broad.mit.edu	37	16	51174771	51174771	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:51174771G>A	ENST00000440970.1	-	2	1502	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.C454C	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	454					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGACCTTCGCGCAGAACCTGC	0.512000													4	111					0	0	0.009096	0	0
ABCA6	23460	broad.mit.edu	37	17	67119514	67119514	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:67119514G>A	ENST00000284425.2	-	10	1476	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	434					transport	integral to membrane	ATP binding|ATPase activity	p.F434L(1)|p.F434F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATGAATTCAAGAAAAATAAAG	0.363000													6	32					0	0	0.001168	0	0
PNPLA8	50640	broad.mit.edu	37	7	108119758	108119758	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:108119758T>C	ENST00000426128.2	-	9	1883	c.1758A>G	c.(1756-1758)ccA>ccG	p.P586P	PNPLA8_ENST00000257694.8_Silent_p.P648P|PNPLA8_ENST00000453144.1_Silent_p.P548P|PNPLA8_ENST00000422087.1_Silent_p.P648P|PNPLA8_ENST00000388728.5_Silent_p.P586P|PNPLA8_ENST00000436062.1_Silent_p.P648P	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	648	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.P648P(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ACGGCACATCTGGCCAAAGAC	0.393000													24	61					0	0	0.018920	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703884	7703884	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:7703884C>T	ENST00000340209.4	+	9	1137	c.840C>T	c.(838-840)cgC>cgT	p.R280R	RBFOX1_ENST00000436368.2_Silent_p.R295R|RBFOX1_ENST00000550418.1_Silent_p.R275R|RBFOX1_ENST00000552089.1_Silent_p.R292R|RBFOX1_ENST00000422070.4_Silent_p.R318R|RBFOX1_ENST00000553186.1_Silent_p.R248R|RBFOX1_ENST00000547372.1_Silent_p.R318R|RBFOX1_ENST00000535565.2_Silent_p.R232R|RBFOX1_ENST00000547338.1_Silent_p.R275R|RBFOX1_ENST00000311745.5_Silent_p.R295R|RBFOX1_ENST00000355637.4_Silent_p.R295R			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	275					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.R295R(2)|p.R275R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCGAGGCCGCGGTCGCACCG	0.731000													4	29					0	0	0.009096	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400700	117400700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:117400700A>C	ENST00000160373.3	-	10	3052	c.2961T>G	c.(2959-2961)gaT>gaG	p.D987E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	987								p.D987E(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTCCAAGTCATCAGAACCAT	0.348000													30	134					0	0	0.008361	0	0
WSCD1	23302	broad.mit.edu	37	17	6021387	6021387	+	Silent	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:6021387T>A	ENST00000574946.1	+	8	1644	c.1254T>A	c.(1252-1254)atT>atA	p.I418I	WSCD1_ENST00000573634.1_Silent_p.I302I|WSCD1_ENST00000539421.1_Silent_p.I418I|WSCD1_ENST00000317744.5_Silent_p.I418I|WSCD1_ENST00000574232.1_Silent_p.I418I			Q658N2	WSCD1_HUMAN	WSC domain containing 1	418						integral to membrane	sulfotransferase activity	p.I418I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGAGGGAGATTGAGATGTTTG	0.547000													13	33					0	0	0.016723	0	0
ADAM2	2515	broad.mit.edu	37	8	39679167	39679167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:39679167G>T	ENST00000265708.4	-	5	385	c.282C>A	c.(280-282)taC>taA	p.Y94*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.Y94*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.Y94*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.Y94*|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	94					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATACCCTTGGTAGTGGCAGA	0.299000													3	74					0.00024832	0.000288433	0.009096	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	10					0	0	0.009096	0	0
LPPR4	9890	broad.mit.edu	37	1	99771298	99771298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:99771298G>T	ENST00000370185.3	+	7	1521	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.D284Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.D184Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		342							phosphatidate phosphatase activity	p.D342Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCAGCACAGAGACGCCCTCAG	0.448000													42	97					1.22674e-20	1.96019e-20	0.008740	1	0
TRBV24-1	28563	broad.mit.edu	37	7	142364503	142364503	+	RNA	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:142364503G>T	ENST00000390397.2	+	0	174																											CTCAGACTAAGGGTCATGATA	0.438000													11	19					6.42651e-13	9.56062e-13	0.010729	1	0
CSMD3	114788	broad.mit.edu	37	8	113323246	113323246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:113323246C>A	ENST00000297405.5	-	50	8090	c.7846G>T	c.(7846-7848)Ggg>Tgg	p.G2616W	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2546W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2512W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2576W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2616	Sushi 14.					integral to membrane|plasma membrane		p.G2576W(1)|p.G2616W(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCATGATACCCATAGGAAGAC	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			48	58					3.10996e-30	5.189e-30	0.014410	1	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	38					0	0	0.014758	0	0
C11orf88	399949	broad.mit.edu	37	11	111385678	111385678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:111385678C>A	ENST00000529167.1	+	1	169	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	C11orf88_ENST00000375618.4_Missense_Mutation_p.R57S|C11orf88_ENST00000332814.6_Missense_Mutation_p.R57S|RP11-794P6.6_ENST00000530283.1_RNA			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	57								p.R57S(2)		endometrium(1)|large_intestine(3)|lung(2)	6						GCTGGTGCTGCGCAGAGACAG	0.587000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	45					0.00621372	0.00677452	0.006214	1	0
VSIG4	11326	broad.mit.edu	37	X	65252505	65252505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:65252505C>A	ENST00000455586.2	-	3	625	c.499G>T	c.(499-501)Gct>Tct	p.A167S	VSIG4_ENST00000374737.4_Missense_Mutation_p.A167S|VSIG4_ENST00000412866.2_Intron	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	167	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding	p.A167S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACCCCGAGCCTGGCATTGA	0.488000													3	37					0.004672	0.00511212	0.004672	1	0
ATRNL1	26033	broad.mit.edu	37	10	116889227	116889227	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:116889227C>T	ENST00000355044.3	+	5	885	c.759C>T	c.(757-759)tgC>tgT	p.C253C	ATRNL1_ENST00000527407.1_Silent_p.C253C|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	253						integral to membrane	sugar binding	p.C253C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAGCCAATTGCGGCAGTCCAG	0.413000													17	43					0	0	0.004007	0	0
PEX1	5189	broad.mit.edu	37	7	92147358	92147358	+	Splice_Site	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:92147358T>A	ENST00000248633.4	-	5	568		c.e5-2		PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Splice_Site	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTAGTGCAACTGTGTAGAAAA	0.388000													6	37					0	0	0.001984	0	0
TMEM135	65084	broad.mit.edu	37	11	87013423	87013423	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:87013423C>T	ENST00000340353.7	+	7	773	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	TMEM135_ENST00000535167.1_Missense_Mutation_p.H74Y|TMEM135_ENST00000532959.1_Missense_Mutation_p.H84Y|TMEM135_ENST00000305494.5_Missense_Mutation_p.H213Y	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	213						integral to membrane		p.H213Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGAGAGCAACATGAGGAAAA	0.383000													16	99					0	0	0.003163	0	0
CD101	9398	broad.mit.edu	37	1	117559956	117559956	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:117559956G>T	ENST00000256652.4	+	5	1531	c.1473G>T	c.(1471-1473)tgG>tgT	p.W491C	CD101_ENST00000369470.1_Missense_Mutation_p.W491C	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	491	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.W491_A492>CS(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATGGACTGGGCCACCTTCC	0.547000													20	84					1.37878e-21	2.22669e-21	0.018920	1	0
KCTD7	154881	broad.mit.edu	37	7	66103260	66103260	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:66103260G>A	ENST00000275532.3	+	3	519	c.335G>A	c.(334-336)cGc>cAc	p.R112H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R112H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	112	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R112H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AATTTCCTGCGCTCAGGGGAC	0.567000													7	92					0	0	0.001984	0	0
CD101	9398	broad.mit.edu	37	1	117559957	117559957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:117559957G>T	ENST00000256652.4	+	5	1532	c.1474G>T	c.(1474-1476)Gcc>Tcc	p.A492S	CD101_ENST00000369470.1_Missense_Mutation_p.A492S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	492	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.W491_A492>CS(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATGGACTGGGCCACCTTCCA	0.552000													20	87					1.37878e-21	2.22669e-21	0.018920	1	0
TAF9B	51616	broad.mit.edu	37	X	77395088	77395088	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:77395088C>A	ENST00000341864.5	-	1	115	c.21G>T	c.(19-21)gcG>gcT	p.A7A		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	7					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	p.A7A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TCTTGGGAGGCGCCATCTTGC	0.657000													5	88					0.000602214	0.000688897	0.014758	1	0
SAMSN1	64092	broad.mit.edu	37	21	15872985	15872985	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr21:15872985C>A	ENST00000285670.2	-	7	1011	c.837G>T	c.(835-837)gtG>gtT	p.V279V	SAMSN1_ENST00000400564.1_Silent_p.V43V|SAMSN1_ENST00000400566.1_Silent_p.V211V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	211	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.V211V(1)|p.V279V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGAAGTTTCCCACTTTATTGT	0.388000													56	120					2.93687e-30	4.92742e-30	0.014410	1	0
NFASC	23114	broad.mit.edu	37	1	204955154	204955154	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:204955154C>T	ENST00000367172.4	+	23	3031	c.2703C>T	c.(2701-2703)taC>taT	p.Y901Y	NFASC_ENST00000404076.1_Silent_p.Y880Y|NFASC_ENST00000338515.6_Silent_p.Y901Y|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367171.4_Silent_p.Y886Y|NFASC_ENST00000367170.4_Silent_p.Y901Y|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000539706.1_Silent_p.Y897Y|NFASC_ENST00000513543.1_Silent_p.Y897Y|NFASC_ENST00000360049.4_Silent_p.Y897Y|NFASC_ENST00000338586.6_Silent_p.Y901Y|NFASC_ENST00000404907.1_Silent_p.Y897Y			O94856	NFASC_HUMAN	neurofascin	901	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.Y897Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTTCCCCTACAGTAACTACA	0.592000													4	39					0	0	0.009096	0	0
LRIG1	26018	broad.mit.edu	37	3	66436675	66436675	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:66436675T>C	ENST00000383703.3	-	14	2194	c.1591A>G	c.(1591-1593)Atg>Gtg	p.M531V	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.M507V|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	507	Ig-like C2-type 1.					integral to membrane		p.M507V(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCCCACCATAGCCATGGTG	0.537000													6	225					0	0	0.001168	0	0
PARM1	25849	broad.mit.edu	37	4	75937931	75937931	+	Missense_Mutation	SNP	G	G	A	rs34305542		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr4:75937931G>A	ENST00000307428.7	+	2	552	c.340G>A	c.(340-342)Ggt>Agt	p.G114S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	114					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		p.G114S(2)|p.G173S(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GTCAACAAGCGGTGGAGTCCA	0.567000													30	52					0	0	0.007291	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087237	39087237	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr21:39087237G>T	ENST00000400482.3	-	3	812	c.223C>A	c.(223-225)Cgc>Agc	p.R75S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R75S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	75					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R75S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCAGGTAGCGATAGGTCTCC	0.463000													46	84					4.44401e-20	7.02666e-20	0.010771	1	0
COL23A1	91522	broad.mit.edu	37	5	177715330	177715330	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:177715330A>G	ENST00000390654.3	-	5	793	c.436T>C	c.(436-438)Tac>Cac	p.Y146H	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	146	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding	p.Y146H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATTACCGGGTAGCCATCTCGT	0.418000													29	144					0	0	0.006320	0	0
ATP2B4	493	broad.mit.edu	37	1	203652429	203652429	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:203652429C>A	ENST00000357681.5	+	2	1219	c.96C>A	c.(94-96)ctC>ctA	p.L32L	ATP2B4_ENST00000367218.3_Silent_p.L32L|ATP2B4_ENST00000341360.2_Silent_p.L32L|ATP2B4_ENST00000391954.2_Silent_p.L32L|ATP2B4_ENST00000367219.3_Silent_p.L32L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	32					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.L32L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGAGGAAGCTCATGGAGCTGC	0.522000													73	116					3.78398e-24	6.21067e-24	0.014410	1	0
ARMC4P1	101060171	broad.mit.edu	37	10	27577698	27577698	+	RNA	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:27577698G>A	ENST00000576034.1	+	0	588																											CAGGAAGCAAGTGCAGATTTG	0.398000													5	42					0	0	0.001168	0	0
CASZ1	54897	broad.mit.edu	37	1	10703261	10703261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:10703261G>A	ENST00000377022.3	-	19	4293	c.3976C>T	c.(3976-3978)Cgg>Tgg	p.R1326W	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R1326W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCATCCTCCGCATGTGCTTC	0.647000													12	43					0	0	0.016723	0	0
MUC17	140453	broad.mit.edu	37	7	100686537	100686537	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:100686537C>A	ENST00000306151.4	+	3	11904	c.11840C>A	c.(11839-11841)aCc>aAc	p.T3947N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3947						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3947N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTGTCACCAGTTCTACT	0.463000													30	90					2.70662e-09	3.73242e-09	0.009535	1	0
NEUROD4	58158	broad.mit.edu	37	12	55421051	55421051	+	Silent	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:55421051C>G	ENST00000242994.3	+	2	1206	c.828C>G	c.(826-828)tcC>tcG	p.S276S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	276					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S276S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TAGAAAAATCCTACAGCTTCA	0.502000													31	202					0	0	0.010818	0	0
FGF4	2249	broad.mit.edu	37	11	69588893	69588893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:69588893G>T	ENST00000168712.1	-	2	661	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	FGF4_ENST00000538040.1_Intron	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	115					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding	p.L115M(1)		lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	AGCTCCAGCAGGCCTGGGGGC	0.692000													4	8					0.00024832	0.000288433	0.009096	1	0
BPI	671	broad.mit.edu	37	20	36965569	36965569	+	Missense_Mutation	SNP	G	G	A	rs5743549	byFrequency	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr20:36965569G>A	ENST00000262865.4	+	15	1536	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N		NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	483					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.D483N(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTTCGGTGCAGACGTTGTCTA	0.547000													19	169					0	0	0.016522	0	0
ZNF226	7769	broad.mit.edu	37	19	44680542	44680542	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:44680542C>T	ENST00000590089.1	+	7	1494	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.S376F|ZNF226_ENST00000337433.5_Missense_Mutation_p.S376F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S376F(1)					Prostate(69;0.0352)|all_neural(266;0.202)				AGTCAGGCCTCTCATCTTCAG	0.478000													20	58					0	0	0.010504	0	0
OR4N2	390429	broad.mit.edu	37	14	20296047	20296047	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr14:20296047C>A	ENST00000568211.1	+	1	440	c.440C>A	c.(439-441)gCt>gAt	p.A147D	OR4N2_ENST00000315947.1_Missense_Mutation_p.A147D			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGATGTTGGCTCTGTGGCTT	0.522000													5	175					5.18039e-06	6.46479e-06	0.003080	1	0
CTNNA1	1495	broad.mit.edu	37	5	138118888	138118888	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:138118888A>T	ENST00000302763.7	+	3	218	c.128A>T	c.(127-129)aAt>aTt	p.N43I	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Missense_Mutation_p.N43I	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	43	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	p.N43I(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTAAACACCAATAGTAAAGGG	0.363000													15	34					0	0	0.003163	0	0
FGF10	2255	broad.mit.edu	37	5	44388547	44388547	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:44388547T>C	ENST00000264664.4	-	1	352	c.238A>G	c.(238-240)Aga>Gga	p.R80G		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	80					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AATAGCTTTCTCCAGCGGACA	0.507000													3	59					0	0	0.009096	0	0
ZNF678	339500	broad.mit.edu	37	1	227843217	227843217	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:227843217C>T	ENST00000343776.4	+	4	1611	c.1266C>T	c.(1264-1266)agC>agT	p.S422S	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.S477S			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	477					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S422S(1)|p.S477S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACCTAACTAGCCATAAGAGAA	0.368000													5	58					0	0	0.014758	0	0
FSHR	2492	broad.mit.edu	37	2	49247259	49247259	+	Missense_Mutation	SNP	C	C	G	rs140960768	byFrequency	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:49247259C>G	ENST00000406846.2	-	3	384	c.265G>C	c.(265-267)Gat>Cat	p.D89H	FSHR_ENST00000346173.3_Missense_Mutation_p.D89H|FSHR_ENST00000304421.4_Missense_Mutation_p.D89H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	89					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.D89H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGAACACATCTGCCTCTATC	0.378000									Gonadal Dysgenesis, 46 XX				13	438					0	0	0.020292	0	0
CDH6	1004	broad.mit.edu	37	5	31299636	31299636	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:31299636C>A	ENST00000265071.2	+	5	974	c.709C>A	c.(709-711)Caa>Aaa	p.Q237K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q182K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	237	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q237K(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGGTGATTCAAGCCAAGGA	0.498000													27	57					1.1804e-14	1.81877e-14	0.021523	1	0
CSMD3	114788	broad.mit.edu	37	8	113563023	113563023	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:113563023G>T	ENST00000297405.5	-	27	4685	c.4441C>A	c.(4441-4443)Ctt>Att	p.L1481I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L1481I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1377I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1441I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1481	CUB 8.					integral to membrane|plasma membrane		p.L1441I(1)|p.L1481I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCTTTAAAAGCATATCATTT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	106					0.000157383	0.000184941	0.003080	1	0
MSI2	124540	broad.mit.edu	37	17	55478805	55478805	+	Silent	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:55478805A>C	ENST00000284073.2	+	6	587	c.378A>C	c.(376-378)gtA>gtC	p.V126V	MSI2_ENST00000416426.2_Silent_p.V104V|MSI2_ENST00000322684.3_Silent_p.V122V|MSI2_ENST00000579180.1_Silent_p.V22V|MSI2_ENST00000442934.2_Silent_p.V65V	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	126	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.V126V(1)|p.V122V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TGGAAGATGTAAAGCAATATT	0.463000			T	HOXA9	CML								14	82					0	0	0.004007	0	0
PDE1B	5153	broad.mit.edu	37	12	54967437	54967437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:54967437G>T	ENST00000243052.3	+	10	1444	c.1008G>T	c.(1006-1008)atG>atT	p.M336I	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.M295I|PDE1B_ENST00000550620.1_Missense_Mutation_p.M316I	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	336	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.M336I(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCACAGACATGTCCTGCCATT	0.582000													19	141					4.35082e-09	5.94546e-09	0.010504	1	0
ZNF271P	10778	broad.mit.edu	37	18	32886416	32886416	+	RNA	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr18:32886416A>G	ENST00000399070.3	+	0	810					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						GAAAAACCCTATCAATGCCGT	0.393000													3	4					0	0	0.004672	0	0
MEIS3	56917	broad.mit.edu	37	19	47920532	47920532	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:47920532C>A	ENST00000331559.5	-	2	529	c.88G>T	c.(88-90)Gca>Tca	p.A30S	MEIS3_ENST00000558555.1_Missense_Mutation_p.A30S|MEIS3_ENST00000559524.1_Missense_Mutation_p.A30S|MEIS3_ENST00000561293.1_Missense_Mutation_p.A30S|MEIS3_ENST00000561096.1_Missense_Mutation_p.A118S|MEIS3_ENST00000441740.2_Missense_Mutation_p.A30S	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A30S(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCTGGTACTGCGGGCACTGTC	0.652000													15	52					5.3912e-06	6.70018e-06	0.006122	1	0
OR1J2	26740	broad.mit.edu	37	9	125273566	125273566	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr9:125273566C>A	ENST00000335302.5	+	1	486	c.486C>A	c.(484-486)ctC>ctA	p.L162L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACACCCTTCTCCTGACCCGGC	0.527000													27	95					2.48779e-11	3.64716e-11	0.005443	1	0
GBP5	115362	broad.mit.edu	37	1	89735197	89735197	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:89735197G>A	ENST00000343435.5	-	3	578	c.42C>T	c.(40-42)atC>atT	p.I14I	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.I14I	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	14						plasma membrane	GTP binding|GTPase activity	p.I14I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAAAGTTCTCGATGAGGCACA	0.478000													8	202					0	0	0.004482	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458381	101458381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:101458381C>A	ENST00000370489.4	+	10	1279	c.1101C>A	c.(1099-1101)aaC>aaA	p.N367K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	367						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.N367K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TGGAGAGGAACAGCCAAGTCT	0.567000													6	46					0.00116845	0.00130693	0.001168	1	0
FYB	2533	broad.mit.edu	37	5	39201957	39201957	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:39201957G>A	ENST00000351578.6	-	2	1296	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	FYB_ENST00000512982.1_Missense_Mutation_p.T369M|FYB_ENST00000515010.1_Missense_Mutation_p.T369M|FYB_ENST00000505428.1_Missense_Mutation_p.T369M|FYB_ENST00000540520.1_Missense_Mutation_p.T379M	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	369	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.T369M(3)|p.T379M(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTGGAATTTCGTCAGGTCAAC	0.458000													4	44					0	0	0.014758	0	0
BRINP2	57795	broad.mit.edu	37	1	177199216	177199216	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:177199216T>C	ENST00000361539.4	+	2	516	c.204T>C	c.(202-204)gcT>gcC	p.A68A		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		68						extracellular region		p.A68A(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCCACCGCGCTCAGGAGTATG	0.642000													13	127					0	0	0.003163	0	0
DCLK3	85443	broad.mit.edu	37	3	36779750	36779750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:36779750C>A	ENST00000416516.2	-	2	891	c.401G>T	c.(400-402)gGt>gTt	p.G134V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	134						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G134V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GATAATTTCACCCGAGGTCTT	0.572000													34	91					1.36615e-20	2.17145e-20	0.013726	1	0
GPR142	350383	broad.mit.edu	37	17	72368476	72368476	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:72368476G>A	ENST00000335666.4	+	4	1174	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	376						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.V376L(2)|p.V376I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCGGGTCTTCGTCATGCTCTA	0.662000													11	59					0	0	0.008291	0	0
KCTD19	146212	broad.mit.edu	37	16	67328886	67328886	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:67328886C>T	ENST00000304372.5	-	10	1520	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	489						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E489K(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGTATGCTTCACATTGTGCA	0.443000													14	40					0	0	0.016723	0	0
CEP89	84902	broad.mit.edu	37	19	33370118	33370118	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:33370118C>A	ENST00000305768.4	-	19	2390	c.2302G>T	c.(2302-2304)Ggc>Tgc	p.G768C		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	768						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ACATCGCAGCCGTCCAGCAGG	0.612000													4	90					4.35082e-09	5.94546e-09	0.010504	1	0
NGFRAP1	27018	broad.mit.edu	37	X	102632569	102632569	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:102632569C>A	ENST00000361298.4	+	3	485	c.120C>A	c.(118-120)gcC>gcA	p.A40A	NGFRAP1_ENST00000372645.3_Silent_p.A50A|NGFRAP1_ENST00000372635.1_Silent_p.A50A|NGFRAP1_ENST00000372634.1_Silent_p.A40A|NGFRAP1_ENST00000299872.7_Silent_p.A50A	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	50					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	p.A50A(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TTCGATGGGCCATACCCAATA	0.517000													10	215					3.07112e-06	3.88066e-06	0.010729	1	0
SNX13	23161	broad.mit.edu	37	7	17838743	17838743	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:17838743A>G	ENST00000409389.1	-	23	2538	c.2366T>C	c.(2365-2367)cTt>cCt	p.L789P	SNX13_ENST00000428135.3_Missense_Mutation_p.L778P|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	789					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	p.L778P(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATCCATGAGAAGCAGCATTAC	0.333000													5	51					0	0	0.014758	0	0
MMEL1	79258	broad.mit.edu	37	1	2537763	2537763	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:2537763G>C	ENST00000288709.6	-	8	887	c.647C>G	c.(646-648)tCa>tGa	p.S216*	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.S225*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	225					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.S216*(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTTGAACTGTGAGTTCATCAG	0.672000													3	29					0	0	0.004672	0	0
KIAA0907	22889	broad.mit.edu	37	1	155895471	155895471	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:155895471T>G	ENST00000368320.3	-	7	870	c.845A>C	c.(844-846)gAg>gCg	p.E282A	KIAA0907_ENST00000368319.3_Missense_Mutation_p.E282A|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.E282A			Q7Z7F0	K0907_HUMAN	KIAA0907	282								p.E282A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AGATGCTGGCTCAATGCAGCC	0.483000													5	120					0	0	0.001168	0	0
PPM1D	8493	broad.mit.edu	37	17	58678193	58678193	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:58678193G>T	ENST00000305921.3	+	1	650	c.418G>T	c.(418-420)Gct>Tct	p.A140S		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	140	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.A140S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAGGTTTGCGCTGCCATCCG	0.592000													23	37					2.89027e-11	4.21672e-11	0.014323	1	0
TSGA10	80705	broad.mit.edu	37	2	99636892	99636892	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:99636892C>G	ENST00000393483.3	-	18	2512	c.1668G>C	c.(1666-1668)caG>caC	p.Q556H	TSGA10_ENST00000355053.4_Missense_Mutation_p.Q556H|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q556H|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q556H	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	556	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane		p.Q556H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CATTTGCCATCTGACTCCTCA	0.383000													8	49					0	0	0.008291	0	0
CPT1A	1374	broad.mit.edu	37	11	68530172	68530172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:68530172C>A	ENST00000265641.5	-	15	1952	c.1798G>T	c.(1798-1800)Ggg>Tgg	p.G600W	CPT1A_ENST00000376618.2_Missense_Mutation_p.G600W|CPT1A_ENST00000540367.1_Missense_Mutation_p.G600W|CPT1A_ENST00000539743.1_Missense_Mutation_p.G600W|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	600					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.G600W(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TCCGTCCTCCCCTCTCGGAAG	0.612000													11	27					0.000978159	0.00111473	0.010729	1	0
ZNF99	7652	broad.mit.edu	37	19	22940301	22940301	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:22940301G>A	ENST00000397104.3	-	5	2136	c.2137C>T	c.(2137-2139)Ctt>Ttt	p.L713F	ZNF99_ENST00000596209.1_Missense_Mutation_p.L804F					zinc finger protein 99									p.L713F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGGGTTGAGGAA	0.338000													5	25					0	0	0.001168	0	0
USP9X	8239	broad.mit.edu	37	X	41029762	41029762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:41029762C>T	ENST00000324545.7	+	20	3550	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	USP9X_ENST00000378308.2_Missense_Mutation_p.P973S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	973					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.P966S(1)|p.P973S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCCAATATGCCTTCAAGCCC	0.363000													4	66					0	0	0.014758	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													3	46					0	0	0.004672	0	0
OR7G1	125962	broad.mit.edu	37	19	9226302	9226302	+	Silent	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:9226302G>C	ENST00000293614.1	-	1	137	c.138C>G	c.(136-138)ctC>ctG	p.L46L	OR7G1_ENST00000541538.1_Silent_p.L46L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGACAGCCAGGAGAATGAGCA	0.488000													16	86					0	0	0.004007	0	0
CIZ1	25792	broad.mit.edu	37	9	130942800	130942800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr9:130942800G>A	ENST00000538431.1	-	7	932	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	CIZ1_ENST00000372954.1_Nonsense_Mutation_p.Q205*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.Q200*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.Q128*|CIZ1_ENST00000393608.1_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000372948.3_Nonsense_Mutation_p.Q229*	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	229						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGTAAATCTTGGTCTGGAATG	0.582000													3	69					0	0	0.009096	0	0
PRRC2C	23215	broad.mit.edu	37	1	171511222	171511222	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:171511222A>T	ENST00000367742.3	+	16	4859	c.4617A>T	c.(4615-4617)gaA>gaT	p.E1539D	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E1537D|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E1539D|PRRC2C_ENST00000338920.4_Missense_Mutation_p.E1537D			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1537							protein C-terminus binding	p.E1539D(2)									CAAAGAGGGAAATTGCAAAGA	0.418000													32	30					0	0	0.008361	0	0
DCLK1	9201	broad.mit.edu	37	13	36382450	36382450	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr13:36382450C>A	ENST00000255448.4	-	14	1985	c.1774G>T	c.(1774-1776)Gat>Tat	p.D592Y	DCLK1_ENST00000379893.1_Missense_Mutation_p.D285Y|DCLK1_ENST00000360631.3_Missense_Mutation_p.D592Y	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	592	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.D592Y(2)|p.D285Y(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCTGGTCATCACCACTTCTG	0.448000													16	53					1.01871e-10	1.47201e-10	0.008871	1	0
ROBO2	6092	broad.mit.edu	37	3	77629248	77629248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:77629248G>A	ENST00000461745.1	+	16	3379	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	ROBO2_ENST00000332191.8_Missense_Mutation_p.E827K|ROBO2_ENST00000487694.3_Missense_Mutation_p.E843K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	827					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.E843K(1)|p.E827K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTAAAGAGTGAGCCACAGCC	0.448000													14	30					0	0	0.004990	0	0
ANXA6	309	broad.mit.edu	37	5	150509007	150509007	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:150509007G>A	ENST00000354546.5	-	12	1106	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Silent_p.F261F|ANXA6_ENST00000521512.1_Silent_p.F86F|ANXA6_ENST00000356496.5_Silent_p.F293F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	293						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.F345F(1)|p.F293F(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTGGTCCGGAAGATCTCCC	0.552000													10	31					0	0	0.013537	0	0
SMC1B	27127	broad.mit.edu	37	22	45758883	45758883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr22:45758883G>C	ENST00000357450.4	-	16	2443	c.2444C>G	c.(2443-2445)aCt>aGt	p.T815S	SMC1B_ENST00000404354.3_Missense_Mutation_p.T815S	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	815					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.T815S(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATTAAGCCGAGTTTTTTGTTT	0.299000													3	50					0	0	0.004672	0	0
CDIPT	10423	broad.mit.edu	37	16	29874031	29874031	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:29874031C>T	ENST00000219789.6	-	2	932	c.54G>A	c.(52-54)cgG>cgA	p.R18R	CDIPT_ENST00000563415.1_Silent_p.R18R|CDIPT_ENST00000569956.1_Silent_p.R18R|CDIPT_ENST00000570016.1_Silent_p.R18R|CDIPT_ENST00000566113.1_Intron	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	18						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	p.R18R(1)		endometrium(1)|lung(3)	4						CGAAGACAATCCGGGCATAAC	0.652000													11	47					0	0	0.008291	0	0
PREX2	80243	broad.mit.edu	37	8	68965476	68965476	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:68965476G>A	ENST00000288368.4	+	9	1365	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	363					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R363Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAGAACGGCGGAAAGGTGGG	0.373000													11	134					0	0	0.010729	0	0
RAB3C	115827	broad.mit.edu	37	5	58147149	58147149	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:58147149C>T	ENST00000282878.4	+	5	824	c.655C>T	c.(655-657)Cct>Tct	p.P219S	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	219					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.P219S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GGAAACTCCTCCTCCACCGCA	0.527000													12	29					0	0	0.010729	0	0
OR2M4	26245	broad.mit.edu	37	1	248402835	248402835	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:248402835G>A	ENST00000306687.1	+	1	605	c.605G>A	c.(604-606)tGt>tAt	p.C202Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C202Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTGTCATTTGTTGTGTGGTA	0.438000													76	83					0	0	0.014410	0	0
OR6C2	341416	broad.mit.edu	37	12	55846592	55846592	+	Missense_Mutation	SNP	C	C	T	rs141026850		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:55846592C>T	ENST00000322678.1	+	1	595	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L199F(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GATGGTTATACTTATGGCTGT	0.398000													13	148					0	0	0.016723	0	0
SPATA16	83893	broad.mit.edu	37	3	172835115	172835115	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:172835115C>A	ENST00000351008.3	-	2	590	c.407G>T	c.(406-408)cGc>cTc	p.R136L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAACTCATAGCGAACACCCAT	0.423000													5	121					1.024e-07	1.36835e-07	0.014758	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621188	144621188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:144621188G>C	ENST00000262577.5	-	2	380	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	117					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCTGACTGAGCTGGACCTGT	0.622000													5	124					0	0	0.014758	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170978	207170978	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:207170978T>A	ENST00000374423.3	+	5	2112	c.1726T>A	c.(1726-1728)Tcg>Acg	p.S576T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	576							nucleic acid binding|zinc ion binding	p.S576T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAACTATGGATCGAGTTGTTC	0.438000													3	33					0	0	0.004672	0	0
ATRX	546	broad.mit.edu	37	X	76875878	76875878	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:76875878T>C	ENST00000373344.5	-	20	5471	c.5257A>G	c.(5257-5259)Aat>Gat	p.N1753D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1715D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1753	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.N1753D(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTAGGTTATTTTGAAGTGGT	0.318000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						24	43					0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179445159	179445159	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:179445159T>G	ENST00000589042.1	-	317	67171	c.66947A>C	c.(66946-66948)gAc>gCc	p.D22316A	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13376A|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13443A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20675A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19748A|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13251A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20675	Fibronectin type-III 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAAAGTGTCAAAGTCAGT	0.393000													3	94					0	0	0.004672	0	0
CH25H	9023	broad.mit.edu	37	10	90966547	90966547	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:90966547G>A	ENST00000371852.2	-	1	524	c.503C>T	c.(502-504)gCg>gTg	p.A168V		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	168					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding	p.A168V(1)		kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		CGTTGCCAGCGCGAACGAGGA	0.577000													5	89					0	0	0.014758	0	0
MIOS	54468	broad.mit.edu	37	7	7629038	7629038	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:7629038A>T	ENST00000340080.4	+	9	2308	c.1887A>T	c.(1885-1887)ttA>ttT	p.L629F	MIOS_ENST00000405785.1_Missense_Mutation_p.L629F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	629								p.L629F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTCCAGTTAAATAGATACA	0.313000													30	84					0	0	0.006320	0	0
PSG7	5676	broad.mit.edu	37	19	43439665	43439665	+	RNA	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:43439665C>A	ENST00000406070.2	-	0	417				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCTGGATCAGCAGGGATGCAT	0.423000													50	517					2.84144e-21	4.56444e-21	0.014410	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617000													3	45					0	0	0.004672	0	0
ABHD5	51099	broad.mit.edu	37	3	43743969	43743969	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:43743969G>A	ENST00000458276.2	+	3	519	c.396G>A	c.(394-396)gtG>gtA	p.V132V		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	132					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	p.V132V(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		ATCAGTTTGTGGAATCCATTG	0.468000													53	102					0	0	0.014410	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854181	12854181	+	Silent	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:12854181A>G	ENST00000332296.7	+	3	508	c.405A>G	c.(403-405)gcA>gcG	p.A135A		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	135								p.A135A(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGACAGCAGAGGACTGTC	0.547000													38	165					0	0	0.006999	0	0
FLG	2312	broad.mit.edu	37	1	152277225	152277225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:152277225C>A	ENST00000368799.1	-	3	10172	c.10137G>T	c.(10135-10137)agG>agT	p.R3379S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3379	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)			AACGTCCAGACCTTCCCCCTG	0.582000									Ichthyosis				7	463					0.000157383	0.000184941	0.003080	1	0
CEP89	84902	broad.mit.edu	37	19	33370119	33370119	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:33370119G>A	ENST00000305768.4	-	19	2389	c.2301C>T	c.(2299-2301)gaC>gaT	p.D767D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	767						centrosome|spindle pole		p.D767D(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CATCGCAGCCGTCCAGCAGGT	0.612000													5	94					0	0	0.012319	0	0
ISL1	3670	broad.mit.edu	37	5	50683565	50683565	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:50683565C>A	ENST00000230658.7	+	3	1045	c.460C>A	c.(460-462)Cgg>Agg	p.R154R	ISL1_ENST00000511384.1_Silent_p.R154R|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	154					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R154R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCATCCAGCGCGGCCACTGCA	0.647000													4	19					0.00909568	0.00970634	0.009096	1	0
TSGA10	80705	broad.mit.edu	37	2	99636894	99636894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:99636894G>A	ENST00000393483.3	-	18	2510	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	TSGA10_ENST00000355053.4_Nonsense_Mutation_p.Q556*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.Q556*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.Q556*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	556	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane		p.Q556*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTTGCCATCTGACTCCTCAGG	0.383000													8	49					0	0	0.008291	0	0
ELL2	22936	broad.mit.edu	37	5	95234413	95234413	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:95234413C>G	ENST00000237853.4	-	8	1405	c.1056G>C	c.(1054-1056)ttG>ttC	p.L352F	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	352					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		p.L352F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGTGGGATTCAAATGACCAT	0.498000													8	189					0	0	0.004482	0	0
ZNF474	133923	broad.mit.edu	37	5	121487887	121487887	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:121487887C>A	ENST00000296600.4	+	2	585	c.202C>A	c.(202-204)Cta>Ata	p.L68I	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	68						intracellular	zinc ion binding	p.L68I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GACTGTGATACTATCAAAACT	0.463000													40	91					6.33695e-27	1.05152e-26	0.007835	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70012166	70012166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:70012166G>A	ENST00000325845.7	-	24	2538	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	RP11-419C5.2_ENST00000532298.1_Nonsense_Mutation_p.Q189*|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR														p.Q189*(2)|p.Q157*(1)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						CGCAACTCTTGCGCACGTTGA	0.453000													32	123					0	0	0.021022	0	0
LILRA6	79168	broad.mit.edu	37	19	54744954	54744954	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:54744954G>T	ENST00000440558.2	-	5	756	c.708C>A	c.(706-708)gcC>gcA	p.A236A	LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.A236A|LILRA6_ENST00000396365.2_Silent_p.A236A|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Silent_p.A236A					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.A236A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGCCCAGGGGCCAGGACAG	0.642000													5	73					0.000602214	0.000688897	0.014758	1	0
HLTF	6596	broad.mit.edu	37	3	148760028	148760028	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:148760028G>C	ENST00000310053.5	-	19	2315	c.2122C>G	c.(2122-2124)Ctt>Gtt	p.L708V	HLTF_ENST00000392912.2_Missense_Mutation_p.L708V|HLTF_ENST00000465259.1_Missense_Mutation_p.L707V|HLTF_ENST00000494055.1_Missense_Mutation_p.L708V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	708					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTAAGCAAAAGACCCAGGACA	0.373000													3	68					0	0	0.004672	0	0
DUSP19	142679	broad.mit.edu	37	2	183948268	183948268	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:183948268C>T	ENST00000354221.4	+	2	434	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	DUSP19_ENST00000342619.6_Silent_p.L87L|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	87					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	p.L87L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTTGGATACACTGAAAAAGAA	0.294000													19	67					0	0	0.014323	0	0
ARID1A	8289	broad.mit.edu	37	1	27105723	27105723	+	Silent	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:27105723A>G	ENST00000324856.7	+	20	5705	c.5334A>G	c.(5332-5334)gaA>gaG	p.E1778E	ARID1A_ENST00000457599.2_Silent_p.E1561E|ARID1A_ENST00000374152.2_Silent_p.E1395E|ARID1A_ENST00000540690.1_Silent_p.E106E	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1778					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1778E(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGAAGAAGAAGAGGAAGTAG	0.468000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	58					0	0	0.001984	0	0
FLT1	2321	broad.mit.edu	37	13	29012365	29012365	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr13:29012365A>G	ENST00000282397.4	-	4	757	c.506T>C	c.(505-507)tTa>tCa	p.L169S	FLT1_ENST00000539099.1_Missense_Mutation_p.L169S|FLT1_ENST00000541932.1_Missense_Mutation_p.L169S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	169	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.L169S(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TACCTTTTTTAAAGTAACAGT	0.383000													4	34					0	0	0.014758	0	0
CNTN5	53942	broad.mit.edu	37	11	100170106	100170106	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:100170106G>A	ENST00000524871.1	+	20	2888	c.2598G>A	c.(2596-2598)gtG>gtA	p.V866V	CNTN5_ENST00000527185.1_Silent_p.V866V|CNTN5_ENST00000418526.2_Silent_p.V792V|CNTN5_ENST00000528682.1_Silent_p.V866V|CNTN5_ENST00000279463.3_Silent_p.V866V|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	866	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V866V(2)		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)		GTCAAATTGTGGTCATCTGTT	0.328000													23	43					0	0	0.021523	0	0
CDHR2	54825	broad.mit.edu	37	5	176008567	176008567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:176008567T>A	ENST00000510636.1	+	17	2316	c.2042T>A	c.(2041-2043)gTc>gAc	p.V681D	CDHR2_ENST00000261944.5_Missense_Mutation_p.V681D|CDHR2_ENST00000506348.1_Missense_Mutation_p.V681D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	681	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V681D(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AAAGTCAATGTCACCATCACT	0.627000													4	32					0	0	0.009096	0	0
HMCN1	83872	broad.mit.edu	37	1	186056670	186056670	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:186056670G>A	ENST00000271588.4	+	60	9485	c.9256G>A	c.(9256-9258)Gtg>Atg	p.V3086M	HMCN1_ENST00000367492.2_Missense_Mutation_p.V3086M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3086	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.V3086M(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCGAACGCTGTGCCACCTCC	0.438000													12	176					0	0	0.010729	0	0
FOXL1	2300	broad.mit.edu	37	16	86613358	86613358	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:86613358C>A	ENST00000320241.3	+	1	1244	c.1029C>A	c.(1027-1029)caC>caA	p.H343Q		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	343					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.H343Q(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGGTACTCCACTTCCAGTAAA	0.587000													12	28					4.3838e-07	5.68201e-07	0.016723	1	0
ASB10	136371	broad.mit.edu	37	7	150884096	150884096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:150884096G>C	ENST00000422024.1	-	1	382	c.257C>G	c.(256-258)tCt>tGt	p.S86C	ASB10_ENST00000275838.1_Missense_Mutation_p.S41C|ASB10_ENST00000434669.1_Missense_Mutation_p.S86C|ASB10_ENST00000420175.2_Missense_Mutation_p.S41C|ASB10_ENST00000377867.3_Intron	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	41					intracellular signal transduction			p.S41C(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCGGGCCAGACTTGAGGTG	0.662000													6	14					0	0	0.001168	0	0
PCSK6	5046	broad.mit.edu	37	15	101906498	101906498	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr15:101906498T>A	ENST00000348070.1	-	14	1757	c.1758A>T	c.(1756-1758)gaA>gaT	p.E586D	PCSK6_ENST00000331826.7_Missense_Mutation_p.E421D|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.E586D|PCSK6_ENST00000344273.2_Missense_Mutation_p.E586D|PCSK6_ENST00000398181.2_Missense_Mutation_p.E586D	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	587	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.E586D(3)|p.E421D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTCATGAATTCCCAGTTTG	0.537000													5	29					0	0	0.014758	0	0
NKTR	4820	broad.mit.edu	37	3	42674246	42674246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:42674246C>G	ENST00000232978.8	+	9	892	c.704C>G	c.(703-705)tCt>tGt	p.S235C	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	235	Arg/Lys-rich (basic).|Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.S235C(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GTTAAACGTTCTAAAAAGAGG	0.408000													3	55					0	0	0.009096	0	0
ITIH6	347365	broad.mit.edu	37	X	54783839	54783839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:54783839G>T	ENST00000218436.6	-	8	2697	c.2668C>A	c.(2668-2670)Cct>Act	p.P890T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	890	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P890T(1)									GGTCTGTCAGGTCTAGGAGGT	0.522000													20	69					1.15919e-05	1.42887e-05	0.008871	1	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978487	45978487	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr21:45978487C>A	ENST00000391620.1	-	1	156	c.112G>T	c.(112-114)Gcc>Tcc	p.A38S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	38	18 X 5 AA repeats of C-C-X(3).					keratin filament		p.A38S(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGGGCCGGGGCGCAGCAGCTG	0.697000													10	27					7.07596e-05	8.58209e-05	0.006122	1	0
CEP89	84902	broad.mit.edu	37	19	33370117	33370117	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:33370117C>A	ENST00000305768.4	-	19	2391	c.2303G>T	c.(2302-2304)gGc>gTc	p.G768V		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	768						centrosome|spindle pole		p.G768V(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GACATCGCAGCCGTCCAGCAG	0.617000													5	89					3.62473e-10	5.09148e-10	0.012319	1	0
GPR64	10149	broad.mit.edu	37	X	19031921	19031921	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:19031921G>T	ENST00000354791.3	-	15	1175	c.934C>A	c.(934-936)Cct>Act	p.P312T	GPR64_ENST00000357544.3_Missense_Mutation_p.P298T|GPR64_ENST00000379869.3_Missense_Mutation_p.P328T|GPR64_ENST00000379873.2_Missense_Mutation_p.P328T|GPR64_ENST00000357991.3_Missense_Mutation_p.P325T|GPR64_ENST00000379876.1_Missense_Mutation_p.P304T|GPR64_ENST00000340581.3_Missense_Mutation_p.P298T|GPR64_ENST00000379878.3_Missense_Mutation_p.P312T|GPR64_ENST00000360279.4_Missense_Mutation_p.P306T|GPR64_ENST00000356606.4_Missense_Mutation_p.P314T			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	328					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.P325T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TGGGGCATAGGGGAAGAGATC	0.572000													6	127					8.12818e-05	9.77973e-05	0.001984	1	0
OR8H2	390151	broad.mit.edu	37	11	55872950	55872950	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:55872950C>A	ENST00000313503.1	+	1	432	c.432C>A	c.(430-432)ctC>ctA	p.L144L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCCTCGCTCTCATCACTGGGC	0.443000										HNSCC(53;0.14)			7	196					1.06961e-07	1.42301e-07	0.003080	1	0
FAM83B	222584	broad.mit.edu	37	6	54805254	54805254	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:54805254G>T	ENST00000306858.7	+	5	1601	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	495								p.W495C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACGTAACTGGAGAATTGAAT	0.408000													16	94					7.81268e-19	1.22887e-18	0.004990	1	0
CACNA1S	779	broad.mit.edu	37	1	201044651	201044651	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:201044651G>A	ENST00000362061.3	-	13	2146	c.1920C>T	c.(1918-1920)taC>taT	p.Y640Y	CACNA1S_ENST00000367338.3_Silent_p.Y640Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	640					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.Y640Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGATGATGAAGTAAATGCACA	0.542000													26	181					0	0	0.010818	0	0
COL24A1	255631	broad.mit.edu	37	1	86581035	86581035	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:86581035T>C	ENST00000370571.2	-	4	1884	c.1518A>G	c.(1516-1518)ccA>ccG	p.P506P	COL24A1_ENST00000436319.1_Silent_p.P506P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	506	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent	p.P506P(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGACGGACCTGGGATACCTG	0.418000													7	29					0	0	0.003080	0	0
GRM7	2917	broad.mit.edu	37	3	6903372	6903372	+	Silent	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:6903372G>C	ENST00000486284.1	+	1	571	c.297G>C	c.(295-297)gtG>gtC	p.V99V	GRM7_ENST00000403881.1_Silent_p.V99V|GRM7_ENST00000389336.4_Silent_p.V99V|GRM7_ENST00000402647.2_Silent_p.V99V|GRM7_ENST00000357716.4_Silent_p.V99V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	99					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.V99V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGCCCAACGTGACGCTGGGCG	0.597000													6	13					0	0	0.001984	0	0
OR4M1	441670	broad.mit.edu	37	14	20248934	20248934	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr14:20248934G>T	ENST00000315957.4	+	1	534	c.453G>T	c.(451-453)ggG>ggT	p.G151G		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGGATGGGGGGCTTCATTC	0.502000													105	106					2.03867e-50	3.4784e-50	0.014410	1	0
CPA4	51200	broad.mit.edu	37	7	129939236	129939236	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:129939236G>T	ENST00000222482.4	+	3	305	c.277G>T	c.(277-279)Gac>Tac	p.D93Y	CPA4_ENST00000493259.1_Intron|CPA4_ENST00000445470.2_Missense_Mutation_p.D93Y	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	93					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.D93Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GACAATTGAGGACCTGCAGGT	0.522000													13	46					4.36969e-10	6.10947e-10	0.016723	1	0
BAGE2	85319	broad.mit.edu	37	21	11058332	11058332	+	RNA	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr21:11058332G>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCTGAAAGGGGTAAAGGAGA	0.373000													6	213					0	0	0.001984	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													4	54					0	0	0.009096	0	0
LUZP4	51213	broad.mit.edu	37	X	114536683	114536683	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:114536683G>A	ENST00000371920.3	+	2	225	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.G31R	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	73						nucleus		p.R73Q(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CATCGCCATCGGAGAGGTAAA	0.348000													19	152					0	0	0.008871	0	0
NPIPA1	9284	broad.mit.edu	37	16	15026684	15026684	+	Splice_Site	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:15026684G>C	ENST00000472413.1	+	16	3444		c.e16-1							nuclear pore complex interacting protein family, member A1																		CGCCTCTGCAGGGCTCAGCCC	0.642000													14	80					0	0	0.016723	0	0
CSF2RB	1439	broad.mit.edu	37	22	37329941	37329941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr22:37329941G>T	ENST00000262825.5	+	10	1455	c.1238G>T	c.(1237-1239)aGg>aTg	p.R413M	CSF2RB_ENST00000403662.3_Missense_Mutation_p.R407M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R413M|CSF2RB_ENST00000536485.1_Missense_Mutation_p.R354M	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	407	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.R407M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCTCCACCAGGTACTGGGCC	0.682000													6	25					3.59834e-05	4.38184e-05	0.001168	1	0
TSNARE1	203062	broad.mit.edu	37	8	143427140	143427140	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:143427140C>A	ENST00000524325.1	-	3	377	c.202G>T	c.(202-204)Gca>Tca	p.A68S	TSNARE1_ENST00000307180.3_Missense_Mutation_p.A68S|TSNARE1_ENST00000520166.1_Missense_Mutation_p.A68S|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	68					vesicle-mediated transport	integral to membrane		p.A68S(1)		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)					GGCGTGCCTGCTGGCCCCAGA	0.622000													16	23					1.3612e-06	1.72724e-06	0.003163	1	0
PTPRN2	5799	broad.mit.edu	37	7	157926709	157926709	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:157926709G>A	ENST00000389413.3	-	9	1319	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	PTPRN2_ENST00000389418.4_Missense_Mutation_p.H406Y|PTPRN2_ENST00000409483.1_Missense_Mutation_p.H368Y|PTPRN2_ENST00000404321.2_Missense_Mutation_p.H429Y|PTPRN2_ENST00000389416.4_Missense_Mutation_p.H389Y	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	406						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H406Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGAGACCCGTGGTCCTGCAGG	0.582000													13	42					0	0	0.020292	0	0
PIPSL	266971	broad.mit.edu	37	10	95720326	95720326	+	RNA	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:95720326G>T	ENST00000480546.1	-	0	971					NR_002319.2																						CTATATTATGGATTGACATCA	0.473000													8	67					7.48243e-07	9.57497e-07	0.006214	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203586	140203586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:140203586C>A	ENST00000529859.1	+	1	2226	c.2226C>A	c.(2224-2226)agC>agA	p.S742R	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S742R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S742R	NM_018908.2	NP_061731.1												p.S742R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.652000													8	25					0.000442599	0.000510172	0.006214	1	0
PSMD7	5713	broad.mit.edu	37	16	74339302	74339302	+	Missense_Mutation	SNP	G	G	A	rs115842956	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:74339302G>A	ENST00000219313.4	+	7	786	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	PSMD7_ENST00000540379.1_Missense_Mutation_p.A139T|PSMD7_ENST00000567958.1_Intron|AC009120.6_ENST00000565313.1_RNA|AC009120.6_ENST00000566411.1_RNA	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	216				A -> G (in Ref. 1; BAA08780).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.A216T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						GGAAAAAGTCGCCACAGGCAA	0.552000													13	20					0	0	0.016723	0	0
LUZP2	338645	broad.mit.edu	37	11	25098931	25098931	+	Silent	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:25098931A>C	ENST00000533227.1	+	11	944	c.657A>C	c.(655-657)gcA>gcC	p.A219A	LUZP2_ENST00000336930.6_Silent_p.A305A	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	305						extracellular region		p.A305A(1)		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						ATGCCACTGCAGAAACCGAGC	0.338000													22	69					0	0	0.004656	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	76					0	0	0.001168	0	0
RHAG	6005	broad.mit.edu	37	6	49582478	49582478	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:49582478C>A	ENST00000371175.4	-	5	755	c.729G>T	c.(727-729)acG>acT	p.T243T	RHAG_ENST00000229810.7_Silent_p.T243T	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	243					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.T243T(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GAGAGAAGTACGTGTTTACAA	0.537000													15	79					1.05317e-09	1.4657e-09	0.020292	1	0
ADAM18	8749	broad.mit.edu	37	8	39537627	39537627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:39537627C>A	ENST00000265707.5	+	16	1748	c.1703C>A	c.(1702-1704)aCa>aAa	p.T568K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.T544K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	568	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.T568K(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCTCAATCTACAGTTTATTCA	0.398000													12	98					1.36491e-13	2.07137e-13	0.016723	1	0
FFAR1	2864	broad.mit.edu	37	19	35842897	35842897	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:35842897G>A	ENST00000246553.2	+	1	453	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	148					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	p.G148E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GAGGCTCCAGGAGGCTGGCTG	0.682000													23	53					0	0	0.016522	0	0
MYH3	4621	broad.mit.edu	37	17	10535949	10535949	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:10535949G>A	ENST00000583535.1	-	34	4887	c.4800C>T	c.(4798-4800)agC>agT	p.S1600S	MYH3_ENST00000226209.7_Silent_p.S1600S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1600					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S1600S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGTCCAGGGCGCTCTGCATGG	0.527000													7	234					0	0	0.003080	0	0
CCDC73	493860	broad.mit.edu	37	11	32636029	32636029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:32636029T>C	ENST00000335185.5	-	16	1878	c.1835A>G	c.(1834-1836)gAa>gGa	p.E612G		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	612								p.E612G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TAGAGCATGTTCTCGAGTCCC	0.333000													11	31					0	0	0.010729	0	0
OR5T2	219464	broad.mit.edu	37	11	56000426	56000426	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:56000426A>C	ENST00000313264.4	-	1	311	c.236T>G	c.(235-237)aTg>aGg	p.M79R		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M79R(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAAATTTCCCATGAGAGTGAA	0.408000													11	69					0	0	0.010729	0	0
FSTL5	56884	broad.mit.edu	37	4	162577586	162577586	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr4:162577586C>T	ENST00000306100.5	-	7	1224	c.788G>A	c.(787-789)gGa>gAa	p.G263E	FSTL5_ENST00000536695.1_Missense_Mutation_p.G262E|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.G262E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G262E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	263	Ig-like 1.					extracellular region	calcium ion binding	p.G263E(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGCACTTTGTCCCACAGTTGC	0.403000													4	52					0	0	0.001168	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045408	76045408	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr14:76045408C>A	ENST00000238667.4	+	1	449	c.93C>A	c.(91-93)ccC>ccA	p.P31P	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	31	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.P31P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGGTCCATCCCAGCGTCTCGG	0.642000													38	38					3.33393e-15	5.16332e-15	0.021022	1	0
MAP10	54627	broad.mit.edu	37	1	232941882	232941882	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:232941882G>T	ENST00000418460.1	+	1	1240	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D		NM_019090.2	NP_061963.2			microtubule-associated protein 10									p.E371D(2)									GCCCAAAAGAGGCTGATAAGC	0.542000													12	149					0.00010058	0.000120536	0.013537	1	0
ANK1	286	broad.mit.edu	37	8	41572528	41572528	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:41572528A>T	ENST00000396942.1	-	15	1750	c.1667T>A	c.(1666-1668)cTg>cAg	p.L556Q	ANK1_ENST00000396945.1_Missense_Mutation_p.L556Q|ANK1_ENST00000352337.4_Missense_Mutation_p.L556Q|ANK1_ENST00000265709.8_Missense_Mutation_p.L589Q|ANK1_ENST00000289734.7_Missense_Mutation_p.L556Q|ANK1_ENST00000347528.4_Missense_Mutation_p.L556Q|ANK1_ENST00000379758.2_Missense_Mutation_p.L556Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	556	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.L589Q(1)|p.L556Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCCCGCTCCAGCAGCAGCTC	0.607000													7	71					0	0	0.003080	0	0
ADAM11	4185	broad.mit.edu	37	17	42850753	42850753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:42850753G>A	ENST00000200557.6	+	11	1119	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	ADAM11_ENST00000535346.1_Missense_Mutation_p.R117Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	317	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R317Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTCTACCGACGGGAGGGTCTG	0.622000													4	49					0	0	0.014758	0	0
SYT3	84258	broad.mit.edu	37	19	51133135	51133135	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:51133135G>T	ENST00000338916.4	-	3	1601	c.968C>A	c.(967-969)gCc>gAc	p.A323D	SYT3_ENST00000600079.1_Missense_Mutation_p.A323D|SYT3_ENST00000544769.1_Missense_Mutation_p.A323D|SYT3_ENST00000593901.1_Missense_Mutation_p.A323D	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	323	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.A323D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTCCAGGGCCTGCAGGAT	0.617000													5	86					0.00116845	0.00130693	0.001168	1	0
FLG	2312	broad.mit.edu	37	1	152279939	152279939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:152279939C>A	ENST00000368799.1	-	3	7458	c.7423G>T	c.(7423-7425)Gga>Tga	p.G2475*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2475*(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)			TAGTGGGATCCCTGCCTTCCT	0.582000									Ichthyosis				209	331					7.99439e-90	1.37176e-89	0.014410	1	0
CD93	22918	broad.mit.edu	37	20	23066732	23066732	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr20:23066732C>G	ENST00000246006.4	-	1	245	c.98G>C	c.(97-99)gGg>gCg	p.G33A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	33	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.G33A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGGCGGTCCCCACGCAGAC	0.697000													7	7					0	0	0.006214	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090841	91090841	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:91090841C>A	ENST00000373094.1	+	1	1183	c.338C>A	c.(337-339)gCc>gAc	p.A113D	PCDH11X_ENST00000361655.2_Missense_Mutation_p.A113D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A113D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A113D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A113D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	113	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.A113D(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGGAGGTTGCCATTTTGCCG	0.398000													23	98					2.81731e-10	3.97584e-10	0.010818	1	0
HTR1D	3352	broad.mit.edu	37	1	23520467	23520467	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:23520467G>T	ENST00000374619.1	-	1	755	c.246C>A	c.(244-246)acC>acA	p.T82T	HTR1D_ENST00000314113.3_Silent_p.T82T	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	82					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.T82T(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGAGGTCGGTGGTGGCCAGGG	0.537000													17	87					1.01871e-10	1.47201e-10	0.008871	1	0
KCNH7	90134	broad.mit.edu	37	2	163693088	163693088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:163693088G>T	ENST00000332142.5	-	2	365	c.266C>A	c.(265-267)tCa>tAa	p.S89*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.S89*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	89					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.S89*(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCTCTCTTCTGACCCCAGCAA	0.443000													7	35					5.4927e-09	7.43855e-09	0.004482	1	0
H6PD	9563	broad.mit.edu	37	1	9323676	9323676	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:9323676A>T	ENST00000377403.2	+	5	1426	c.1124A>T	c.(1123-1125)aAc>aTc	p.N375I	H6PD_ENST00000602477.1_Missense_Mutation_p.N386I	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	375	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	p.N375I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTGTTCAAGAACCAGGCCTGC	0.622000													17	46					0	0	0.004007	0	0
CTSG	1511	broad.mit.edu	37	14	25044575	25044575	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr14:25044575G>T	ENST00000216336.2	-	2	135	c.99C>A	c.(97-99)ccC>ccA	p.P33P		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	33	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.P33P(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACGCCATGTAGGGGCGGGAGT	0.572000													53	66					1.19553e-41	2.02837e-41	0.014410	1	0
FMN2	56776	broad.mit.edu	37	1	240370635	240370635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:240370635C>A	ENST00000319653.9	+	5	2753	c.2523C>A	c.(2521-2523)caC>caA	p.H841Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	841	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	p.H984Q(1)		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)			AAACCAGCCACGAACACTCTG	0.562000													7	74					5.18039e-06	6.46479e-06	0.003080	1	0
CXorf66	347487	broad.mit.edu	37	X	139038879	139038879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:139038879C>A	ENST00000370540.1	-	3	285	c.262G>T	c.(262-264)Gca>Tca	p.A88S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	88						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GACTTGGCTGCTATGCCTTTT	0.388000													5	128					5.9392e-07	7.66512e-07	0.001168	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581504	140581504	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:140581504G>T	ENST00000354757.3	+	1	2157	c.2157G>T	c.(2155-2157)gcG>gcT	p.A719A	PCDHB11_ENST00000536699.1_Silent_p.A354A	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A719A(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.652000													46	82					2.22293e-35	3.75042e-35	0.014410	1	0
FRMPD4	9758	broad.mit.edu	37	X	12735649	12735649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:12735649G>C	ENST00000380682.1	+	16	3210	c.2704G>C	c.(2704-2706)Gag>Cag	p.E902Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	902					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.E892Q(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTATAGTCCTGAGTCTTCGTC	0.453000													4	119					0	0	0.009096	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326709	89326709	+	RNA	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:89326709C>A	ENST00000483158.1	-	0	350																											ACTGCAAAATCTTCAGGCTCT	0.498000													11	68					1.61879e-10	2.30601e-10	0.013537	1	0
KPRP	448834	broad.mit.edu	37	1	152732100	152732100	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:152732100G>T	ENST00000368773.1	+	2	94	c.36G>T	c.(34-36)ccG>ccT	p.P12P	KPRP_ENST00000606109.1_Silent_p.P12P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	12	Gln-rich.					cytoplasm		p.P12P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCCTGCCGCTCCAACAGT	0.582000													37	55					1.04594e-18	1.63665e-18	0.006230	1	0
GPR111	222611	broad.mit.edu	37	6	47647951	47647951	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:47647951T>A	ENST00000398742.2	+	4	461	c.412T>A	c.(412-414)Tgg>Agg	p.W138R	GPR111_ENST00000296862.1_Missense_Mutation_p.W206R|GPR111_ENST00000507065.1_Missense_Mutation_p.W138R			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	206					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W206R(1)|p.W138R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGTCTCCCTGGATACCAGG	0.423000													23	100					0	0	0.004656	0	0
TLR4	7099	broad.mit.edu	37	9	120474988	120474988	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr9:120474988C>G	ENST00000355622.6	+	3	683	c.582C>G	c.(580-582)gaC>gaG	p.D194E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D154E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	194					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D194E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATTGCACAGACTTGCGGGTTC	0.388000													21	62					0	0	0.014323	0	0
ITGB4	3691	broad.mit.edu	37	17	73748568	73748568	+	Missense_Mutation	SNP	G	G	T	rs140930313		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:73748568G>T	ENST00000200181.3	+	32	4205	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	ITGB4_ENST00000579662.1_Missense_Mutation_p.G1340W|ITGB4_ENST00000449880.2_Missense_Mutation_p.G1340W|ITGB4_ENST00000339591.3_Missense_Mutation_p.G1340W|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.G1340W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1340					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.G1340W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCCAGAGCGGGGAGGACTA	0.652000													9	75					0.00829132	0.00897483	0.008291	1	0
MTMR14	64419	broad.mit.edu	37	3	9726311	9726311	+	Missense_Mutation	SNP	G	G	T	rs121434509		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:9726311G>T	ENST00000296003.4	+	11	1129	c.1007G>T	c.(1006-1008)cGg>cTg	p.R336L	MTMR14_ENST00000420925.1_Missense_Mutation_p.R90L|MTMR14_ENST00000351233.5_Missense_Mutation_p.R336L|MTMR14_ENST00000353332.5_Missense_Mutation_p.R336L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	336			R -> Q (in a ADCNM patient; drastically reduced enzymatic activity).			perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.R336L(1)		breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GGCTGGGATCGGACCCCCCTC	0.577000													19	48					1.55795e-14	2.38832e-14	0.012319	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128482	68128482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:68128482G>A	ENST00000585558.1	+	4	747	c.359G>A	c.(358-360)tGg>tAg	p.W120*	KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.W124*			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	85					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.W85*(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ATTCTCTCGTGGTTGATATTT	0.418000													8	92					0	0	0.004482	0	0
SETX	23064	broad.mit.edu	37	9	135224674	135224674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr9:135224674G>T	ENST00000372169.2	-	3	324	c.142C>A	c.(142-144)Cac>Aac	p.H48N	SETX_ENST00000224140.5_Missense_Mutation_p.H48N|SETX_ENST00000393220.1_Missense_Mutation_p.H48N			Q7Z333	SETX_HUMAN	senataxin	48					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.H48N(1)		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)		CTTGCTTTGTGGTACTCAGCC	0.438000													15	48					7.93312e-07	1.01089e-06	0.020292	1	0
MGAM	8972	broad.mit.edu	37	7	141730170	141730170	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:141730170G>T	ENST00000475668.2	+	11	1284	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H	MGAM_ENST00000549489.2_Missense_Mutation_p.Q410H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	410	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.Q410H(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGATGTTCAGCATGCTGATA	0.328000													7	31					0.000157383	0.000184941	0.003080	1	0
SYTL4	94121	broad.mit.edu	37	X	99955913	99955913	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chrX:99955913C>G	ENST00000372981.1	-	5	705	c.519G>C	c.(517-519)caG>caC	p.Q173H	SYTL4_ENST00000263033.5_Missense_Mutation_p.Q173H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q173H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q173H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q173H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q173H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	173					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.Q173H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGCCGCTCCTGAATGATCT	0.393000													8	137					0	0	0.004482	0	0
ALG10	84920	broad.mit.edu	37	12	34179553	34179553	+	Silent	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:34179553A>T	ENST00000266483.2	+	3	1444	c.1125A>T	c.(1123-1125)ccA>ccT	p.P375P	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	375					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.P375P(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGTTAGTTCCAGCCTATATAT	0.299000													34	88					0	0	0.013726	0	0
MSH4	4438	broad.mit.edu	37	1	76345780	76345780	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:76345780A>G	ENST00000263187.3	+	13	1827	c.1723A>G	c.(1723-1725)Att>Gtt	p.I575V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	575					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.I575V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGCAGATTTAATTAAAATGAA	0.274000								Mismatch excision repair (MMR)					11	39					0	0	0.003163	0	0
TNNT3	7140	broad.mit.edu	37	11	1955213	1955213	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:1955213A>T	ENST00000381558.1	+	10	596	c.317A>T	c.(316-318)gAg>gTg	p.E106V	TNNT3_ENST00000381548.3_Missense_Mutation_p.E116V|TNNT3_ENST00000381589.3_Missense_Mutation_p.E112V|TNNT3_ENST00000381549.3_Missense_Mutation_p.E106V|TNNT3_ENST00000397301.1_Missense_Mutation_p.E125V|TNNT3_ENST00000397304.2_Missense_Mutation_p.E95V|TNNT3_ENST00000381579.3_Missense_Mutation_p.E106V|TNNT3_ENST00000278317.6_Missense_Mutation_p.E114V|TNNT3_ENST00000381561.4_Missense_Mutation_p.E117V|TNNT3_ENST00000360603.3_Missense_Mutation_p.E108V|TNNT3_ENST00000446240.1_Missense_Mutation_p.E95V|TNNT3_ENST00000493234.1_3'UTR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	125					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.E114V(1)|p.E112V(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCAGAGAAGGAGAGGGAGCGC	0.652000													5	23					0	0	0.001168	0	0
C2orf16	84226	broad.mit.edu	37	2	27805277	27805277	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:27805277T>C	ENST00000408964.2	+	1	5889	c.5838T>C	c.(5836-5838)ccT>ccC	p.P1946P		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1946										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAGTTTCCCTGGAGAGAGGC	0.542000													3	103					0	0	0.004672	0	0
COL19A1	1310	broad.mit.edu	37	6	70916660	70916660	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:70916660T>C	ENST00000322773.4	+	50	3381	c.3279T>C	c.(3277-3279)agT>agC	p.S1093S	COL19A1_ENST00000393344.1_Silent_p.S715S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1093	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.S1093S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGCCAGGGAGTCCAGGTCTTC	0.443000													9	18					0	0	0.010729	0	0
CEP44	80817	broad.mit.edu	37	4	175220304	175220304	+	Missense_Mutation	SNP	G	G	A	rs73011419	byFrequency	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr4:175220304G>A	ENST00000503780.1	+	3	446	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	CEP44_ENST00000296519.4_Missense_Mutation_p.R11Q|CEP44_ENST00000457424.2_Missense_Mutation_p.R11Q|CEP44_ENST00000426172.1_Missense_Mutation_p.R11Q	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	11						centrosome|midbody|spindle pole		p.R11Q(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AGAAGCTTACGGAACCTAGAA	0.373000													6	52					0	0	0.001984	0	0
ARID1A	8289	broad.mit.edu	37	1	27106495	27106495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:27106495G>T	ENST00000324856.7	+	20	6477	c.6106G>T	c.(6106-6108)Gaa>Taa	p.E2036*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1819*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1653*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E364*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2036					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E2036*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAAGGAGGAGGAACAGGACCA	0.562000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	52					0.00024832	0.000288433	0.009096	1	0
COL22A1	169044	broad.mit.edu	37	8	139611019	139611019	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr8:139611019C>T	ENST00000303045.6	-	61	4754	c.4308G>A	c.(4306-4308)gaG>gaA	p.E1436E	COL22A1_ENST00000435777.1_Silent_p.E1416E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1436	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.E1436E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGTCCATTCTCCCCAGGTA	0.622000										HNSCC(7;0.00092)			41	54					0	0	0.007835	0	0
MMP3	4314	broad.mit.edu	37	11	102709383	102709383	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:102709383G>A	ENST00000299855.5	-	8	1384	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	376	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.I376I(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTAGGGTGTGGATGCCTCTTG	0.383000													12	72					0	0	0.013537	0	0
LSP1	4046	broad.mit.edu	37	11	1905191	1905191	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:1905191C>A	ENST00000406638.2	+	5	1644	c.342C>A	c.(340-342)ccC>ccA	p.P114P	LSP1_ENST00000381775.1_Silent_p.P304P|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Silent_p.P176P|LSP1_ENST00000405957.2_Silent_p.P114P	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	176					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.P176P(1)|p.P114P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CCAGGACACCCAGCCCCTTGG	0.572000													23	106					1.85244e-09	2.56623e-09	0.018920	1	0
SKIV2L	6499	broad.mit.edu	37	6	31935558	31935558	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:31935558G>T	ENST00000375394.2	+	22	2763	c.2650G>T	c.(2650-2652)Gac>Tac	p.D884Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.D691Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	884						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.D884Y(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTTGTCCCAGGACCCACAGGA	0.592000													16	70					4.7546e-09	6.46797e-09	0.004007	1	0
IFNLR1	163702	broad.mit.edu	37	1	24484070	24484070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:24484070C>A	ENST00000327535.1	-	7	1125	c.1113G>T	c.(1111-1113)agG>agT	p.R371S	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.R342S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1									p.R371S(1)									CCAGAGGAGCCCTGGGCCTCC	0.627000													8	33					7.48243e-07	9.57497e-07	0.006214	1	0
ACSM2B	348158	broad.mit.edu	37	16	20548643	20548643	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr16:20548643T>G	ENST00000329697.6	-	14	1839	c.1671A>C	c.(1669-1671)aaA>aaC	p.K557N	ACSM2B_ENST00000567001.1_Missense_Mutation_p.K557N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.K557N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.K478N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	557					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.K557N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTCGTTGAATTTTCCCTGTGA	0.473000													65	222					0	0	0.014410	0	0
MAP2	4133	broad.mit.edu	37	2	210557723	210557723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:210557723G>T	ENST00000360351.4	+	7	1335	c.829G>T	c.(829-831)Gag>Tag	p.E277*	MAP2_ENST00000447185.1_Nonsense_Mutation_p.E273*|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	277			E -> D (in a colorectal cancer sample; somatic mutation).		central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.E277*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAAAAGGATGAGTGGGGTTT	0.458000													8	58					0.00307968	0.00341935	0.003080	1	0
KIF4B	285643	broad.mit.edu	37	5	154394152	154394152	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:154394152G>C	ENST00000435029.4	+	1	893	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	245	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCTGGATCAGAAAGACAGAA	0.428000													3	78					0	0	0.004672	0	0
GADD45A	1647	broad.mit.edu	37	1	68153432	68153432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:68153432C>T	ENST00000370986.4	+	4	907	c.473C>T	c.(472-474)cCa>cTa	p.P158L	GADD45A_ENST00000370985.3_Missense_Mutation_p.P124L	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	158					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding	p.P158L(1)		lung(2)|ovary(2)	4						CAATGGGTTCCAGTGATTAAT	0.388000													8	77					0	0	0.003080	0	0
ESPL1	9700	broad.mit.edu	37	12	53663492	53663492	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:53663492T>C	ENST00000257934.4	+	3	857	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L	ESPL1_ENST00000552462.1_Silent_p.L256L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	256					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.L256L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGCTCACCTTGGAACACTG	0.587000													5	93					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179641023	179641023	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:179641023C>G	ENST00000589042.1	-	28	5792	c.5568G>C	c.(5566-5568)gaG>gaC	p.E1856D	TTN_ENST00000359218.5_Missense_Mutation_p.E1810D|TTN_ENST00000342175.6_Missense_Mutation_p.E1810D|TTN_ENST00000591111.1_Missense_Mutation_p.E1856D|TTN_ENST00000342992.6_Missense_Mutation_p.E1856D|TTN_ENST00000460472.2_Missense_Mutation_p.E1810D|TTN_ENST00000360870.5_Missense_Mutation_p.E1856D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1571	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E1810D(3)|p.E1856D(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTGCAGTCTCCCCTTCAA	0.483000													7	153					0	0	0.003080	0	0
CARD14	79092	broad.mit.edu	37	17	78176159	78176159	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:78176159G>A	ENST00000573882.1	+	17	2695	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	CARD14_ENST00000392434.2_Missense_Mutation_p.A441T|CARD14_ENST00000570421.1_Missense_Mutation_p.R720H|CARD14_ENST00000344227.2_Missense_Mutation_p.R720H|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	720					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.R720H(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATGCCCACCGCGTGAACTCT	0.637000													10	25					0	0	0.008291	0	0
ITGA8	8516	broad.mit.edu	37	10	15688902	15688902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:15688902C>A	ENST00000378076.3	-	12	1503	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	384					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G384L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCGAATCTCCCAAACGTCTCG	0.483000													17	41					0.00741294	0.0080529	0.007413	1	0
ELP4	26610	broad.mit.edu	37	11	31648724	31648724	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:31648724G>C	ENST00000395934.2	+	6	728	c.721G>C	c.(721-723)Gat>Cat	p.D241H	ELP4_ENST00000350638.5_Missense_Mutation_p.D241H|ELP4_ENST00000379163.5_Missense_Mutation_p.D242H			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	241					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGAAGGATTTGATGGATCCAA	0.378000													3	80					0	0	0.004672	0	0
SCAND3	114821	broad.mit.edu	37	6	28541214	28541214	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr6:28541214T>A	ENST00000452236.2	-	4	3069	c.2452A>T	c.(2452-2454)Agt>Tgt	p.S818C		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	818					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.S818C(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cgcaaagcactaatgtttata	0.368000													50	130					0	0	0.014410	0	0
ITGA8	8516	broad.mit.edu	37	10	15688901	15688901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:15688901C>A	ENST00000378076.3	-	12	1504	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	384					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G384L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCGAATCTCCCAAACGTCTC	0.483000													18	40					0.00121646	0.00135561	0.008871	1	0
PCDHA8	56140	broad.mit.edu	37	5	140220966	140220966	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr5:140220966C>A	ENST00000531613.1	+	1	60	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L20L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1												p.L20L(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTCTGCTCCTCGCAGCCT	0.557000													17	41					1.99824e-07	2.62377e-07	0.004990	1	0
UROC1	131669	broad.mit.edu	37	3	126202291	126202291	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:126202291C>G	ENST00000290868.2	-	19	1864	c.1811G>C	c.(1810-1812)gGa>gCa	p.G604A	UROC1_ENST00000383579.3_Missense_Mutation_p.G664A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	604					histidine catabolic process	cytosol	urocanate hydratase activity	p.G604A(1)|p.G664A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGGCCGAATCCCCCGTTGAT	0.607000													3	25					0	0	0.004672	0	0
EXOC4	60412	broad.mit.edu	37	7	133622733	133622733	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:133622733A>T	ENST00000253861.4	+	14	2146	c.2117A>T	c.(2116-2118)gAc>gTc	p.D706V	EXOC4_ENST00000541309.1_5'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.D316V|EXOC4_ENST00000539845.1_Missense_Mutation_p.D605V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	706					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	p.D706V(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GACGTCAGTGACCTCAAAGCC	0.453000													30	73					0	0	0.008361	0	0
CDK17	5128	broad.mit.edu	37	12	96688884	96688884	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr12:96688884A>G	ENST00000261211.3	-	10	1493	c.890T>C	c.(889-891)aTt>aCt	p.I297T	CDK17_ENST00000543119.2_Missense_Mutation_p.I297T|CDK17_ENST00000542666.1_Missense_Mutation_p.I244T|CDK17_ENST00000553042.1_5'UTR	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	297	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity	p.I297T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACCACGTAGAATTTGGTACAG	0.348000													7	62					0	0	0.001984	0	0
ARID1A	8289	broad.mit.edu	37	1	27106483	27106483	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:27106483G>A	ENST00000324856.7	+	20	6465	c.6094G>A	c.(6094-6096)Gaa>Aaa	p.E2032K	ARID1A_ENST00000457599.2_Missense_Mutation_p.E1815K|ARID1A_ENST00000374152.2_Missense_Mutation_p.E1649K|ARID1A_ENST00000540690.1_Missense_Mutation_p.E360K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2032					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E2032K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACTAACTTATGAAAAGGAGGA	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	48					0	0	0.009096	0	0
TRBV30	28557	broad.mit.edu	37	7	142510501	142510501	+	RNA	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:142510501C>A	ENST00000417977.2	-	0	216																											CCAGAGAGAGCGGGCTGCCCA	0.572000													5	12					0.00116845	0.00130693	0.001168	1	0
FRYL	285527	broad.mit.edu	37	4	48583536	48583536	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr4:48583536C>T	ENST00000537810.1	-	21	2677	c.2073G>A	c.(2071-2073)gcG>gcA	p.A691A	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Silent_p.A397A|FRYL_ENST00000503238.1_Silent_p.A691A|FRYL_ENST00000358350.4_Silent_p.A691A|FRYL_ENST00000507711.1_Silent_p.A691A			O94915	FRYL_HUMAN	FRY-like	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.A691A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAATGACAAGCGCAAAGCCTT	0.468000													4	50					0	0	0.009096	0	0
TRIM22	10346	broad.mit.edu	37	11	5730336	5730336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:5730336G>T	ENST00000379965.3	+	8	1232	c.955G>T	c.(955-957)Gat>Tat	p.D319Y	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	319	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.D319Y(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATTTCTGTGGATCAGAGACA	0.418000													13	95					5.50884e-06	6.81831e-06	0.013537	1	0
ADCY10	55811	broad.mit.edu	37	1	167787447	167787447	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:167787447G>C	ENST00000367848.1	-	31	4566	c.4069C>G	c.(4069-4071)Ctt>Gtt	p.L1357V	ADCY10_ENST00000545172.1_Missense_Mutation_p.L1296V|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1449V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1449					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.L1449I(1)|p.L1449V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTTGGCAAAAGATTTTTAGCT	0.373000													5	109					0	0	0.014758	0	0
ZNF79	7633	broad.mit.edu	37	9	130198191	130198191	+	Silent	SNP	T	T	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr9:130198191T>G	ENST00000342483.5	+	4	643	c.237T>G	c.(235-237)ctT>ctG	p.L79L	ZNF79_ENST00000543471.1_Silent_p.L55L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L79L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAATAGGACTTCCAGTTTCCC	0.507000													13	97					0	0	0.004990	0	0
EGFR	1956	broad.mit.edu	37	7	55249007	55249007	+	Missense_Mutation	SNP	G	G	T	rs147149347		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:55249007G>T	ENST00000275493.2	+	20	2482	c.2305G>T	c.(2305-2307)Gtg>Ttg	p.V769L	EGFR_ENST00000455089.1_Missense_Mutation_p.V724L|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.V716L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	769	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V769L(3)|p.S768_V769>IL(1)|p.V769M(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATGGCCAGCGTGGACAACCC	0.637000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			19	77					3.28513e-13	4.93586e-13	0.021523	1	0
COL16A1	1307	broad.mit.edu	37	1	32145269	32145269	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:32145269G>T	ENST00000373672.3	-	42	3252	c.2736C>A	c.(2734-2736)ccC>ccA	p.P912P	COL16A1_ENST00000271069.6_Silent_p.P911P|COL16A1_ENST00000373668.3_Silent_p.P896P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	912	Triple-helical region 4 (COL4) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.P912P(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGTGGTCCGGGAATACCTG	0.617000													7	116					5.18039e-06	6.4813e-06	0.003080	1	0
TULP1	7287	broad.mit.edu	37	6	35466187	35466187	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:35466187G>T	ENST00000229771.6	-	15	1625	c.1546C>A	c.(1546-1548)Cta>Ata	p.L516I	TULP1_ENST00000322263.4_Missense_Mutation_p.L463I	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	516					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	p.L516I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGTAGTCTAGGGTGAAGGCG	0.677000													4	26					0.00116845	0.00130922	0.001168	1	0
EPDR1	54749	broad.mit.edu	37	7	37988642	37988642	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:37988642C>G	ENST00000199448.4	+	2	849	c.470C>G	c.(469-471)gCt>gGt	p.A157G	EPDR1_ENST00000559325.1_Missense_Mutation_p.A277G|EPDR1_ENST00000476620.1_Missense_Mutation_p.A55G|EPDR1_ENST00000425345.1_Missense_Mutation_p.A96G|EPDR1_ENST00000423717.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	157					cell-matrix adhesion	extracellular region	calcium ion binding	p.A277G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGAAAGTCAGCTAGATCCTGT	0.463000													20	33					0	0	0.007413	0	0
GABRA6	2559	broad.mit.edu	37	5	161116336	161116336	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:161116336G>C	ENST00000523217.1	+	5	735	c.493G>C	c.(493-495)Ggg>Cgg	p.G165R	GABRA6_ENST00000274545.5_Missense_Mutation_p.G175R|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	175					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.G175R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTCAAGTTTGGGAGCTGTAA	0.383000										TCGA Ovarian(5;0.080)			15	71					0	0	0.003163	0	0
DMWD	1762	broad.mit.edu	37	19	46289666	46289666	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:46289666C>G	ENST00000270223.6	-	3	1133	c.1088G>C	c.(1087-1089)cGa>cCa	p.R363P	DMWD_ENST00000377735.3_Missense_Mutation_p.R363P	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	363					meiosis			p.R363P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCATGGCCTCGAGCCACCAC	0.667000													14	56					0	0	0.004990	0	0
QPCTL	54814	broad.mit.edu	37	19	46196733	46196733	+	Silent	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:46196733A>T	ENST00000012049.5	+	2	491	c.270A>T	c.(268-270)ccA>ccT	p.P90P	QPCTL_ENST00000366382.4_Silent_p.P90P	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	90					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	p.P90P(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AACTGGATCCACAGCGTCTCT	0.607000											OREG0025560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	92					0	0	0.006122	0	0
FCGBP	8857	broad.mit.edu	37	19	40368760	40368760	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:40368760G>C	ENST00000221347.6	-	28	12595	c.12588C>G	c.(12586-12588)gaC>gaG	p.D4196E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4196	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGTTCCAGTCATAGCTGA	0.612000													4	141					0	0	0.001984	0	0
CACNA1E	777	broad.mit.edu	37	1	181753820	181753820	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:181753820G>T	ENST00000526775.1	+	40	5602	c.5437G>T	c.(5437-5439)Gac>Tac	p.D1813Y	CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1832Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1813Y|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D1439Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1783Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1764Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1832Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1832					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1832Y(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCAGCTAGACTCAGAGCT	0.483000													3	6					0.004672	0.00513184	0.004672	1	0
TTC40	54777	broad.mit.edu	37	10	134660763	134660763	+	Silent	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:134660763T>A	ENST00000368586.5	-	42	6115	c.6015A>T	c.(6013-6015)acA>acT	p.T2005T	TTC40_ENST00000263170.5_Silent_p.T166T	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	166								p.T166T(1)|p.T2005T(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGCTGGACTTTGTGGCACCCT	0.657000													23	61					0	0	0.003330	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984897	90984897	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr15:90984897T>C	ENST00000268182.5	+	8	933	c.809T>C	c.(808-810)aTg>aCg	p.M270T	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	270					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.M270T(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAGGACAAAATGACAAATGCT	0.348000													8	41					0	0	0.003080	0	0
OPRL1	4987	broad.mit.edu	37	20	62729693	62729693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr20:62729693C>A	ENST00000349451.3	+	6	1066	c.654C>A	c.(652-654)tgC>tgA	p.C218*	OPRL1_ENST00000355631.4_Nonsense_Mutation_p.C218*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.C218*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	218					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.C218*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCATCTGCATCTTCCTCT	0.622000													37	48					1.04352e-10	1.5085e-10	0.003755	1	0
BEST3	144453	broad.mit.edu	37	12	70048953	70048953	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:70048953C>G	ENST00000330891.5	-	10	1967	c.1741G>C	c.(1741-1743)Gac>Cac	p.D581H	BEST3_ENST00000488961.1_Missense_Mutation_p.D368H|BEST3_ENST00000553096.1_Missense_Mutation_p.D475H|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	581						chloride channel complex|plasma membrane	chloride channel activity	p.D581H(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCACCAGGGTCTTCTTCACAG	0.532000													3	36					0	0	0.004672	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615910	140615910	+	RNA	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:140615910A>G	ENST00000526308.1	+	0	1973					NR_001281.1													p.D542G(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTGGACGGCGACTCGGGCCAG	0.721000													13	33					0	0	0.001855	0	0
ANK2	287	broad.mit.edu	37	4	114278606	114278606	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr4:114278606C>A	ENST00000357077.4	+	38	8885	c.8832C>A	c.(8830-8832)acC>acA	p.T2944T	ANK2_ENST00000264366.6_Silent_p.T2911T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2911					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T2944T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAGCAAAACCCAAACAGATG	0.408000													72	155					5.89852e-23	9.6805e-23	0.014410	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926814	130926814	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:130926814G>A	ENST00000261655.4	-	8	1195	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	RIMBP2_ENST00000536002.1_Silent_p.L252L|RIMBP2_ENST00000535703.1_Silent_p.L252L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	344	Fibronectin type-III 1.					cell junction|synapse		p.L344L(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCCCAGCGTGAGGTTCATGC	0.612000													10	76					0	0	0.008291	0	0
PCDH19	57526	broad.mit.edu	37	X	99663168	99663168	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:99663168C>A	ENST00000373034.4	-	1	2103	c.428G>T	c.(427-429)aGc>aTc	p.S143I	PCDH19_ENST00000255531.7_Missense_Mutation_p.S143I|PCDH19_ENST00000420881.2_Missense_Mutation_p.S143I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	143	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S143I(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGTGCCAGGGCTGGCTGCCTC	0.592000													5	78					8.12818e-05	9.81716e-05	0.001984	1	0
TEX101	83639	broad.mit.edu	37	19	43920644	43920644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:43920644G>C	ENST00000602198.1	+	6	824	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TEX101_ENST00000598265.1_Missense_Mutation_p.E110Q|TEX101_ENST00000253435.7_Missense_Mutation_p.E128Q|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	110						anchored to membrane|plasma membrane		p.E128Q(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TAACTACTGTGAGGATTCCTT	0.527000													10	279					0	0	0.013537	0	0
RAPH1	65059	broad.mit.edu	37	2	204309641	204309641	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:204309641C>T	ENST00000319170.5	-	13	2025	c.1726G>A	c.(1726-1728)Gta>Ata	p.V576I	RAPH1_ENST00000374488.2_Missense_Mutation_p.V601I|RAPH1_ENST00000374489.2_Missense_Mutation_p.V603I|RAPH1_ENST00000308091.4_Missense_Mutation_p.V628I|RAPH1_ENST00000439222.1_Missense_Mutation_p.V601I|RAPH1_ENST00000423104.1_Missense_Mutation_p.V603I|RAPH1_ENST00000457812.1_Missense_Mutation_p.V576I|RAPH1_ENST00000374493.3_Missense_Mutation_p.V628I|RAPH1_ENST00000453034.1_Missense_Mutation_p.V628I|RAPH1_ENST00000419464.1_Missense_Mutation_p.V576I|RAPH1_ENST00000418114.1_Missense_Mutation_p.V576I	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	576					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCAGAGAATACGGAGCTCACA	0.463000													4	104					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	44					1.96292e-10	2.79416e-10	0.010504	1	0
DISP2	85455	broad.mit.edu	37	15	40660665	40660665	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr15:40660665C>A	ENST00000267889.3	+	8	2439	c.2352C>A	c.(2350-2352)ggC>ggA	p.G784G		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	784					smoothened signaling pathway	integral to membrane		p.G784G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGACACTGGCGACCCTCTGG	0.682000													13	58					0.000151284	0.000181152	0.001855	1	0
FSCB	84075	broad.mit.edu	37	14	44973895	44973895	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr14:44973895C>A	ENST00000340446.4	-	1	2587	c.2296G>T	c.(2296-2298)Gca>Tca	p.A766S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	766						cilium		p.A766S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAATTCCTGCCACCTGCGGT	0.423000													43	107					9.82405e-12	1.45022e-11	0.014410	1	0
SIRPD	128646	broad.mit.edu	37	20	1517840	1517840	+	Missense_Mutation	SNP	C	C	T	rs143061754		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr20:1517840C>T	ENST00000381623.3	-	3	1727	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	SIRPD_ENST00000381621.1_Missense_Mutation_p.V181I			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	180						extracellular region		p.V180I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGGTTGGACGAAATAGTTT	0.612000													4	82					0	0	0.009096	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													4	202					0	0	0.000602	0	0
MYH3	4621	broad.mit.edu	37	17	10535949	10535949	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:10535949G>A	ENST00000583535.1	-	34	4887	c.4800C>T	c.(4798-4800)agC>agT	p.S1600S	MYH3_ENST00000226209.7_Silent_p.S1600S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1600					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S1600S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGTCCAGGGCGCTCTGCATGG	0.527000													7	234					0	0	0.003080	0	0
VWA3B	200403	broad.mit.edu	37	2	98744867	98744867	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:98744867A>C	ENST00000477737.1	+	6	1072	c.868A>C	c.(868-870)Agc>Cgc	p.S290R	VWA3B_ENST00000435344.1_Missense_Mutation_p.S290R|VWA3B_ENST00000451075.2_Missense_Mutation_p.S140R	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	290								p.S290R(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAGACCCACAGCAGGTAGGC	0.517000													12	50					0	0	0.001855	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008863	142008863	+	RNA	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:142008863C>G	ENST00000390387.3	+	0	383																											TCTGTGCCAGCAGCCAAGACA	0.537000													9	55					0	0	0.004482	0	0
ZZEF1	23140	broad.mit.edu	37	17	3984731	3984731	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:3984731T>C	ENST00000381638.2	-	18	2892	c.2768A>G	c.(2767-2769)aAg>aGg	p.K923R	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	923							calcium ion binding|zinc ion binding	p.K923R(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATGTTCATCTTGGCCAGGTC	0.498000													28	44					0	0	0.007291	0	0
WDR3	10885	broad.mit.edu	37	1	118494942	118494942	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:118494942C>T	ENST00000349139.4	+	18	1974	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	643						nuclear membrane|nucleolus		p.P643S(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACAGTTTGTACCCAAGTCTCA	0.363000													16	78					0	0	0.004990	0	0
OR2M3	127062	broad.mit.edu	37	1	248366864	248366864	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:248366864C>T	ENST00000456743.1	+	1	533	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165S(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			CAACATTTTCCTTCTCCTACT	0.438000													17	325					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141214102	141214102	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:141214102G>T	ENST00000389484.3	-	62	10856	c.9885C>A	c.(9883-9885)acC>acA	p.T3295T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3295					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T3295T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAAGTGTGGGTTTTTCCAG	0.438000										TSP Lung(27;0.18)			11	53					1.08611e-07	1.44297e-07	0.010729	1	0
GABRQ	55879	broad.mit.edu	37	X	151821552	151821552	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:151821552C>A	ENST00000370306.2	+	9	1727	c.1707C>A	c.(1705-1707)ggC>ggA	p.G569G		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	569						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.G569G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCCATGGCCAAGAGAAGG	0.498000													6	48					0.00116845	0.00130922	0.001168	1	0
CSMD2	114784	broad.mit.edu	37	1	34209109	34209109	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:34209109G>A	ENST00000373381.4	-	14	2121	c.1945C>T	c.(1945-1947)Ctg>Ttg	p.L649L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	609	CUB 4.					integral to membrane|plasma membrane	protein binding	p.L609L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCCTGGCCAGGATGAGCCAG	0.587000													13	52					0	0	0.001855	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179301942	179301942	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:179301942C>T	ENST00000356834.3	-	12	2183	c.2146G>A	c.(2146-2148)Ggc>Agc	p.G716S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.G716S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	716						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	p.G716S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGCTGCAGCCCAGCAGCTGC	0.647000													6	43					0	0	0.001168	0	0
FSCB	84075	broad.mit.edu	37	14	44973896	44973896	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr14:44973896C>A	ENST00000340446.4	-	1	2586	c.2295G>T	c.(2293-2295)gtG>gtT	p.V765V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	765						cilium		p.A766S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAATTCCTGCCACCTGCGGTG	0.428000													42	107					6.87076e-12	1.01965e-11	0.014410	1	0
SMC2	10592	broad.mit.edu	37	9	106901541	106901541	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr9:106901541C>T	ENST00000286398.7	+	25	3827	c.3539C>T	c.(3538-3540)tCa>tTa	p.S1180L	SMC2_ENST00000374793.3_Missense_Mutation_p.S1180L|SMC2_ENST00000374787.3_Missense_Mutation_p.S1180L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1180					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAAAGATTTCAAAGGAAGCA	0.348000													7	42					0	0	0.003080	0	0
LAMB4	22798	broad.mit.edu	37	7	107692568	107692568	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:107692568G>T	ENST00000388781.3	-	26	3973	c.3890C>A	c.(3889-3891)tCc>tAc	p.S1297Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.S1297Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.S1297Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1297	Domain II.				cell adhesion	basement membrane		p.S1297Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAGGACACTGGATTGCAAATC	0.378000													38	149					6.5261e-18	1.02291e-17	0.008740	1	0
FLT1	2321	broad.mit.edu	37	13	29012365	29012365	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr13:29012365A>G	ENST00000282397.4	-	4	757	c.506T>C	c.(505-507)tTa>tCa	p.L169S	FLT1_ENST00000539099.1_Missense_Mutation_p.L169S|FLT1_ENST00000541932.1_Missense_Mutation_p.L169S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	169	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.L169S(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TACCTTTTTTAAAGTAACAGT	0.383000													4	34					0	0	0.000602	0	0
KRT82	3888	broad.mit.edu	37	12	52797658	52797658	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:52797658C>T	ENST00000257974.2	-	2	524	c.447G>A	c.(445-447)gaG>gaA	p.E149E		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	149	Coil 1A.|Rod.					keratin filament	protein binding|structural constituent of epidermis	p.E149E(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TCCACTTGGTCTCCAGCAGCT	0.567000													4	28					0	0	0.009096	0	0
POF1B	79983	broad.mit.edu	37	X	84600895	84600895	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:84600895G>T	ENST00000262753.4	-	6	839	c.694C>A	c.(694-696)Cat>Aat	p.H232N	POF1B_ENST00000373145.3_Missense_Mutation_p.H232N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	232							actin binding	p.H232N(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GATCCACTATGGCACAGTTCA	0.408000													9	127					1.11149e-13	1.70388e-13	0.008291	1	0
MOGAT2	80168	broad.mit.edu	37	11	75431194	75431194	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:75431194G>T	ENST00000198801.5	+	2	319	c.249G>T	c.(247-249)atG>atT	p.M83I	MOGAT2_ENST00000526712.1_Start_Codon_SNP_p.M1I	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	83					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.M83I(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGAAGTACATGAAGGACTATT	0.602000													7	187					0.000157383	0.000186059	0.003080	1	0
TDG	6996	broad.mit.edu	37	12	104373742	104373742	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:104373742C>T	ENST00000392872.3	+	3	534	c.300C>T	c.(298-300)gaC>gaT	p.D100D	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Silent_p.D96D|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	100					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.D100D(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAATTACAGACACATTTAAAG	0.358000								Base excision repair (BER), DNA glycosylases					4	61					0	0	0.000602	0	0
GPR141	353345	broad.mit.edu	37	7	37780032	37780032	+	Missense_Mutation	SNP	G	G	T	rs141399721	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:37780032G>T	ENST00000447769.1	+	4	326	c.37G>T	c.(37-39)Gat>Tat	p.D13Y	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.D13Y			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	13						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D13Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCCTCTTGCGATCCTATAGT	0.468000													50	246					1.19403e-26	1.97122e-26	0.014410	1	0
TNR	7143	broad.mit.edu	37	1	175362997	175362997	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:175362997C>T	ENST00000367674.1	-	6	1983	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	TNR_ENST00000263525.2_Silent_p.T425T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	425	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T425T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCTGTGATCGTCTTAAATT	0.498000													16	200					0	0	0.004007	0	0
NELL2	4753	broad.mit.edu	37	12	45059372	45059372	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:45059372C>A	ENST00000429094.2	-	13	1843	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	NELL2_ENST00000452445.2_Missense_Mutation_p.G447W|NELL2_ENST00000437801.2_Missense_Mutation_p.G497W|NELL2_ENST00000551601.1_Missense_Mutation_p.G446W|NELL2_ENST00000549027.1_Missense_Mutation_p.G446W|NELL2_ENST00000395487.2_Missense_Mutation_p.G446W|NELL2_ENST00000333837.4_Missense_Mutation_p.G470W	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	447	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G447W(1)|p.G497W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TAATGGCGCCCTTCAGCACAC	0.418000													8	43					2.17888e-05	2.678e-05	0.006214	1	0
PREP	5550	broad.mit.edu	37	6	105781267	105781267	+	Missense_Mutation	SNP	C	C	A	rs144257084		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:105781267C>A	ENST00000369110.3	-	8	1129	c.937G>T	c.(937-939)Gtg>Ttg	p.V313L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	313					proteolysis		serine-type endopeptidase activity	p.V313L(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATGTTGATCACGCGATAGTTG	0.443000													4	87					0.00909568	0.00976036	0.009096	1	0
PHF20	51230	broad.mit.edu	37	20	34519298	34519298	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr20:34519298G>C	ENST00000374012.3	+	15	2361	c.2232G>C	c.(2230-2232)caG>caC	p.Q744H	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	744					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.Q744H(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCACCCACCAGCTTCTTGGTG	0.527000													65	45					0	0	0.014410	0	0
ZNF720	124411	broad.mit.edu	37	16	31734594	31734594	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:31734594A>T	ENST00000316491.9	+	3	345	c.146A>T	c.(145-147)aAg>aTg	p.K49M	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000398696.3_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	49	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.K49M(1)		endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GCTGTCTCTAAGCCGGACCTG	0.468000													7	24					0	0	0.004482	0	0
GZMA	3001	broad.mit.edu	37	5	54404187	54404187	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:54404187G>T	ENST00000274306.6	+	4	627	c.592G>T	c.(592-594)Gct>Tct	p.A198S		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	198	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.A198S(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TATGGTTTGTGCTGGAAGCCT	0.378000													7	67					0.000274275	0.000318845	0.004482	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	12					0	0	0.009096	0	0
PLA2R1	22925	broad.mit.edu	37	2	160832630	160832630	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:160832630G>A	ENST00000283243.7	-	17	2750	c.2544C>T	c.(2542-2544)ctC>ctT	p.L848L	PLA2R1_ENST00000392771.1_Silent_p.L848L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	848	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.L848L(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AATGAATTGTGAGAAGATCAC	0.403000													26	81					0	0	0.006320	0	0
ESX1	80712	broad.mit.edu	37	X	103495442	103495442	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:103495442C>T	ENST00000372588.4	-	4	771	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	230					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D230N(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AAAGCAGGATCCAGAGCAGGA	0.552000													11	124					0	0	0.010729	0	0
UNC5D	137970	broad.mit.edu	37	8	35624454	35624454	+	Missense_Mutation	SNP	G	G	A	rs112851152		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:35624454G>A	ENST00000287272.2	+	14	2161	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	UNC5D_ENST00000453357.2_Missense_Mutation_p.R778Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R788Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R359Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R716Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R783Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	783	Interaction with DCC (By similarity).				apoptosis|axon guidance	integral to membrane	receptor activity	p.R778Q(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)		TGCAGTAACCGGCAGCCCCTG	0.587000													5	52					0	0	0.001168	0	0
SORCS3	22986	broad.mit.edu	37	10	106907469	106907469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:106907469C>A	ENST00000369701.3	+	9	1624	c.1397C>A	c.(1396-1398)aCg>aAg	p.T466K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	466						integral to membrane	neuropeptide receptor activity	p.T466K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCTCAGACACGCGTGGGATT	0.448000													10	46					4.68919e-08	6.35089e-08	0.008291	1	0
GGNBP2	79893	broad.mit.edu	37	17	34942353	34942353	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:34942353G>T	ENST00000304718.4	+	11	1766	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	484					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.D484Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGAGGGTTCGGATGTTGCCTG	0.418000													28	93					3.00307e-07	3.93359e-07	0.008361	1	0
EGFR	1956	broad.mit.edu	37	7	55249005	55249005	+	Missense_Mutation	SNP	G	G	T	rs146024686		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:55249005G>T	ENST00000275493.2	+	20	2480	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	EGFR_ENST00000454757.2_Missense_Mutation_p.S715I|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.S723I|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	768	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S768I(24)|p.S768N(1)|p.S768_V769insVAS(1)|p.S768_V769>IL(1)|p.S768T(1)|p.A767_S768insTLA(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGATGGCCAGCGTGGACAAC	0.637000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			19	78					3.28513e-13	4.95433e-13	0.003954	1	0
BAI3	577	broad.mit.edu	37	6	70071278	70071278	+	Silent	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:70071278A>G	ENST00000370598.1	+	29	4934	c.4113A>G	c.(4111-4113)gaA>gaG	p.E1371E	BAI3_ENST00000546190.1_Silent_p.E335E|BAI3_ENST00000238918.8_Silent_p.E577E	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1371					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CACCCCAGGAACATATGCAGA	0.423000													3	107					0	0	0.004672	0	0
SALL1	6299	broad.mit.edu	37	16	51174771	51174771	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:51174771G>A	ENST00000440970.1	-	2	1502	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	SALL1_ENST00000251020.4_Silent_p.C454C|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	454					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGACCTTCGCGCAGAACCTGC	0.512000													4	111					0	0	0.009096	0	0
ABCA6	23460	broad.mit.edu	37	17	67119514	67119514	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:67119514G>A	ENST00000284425.2	-	10	1476	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	434					transport	integral to membrane	ATP binding|ATPase activity	p.F434L(1)|p.F434F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATGAATTCAAGAAAAATAAAG	0.363000													6	32					0	0	0.001168	0	0
PNPLA8	50640	broad.mit.edu	37	7	108119758	108119758	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:108119758T>C	ENST00000426128.2	-	9	1883	c.1758A>G	c.(1756-1758)ccA>ccG	p.P586P	PNPLA8_ENST00000257694.8_Silent_p.P648P|PNPLA8_ENST00000453144.1_Silent_p.P548P|PNPLA8_ENST00000436062.1_Silent_p.P648P|PNPLA8_ENST00000388728.5_Silent_p.P586P|PNPLA8_ENST00000422087.1_Silent_p.P648P	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	648	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.P648P(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ACGGCACATCTGGCCAAAGAC	0.393000													24	61					0	0	0.003330	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703884	7703884	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:7703884C>T	ENST00000340209.4	+	9	1137	c.840C>T	c.(838-840)cgC>cgT	p.R280R	RBFOX1_ENST00000535565.2_Silent_p.R232R|RBFOX1_ENST00000436368.2_Silent_p.R295R|RBFOX1_ENST00000547338.1_Silent_p.R275R|RBFOX1_ENST00000422070.4_Silent_p.R318R|RBFOX1_ENST00000311745.5_Silent_p.R295R|RBFOX1_ENST00000552089.1_Silent_p.R292R|RBFOX1_ENST00000553186.1_Silent_p.R248R|RBFOX1_ENST00000550418.1_Silent_p.R275R|RBFOX1_ENST00000547372.1_Silent_p.R318R|RBFOX1_ENST00000355637.4_Silent_p.R295R			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	275					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.R295R(2)|p.R275R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCGAGGCCGCGGTCGCACCG	0.731000													4	29					0	0	0.009096	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400700	117400700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:117400700A>C	ENST00000160373.3	-	10	3052	c.2961T>G	c.(2959-2961)gaT>gaG	p.D987E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	987								p.D987E(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTCCAAGTCATCAGAACCAT	0.348000													30	134					0	0	0.008361	0	0
ADAM2	2515	broad.mit.edu	37	8	39679167	39679167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:39679167G>T	ENST00000265708.4	-	5	385	c.282C>A	c.(280-282)taC>taA	p.Y94*	ADAM2_ENST00000379853.2_Nonsense_Mutation_p.Y94*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.Y94*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.Y94*|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	94					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATACCCTTGGTAGTGGCAGA	0.299000													3	74					0.00024832	0.00028988	0.009096	1	0
LPPR4	9890	broad.mit.edu	37	1	99771298	99771298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:99771298G>T	ENST00000370185.3	+	7	1521	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	LPPR4_ENST00000457765.1_Missense_Mutation_p.D284Y|LPPR4_ENST00000370184.1_Missense_Mutation_p.D184Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		342							phosphatidate phosphatase activity	p.D342Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCAGCACAGAGACGCCCTCAG	0.448000													42	97					1.22674e-20	1.97839e-20	0.008740	1	0
TRBV24-1	28563	broad.mit.edu	37	7	142364503	142364503	+	RNA	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:142364503G>T	ENST00000390397.2	+	0	174																											CTCAGACTAAGGGTCATGATA	0.438000													11	19					6.42651e-13	9.58822e-13	0.010729	1	0
CSMD3	114788	broad.mit.edu	37	8	113323246	113323246	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:113323246C>A	ENST00000297405.5	-	50	8090	c.7846G>T	c.(7846-7848)Ggg>Tgg	p.G2616W	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2546W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2512W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2576W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2616	Sushi 14.					integral to membrane|plasma membrane		p.G2576W(1)|p.G2616W(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCATGATACCCATAGGAAGAC	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			48	58					3.10996e-30	5.19569e-30	0.014410	1	0
C11orf88	399949	broad.mit.edu	37	11	111385678	111385678	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:111385678C>A	ENST00000529167.1	+	1	169	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	C11orf88_ENST00000375618.4_Missense_Mutation_p.R57S|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Missense_Mutation_p.R57S			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	57								p.R57S(2)		endometrium(1)|large_intestine(3)|lung(2)	6						GCTGGTGCTGCGCAGAGACAG	0.587000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	45					0.00621372	0.00679854	0.006214	1	0
VSIG4	11326	broad.mit.edu	37	X	65252505	65252505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:65252505C>A	ENST00000455586.2	-	3	625	c.499G>T	c.(499-501)Gct>Tct	p.A167S	VSIG4_ENST00000374737.4_Missense_Mutation_p.A167S|VSIG4_ENST00000412866.2_Intron	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	167	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding	p.A167S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACCCCGAGCCTGGCATTGA	0.488000													3	37					0.004672	0.00513184	0.004672	1	0
ATRNL1	26033	broad.mit.edu	37	10	116889227	116889227	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:116889227C>T	ENST00000355044.3	+	5	885	c.759C>T	c.(757-759)tgC>tgT	p.C253C	ATRNL1_ENST00000527407.1_Silent_p.C253C|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	253						integral to membrane	sugar binding	p.C253C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAGCCAATTGCGGCAGTCCAG	0.413000													17	43					0	0	0.004007	0	0
PEX1	5189	broad.mit.edu	37	7	92147358	92147358	+	Splice_Site	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:92147358T>A	ENST00000248633.4	-	5	568		c.e5-2		PEX1_ENST00000428214.1_Splice_Site|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTAGTGCAACTGTGTAGAAAA	0.388000													6	37					0	0	0.001984	0	0
TMEM135	65084	broad.mit.edu	37	11	87013423	87013423	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:87013423C>T	ENST00000340353.7	+	7	773	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	TMEM135_ENST00000532959.1_Missense_Mutation_p.H84Y|TMEM135_ENST00000535167.1_Missense_Mutation_p.H74Y|TMEM135_ENST00000305494.5_Missense_Mutation_p.H213Y	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	213						integral to membrane		p.H213Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGAGAGCAACATGAGGAAAA	0.383000													16	99					0	0	0.003163	0	0
CD101	9398	broad.mit.edu	37	1	117559956	117559956	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:117559956G>T	ENST00000256652.4	+	5	1531	c.1473G>T	c.(1471-1473)tgG>tgT	p.W491C	CD101_ENST00000369470.1_Missense_Mutation_p.W491C	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	491	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.W491_A492>CS(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATGGACTGGGCCACCTTCC	0.547000													20	84					1.37878e-21	2.23651e-21	0.003330	1	0
KCTD7	154881	broad.mit.edu	37	7	66103260	66103260	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:66103260G>A	ENST00000275532.3	+	3	519	c.335G>A	c.(334-336)cGc>cAc	p.R112H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R112H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	112	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R112H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						AATTTCCTGCGCTCAGGGGAC	0.567000													7	92					0	0	0.001984	0	0
CD101	9398	broad.mit.edu	37	1	117559957	117559957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:117559957G>T	ENST00000256652.4	+	5	1532	c.1474G>T	c.(1474-1476)Gcc>Tcc	p.A492S	CD101_ENST00000369470.1_Missense_Mutation_p.A492S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	492	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.W491_A492>CS(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATGGACTGGGCCACCTTCCA	0.552000													20	87					1.37878e-21	2.23651e-21	0.003330	1	0
TAF9B	51616	broad.mit.edu	37	X	77395088	77395088	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:77395088C>A	ENST00000341864.5	-	1	115	c.21G>T	c.(19-21)gcG>gcT	p.A7A		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	7					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	p.A7A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TCTTGGGAGGCGCCATCTTGC	0.657000													5	88					0.000602214	0.000691431	0.000602	1	0
NFASC	23114	broad.mit.edu	37	1	204955154	204955154	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:204955154C>T	ENST00000367172.4	+	23	3031	c.2703C>T	c.(2701-2703)taC>taT	p.Y901Y	NFASC_ENST00000338586.6_Silent_p.Y901Y|NFASC_ENST00000367171.4_Silent_p.Y886Y|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000513543.1_Silent_p.Y897Y|NFASC_ENST00000360049.4_Silent_p.Y897Y|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Silent_p.Y897Y|NFASC_ENST00000404076.1_Silent_p.Y880Y|NFASC_ENST00000539706.1_Silent_p.Y897Y|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Silent_p.Y901Y|NFASC_ENST00000338515.6_Silent_p.Y901Y			O94856	NFASC_HUMAN	neurofascin	901	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.Y897Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTTCCCCTACAGTAACTACA	0.592000													4	39					0	0	0.009096	0	0
LRIG1	26018	broad.mit.edu	37	3	66436675	66436675	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:66436675T>C	ENST00000383703.3	-	14	2194	c.1591A>G	c.(1591-1593)Atg>Gtg	p.M531V	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.M507V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	507	Ig-like C2-type 1.					integral to membrane		p.M507V(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCCCACCATAGCCATGGTG	0.537000													6	225					0	0	0.001168	0	0
PARM1	25849	broad.mit.edu	37	4	75937931	75937931	+	Missense_Mutation	SNP	G	G	A	rs34305542		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr4:75937931G>A	ENST00000307428.7	+	2	552	c.340G>A	c.(340-342)Ggt>Agt	p.G114S	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	114					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		p.G114S(2)|p.G173S(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GTCAACAAGCGGTGGAGTCCA	0.567000													30	52					0	0	0.007291	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087237	39087237	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr21:39087237G>T	ENST00000400482.3	-	3	812	c.223C>A	c.(223-225)Cgc>Agc	p.R75S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R75S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	75					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R75S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCAGGTAGCGATAGGTCTCC	0.463000													46	84					4.44401e-20	7.08503e-20	0.010771	1	0
COL23A1	91522	broad.mit.edu	37	5	177715330	177715330	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:177715330A>G	ENST00000390654.3	-	5	793	c.436T>C	c.(436-438)Tac>Cac	p.Y146H	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	146	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding	p.Y146H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATTACCGGGTAGCCATCTCGT	0.418000													29	144					0	0	0.006320	0	0
OR4N2	390429	broad.mit.edu	37	14	20296047	20296047	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr14:20296047C>A	ENST00000568211.1	+	1	440	c.440C>A	c.(439-441)gCt>gAt	p.A147D	OR4N2_ENST00000315947.1_Missense_Mutation_p.A147D			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGATGTTGGCTCTGTGGCTT	0.522000													5	175					5.18039e-06	6.4813e-06	0.003080	1	0
ARMC4P1	101060171	broad.mit.edu	37	10	27577698	27577698	+	RNA	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:27577698G>A	ENST00000576034.1	+	0	588																											CAGGAAGCAAGTGCAGATTTG	0.398000													5	42					0	0	0.001168	0	0
CASZ1	54897	broad.mit.edu	37	1	10703261	10703261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:10703261G>A	ENST00000377022.3	-	19	4293	c.3976C>T	c.(3976-3978)Cgg>Tgg	p.R1326W	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R1326W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCATCCTCCGCATGTGCTTC	0.647000													12	43					0	0	0.001855	0	0
MUC17	140453	broad.mit.edu	37	7	100686537	100686537	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:100686537C>A	ENST00000306151.4	+	3	11904	c.11840C>A	c.(11839-11841)aCc>aAc	p.T3947N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3947						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3947N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTGTCACCAGTTCTACT	0.463000													30	90					2.70662e-09	3.75695e-09	0.009535	1	0
NEUROD4	58158	broad.mit.edu	37	12	55421051	55421051	+	Silent	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:55421051C>G	ENST00000242994.3	+	2	1206	c.828C>G	c.(826-828)tcC>tcG	p.S276S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	276					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S276S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TAGAAAAATCCTACAGCTTCA	0.502000													31	202					0	0	0.010818	0	0
FGF4	2249	broad.mit.edu	37	11	69588893	69588893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:69588893G>T	ENST00000168712.1	-	2	661	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	FGF4_ENST00000538040.1_Intron	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	115					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding	p.L115M(1)		lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	AGCTCCAGCAGGCCTGGGGGC	0.692000													4	8					0.00024832	0.00028988	0.009096	1	0
BPI	671	broad.mit.edu	37	20	36965569	36965569	+	Missense_Mutation	SNP	G	G	A	rs5743549	byFrequency	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr20:36965569G>A	ENST00000262865.4	+	15	1536	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N		NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	483					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.D483N(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTTCGGTGCAGACGTTGTCTA	0.547000													19	169					0	0	0.002780	0	0
ZNF226	7769	broad.mit.edu	37	19	44680542	44680542	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:44680542C>T	ENST00000590089.1	+	7	1494	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.S376F|ZNF226_ENST00000337433.5_Missense_Mutation_p.S376F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S376F(1)					Prostate(69;0.0352)|all_neural(266;0.202)				AGTCAGGCCTCTCATCTTCAG	0.478000													20	58					0	0	0.010504	0	0
IRS4	8471	broad.mit.edu	37	X	107978288	107978288	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:107978288C>A	ENST00000372129.2	-	1	1363	c.1287G>T	c.(1285-1287)ccG>ccT	p.P429P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	429						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.P429P(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAAGCTGGCCGGCACTGAAA	0.637000													10	70					1.76689e-08	2.4047e-08	0.006214	1	0
CTNNA1	1495	broad.mit.edu	37	5	138118888	138118888	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:138118888A>T	ENST00000302763.7	+	3	218	c.128A>T	c.(127-129)aAt>aTt	p.N43I	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Missense_Mutation_p.N43I	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	43	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	p.N43I(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTAAACACCAATAGTAAAGGG	0.363000													15	34					0	0	0.003163	0	0
FGF10	2255	broad.mit.edu	37	5	44388547	44388547	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:44388547T>C	ENST00000264664.4	-	1	352	c.238A>G	c.(238-240)Aga>Gga	p.R80G		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	80					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AATAGCTTTCTCCAGCGGACA	0.507000													3	59					0	0	0.009096	0	0
ZNF678	339500	broad.mit.edu	37	1	227843217	227843217	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:227843217C>T	ENST00000343776.4	+	4	1611	c.1266C>T	c.(1264-1266)agC>agT	p.S422S	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.S477S			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	477					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S422S(1)|p.S477S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACCTAACTAGCCATAAGAGAA	0.368000													5	58					0	0	0.000602	0	0
FSHR	2492	broad.mit.edu	37	2	49247259	49247259	+	Missense_Mutation	SNP	C	C	G	rs140960768	byFrequency	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:49247259C>G	ENST00000406846.2	-	3	384	c.265G>C	c.(265-267)Gat>Cat	p.D89H	FSHR_ENST00000346173.3_Missense_Mutation_p.D89H|FSHR_ENST00000304421.4_Missense_Mutation_p.D89H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	89					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.D89H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGAACACATCTGCCTCTATC	0.378000									Gonadal Dysgenesis, 46 XX				13	438					0	0	0.002450	0	0
CDH6	1004	broad.mit.edu	37	5	31299636	31299636	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:31299636C>A	ENST00000265071.2	+	5	974	c.709C>A	c.(709-711)Caa>Aaa	p.Q237K	CDH6_ENST00000514738.1_Missense_Mutation_p.Q182K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	237	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q237K(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGGTGATTCAAGCCAAGGA	0.498000													27	57					1.1804e-14	1.82961e-14	0.003954	1	0
CSMD3	114788	broad.mit.edu	37	8	113563023	113563023	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:113563023G>T	ENST00000297405.5	-	27	4685	c.4441C>A	c.(4441-4443)Ctt>Att	p.L1481I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L1481I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1377I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1441I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1481	CUB 8.					integral to membrane|plasma membrane		p.L1441I(1)|p.L1481I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCTTTAAAAGCATATCATTT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	106					0.000157383	0.000186059	0.003080	1	0
MSI2	124540	broad.mit.edu	37	17	55478805	55478805	+	Silent	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:55478805A>C	ENST00000284073.2	+	6	587	c.378A>C	c.(376-378)gtA>gtC	p.V126V	MSI2_ENST00000579180.1_Silent_p.V22V|MSI2_ENST00000322684.3_Silent_p.V122V|MSI2_ENST00000442934.2_Silent_p.V65V|MSI2_ENST00000416426.2_Silent_p.V104V	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	126	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.V126V(1)|p.V122V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TGGAAGATGTAAAGCAATATT	0.463000			T	HOXA9	CML								14	82					0	0	0.004007	0	0
PDE1B	5153	broad.mit.edu	37	12	54967437	54967437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:54967437G>T	ENST00000243052.3	+	10	1444	c.1008G>T	c.(1006-1008)atG>atT	p.M336I	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.M295I|PDE1B_ENST00000550620.1_Missense_Mutation_p.M316I	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	336	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.M336I(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCACAGACATGTCCTGCCATT	0.582000													19	141					4.35082e-09	6.0093e-09	0.010504	1	0
MEIS3	56917	broad.mit.edu	37	19	47920532	47920532	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:47920532C>A	ENST00000331559.5	-	2	529	c.88G>T	c.(88-90)Gca>Tca	p.A30S	MEIS3_ENST00000559524.1_Missense_Mutation_p.A30S|MEIS3_ENST00000558555.1_Missense_Mutation_p.A30S|MEIS3_ENST00000441740.2_Missense_Mutation_p.A30S|MEIS3_ENST00000561293.1_Missense_Mutation_p.A30S|MEIS3_ENST00000561096.1_Missense_Mutation_p.A118S	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A30S(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCTGGTACTGCGGGCACTGTC	0.652000													15	52					5.3912e-06	6.71494e-06	0.006122	1	0
OR1J2	26740	broad.mit.edu	37	9	125273566	125273566	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr9:125273566C>A	ENST00000335302.5	+	1	486	c.486C>A	c.(484-486)ctC>ctA	p.L162L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACACCCTTCTCCTGACCCGGC	0.527000													27	95					2.48779e-11	3.65313e-11	0.005443	1	0
KLHL6	89857	broad.mit.edu	37	3	183273319	183273319	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:183273319G>T	ENST00000341319.3	-	1	158	c.123C>A	c.(121-123)atC>atA	p.I41I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	41								p.I41I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCCCATTTAAGATCTCGACCA	0.517000													11	159					2.27111e-07	2.98887e-07	0.013537	1	0
GBP5	115362	broad.mit.edu	37	1	89735197	89735197	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:89735197G>A	ENST00000343435.5	-	3	578	c.42C>T	c.(40-42)atC>atT	p.I14I	GBP5_ENST00000370459.3_Silent_p.I14I|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	14						plasma membrane	GTP binding|GTPase activity	p.I14I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TAAAGTTCTCGATGAGGCACA	0.478000													8	202					0	0	0.004482	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458381	101458381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:101458381C>A	ENST00000370489.4	+	10	1279	c.1101C>A	c.(1099-1101)aaC>aaA	p.N367K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	367						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.N367K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TGGAGAGGAACAGCCAAGTCT	0.567000													6	46					0.00116845	0.00130922	0.001168	1	0
FYB	2533	broad.mit.edu	37	5	39201957	39201957	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:39201957G>A	ENST00000351578.6	-	2	1296	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	FYB_ENST00000512982.1_Missense_Mutation_p.T369M|FYB_ENST00000505428.1_Missense_Mutation_p.T369M|FYB_ENST00000515010.1_Missense_Mutation_p.T369M|FYB_ENST00000540520.1_Missense_Mutation_p.T379M	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	369	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.T369M(3)|p.T379M(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTGGAATTTCGTCAGGTCAAC	0.458000													4	44					0	0	0.000602	0	0
BRINP2	57795	broad.mit.edu	37	1	177199216	177199216	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:177199216T>C	ENST00000361539.4	+	2	516	c.204T>C	c.(202-204)gcT>gcC	p.A68A		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		68						extracellular region		p.A68A(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCCACCGCGCTCAGGAGTATG	0.642000													13	127					0	0	0.003163	0	0
DCLK3	85443	broad.mit.edu	37	3	36779750	36779750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:36779750C>A	ENST00000416516.2	-	2	891	c.401G>T	c.(400-402)gGt>gTt	p.G134V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	134						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G134V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GATAATTTCACCCGAGGTCTT	0.572000													34	91					1.36615e-20	2.19054e-20	0.013726	1	0
GPR142	350383	broad.mit.edu	37	17	72368476	72368476	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:72368476G>A	ENST00000335666.4	+	4	1174	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	376						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.V376L(2)|p.V376I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCGGGTCTTCGTCATGCTCTA	0.662000													11	59					0	0	0.008291	0	0
KCTD19	146212	broad.mit.edu	37	16	67328886	67328886	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:67328886C>T	ENST00000304372.5	-	10	1520	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	489						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E489K(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGTATGCTTCACATTGTGCA	0.443000													14	40					0	0	0.001855	0	0
BAGE2	85319	broad.mit.edu	37	21	11058332	11058332	+	RNA	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr21:11058332G>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCTGAAAGGGGTAAAGGAGA	0.373000													6	213					0	0	0.001984	0	0
NGFRAP1	27018	broad.mit.edu	37	X	102632569	102632569	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:102632569C>A	ENST00000361298.4	+	3	485	c.120C>A	c.(118-120)gcC>gcA	p.A40A	NGFRAP1_ENST00000372645.3_Silent_p.A50A|NGFRAP1_ENST00000299872.7_Silent_p.A50A|NGFRAP1_ENST00000372635.1_Silent_p.A50A|NGFRAP1_ENST00000372634.1_Silent_p.A40A	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	50					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	p.A50A(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TTCGATGGGCCATACCCAATA	0.517000													10	215					3.07112e-06	3.89474e-06	0.010729	1	0
SNX13	23161	broad.mit.edu	37	7	17838743	17838743	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:17838743A>G	ENST00000409389.1	-	23	2538	c.2366T>C	c.(2365-2367)cTt>cCt	p.L789P	SNX13_ENST00000428135.3_Missense_Mutation_p.L778P|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	789					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	p.L778P(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATCCATGAGAAGCAGCATTAC	0.333000													5	51					0	0	0.000602	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													4	12					0	0	0.001168	0	0
MMEL1	79258	broad.mit.edu	37	1	2537763	2537763	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:2537763G>C	ENST00000288709.6	-	8	887	c.647C>G	c.(646-648)tCa>tGa	p.S216*	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.S225*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	225					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.S216*(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GTTGAACTGTGAGTTCATCAG	0.672000													3	29					0	0	0.004672	0	0
KIAA0907	22889	broad.mit.edu	37	1	155895471	155895471	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:155895471T>G	ENST00000368320.3	-	7	870	c.845A>C	c.(844-846)gAg>gCg	p.E282A	KIAA0907_ENST00000368321.3_Missense_Mutation_p.E282A|KIAA0907_ENST00000368319.3_Missense_Mutation_p.E282A|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	282								p.E282A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AGATGCTGGCTCAATGCAGCC	0.483000													5	120					0	0	0.001168	0	0
TSGA10	80705	broad.mit.edu	37	2	99636892	99636892	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:99636892C>G	ENST00000393483.3	-	18	2512	c.1668G>C	c.(1666-1668)caG>caC	p.Q556H	TSGA10_ENST00000355053.4_Missense_Mutation_p.Q556H|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q556H|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q556H	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	556	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane		p.Q556H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CATTTGCCATCTGACTCCTCA	0.383000													8	49					0	0	0.008291	0	0
CPT1A	1374	broad.mit.edu	37	11	68530172	68530172	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:68530172C>A	ENST00000265641.5	-	15	1952	c.1798G>T	c.(1798-1800)Ggg>Tgg	p.G600W	CPT1A_ENST00000376618.2_Missense_Mutation_p.G600W|CPT1A_ENST00000539743.1_Missense_Mutation_p.G600W|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000540367.1_Missense_Mutation_p.G600W	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	600					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.G600W(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TCCGTCCTCCCCTCTCGGAAG	0.612000													11	27					0.000978159	0.00111847	0.010729	1	0
ZNF99	7652	broad.mit.edu	37	19	22940301	22940301	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:22940301G>A	ENST00000397104.3	-	5	2136	c.2137C>T	c.(2137-2139)Ctt>Ttt	p.L713F	ZNF99_ENST00000596209.1_Missense_Mutation_p.L804F					zinc finger protein 99									p.L713F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGGGTTGAGGAA	0.338000													5	25					0	0	0.001168	0	0
ARID1A	8289	broad.mit.edu	37	1	27106495	27106495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:27106495G>T	ENST00000324856.7	+	20	6477	c.6106G>T	c.(6106-6108)Gaa>Taa	p.E2036*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1819*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1653*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E364*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2036					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E2036*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAAGGAGGAGGAACAGGACCA	0.562000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	52					0.00024832	0.00028988	0.009096	1	0
USP9X	8239	broad.mit.edu	37	X	41029762	41029762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:41029762C>T	ENST00000324545.7	+	20	3550	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	USP9X_ENST00000378308.2_Missense_Mutation_p.P973S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	973					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.P966S(1)|p.P973S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCCAATATGCCTTCAAGCCC	0.363000													4	66					0	0	0.000602	0	0
OR7G1	125962	broad.mit.edu	37	19	9226302	9226302	+	Silent	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:9226302G>C	ENST00000293614.1	-	1	137	c.138C>G	c.(136-138)ctC>ctG	p.L46L	OR7G1_ENST00000541538.1_Silent_p.L46L			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGACAGCCAGGAGAATGAGCA	0.488000													16	86					0	0	0.004007	0	0
CIZ1	25792	broad.mit.edu	37	9	130942800	130942800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr9:130942800G>A	ENST00000538431.1	-	7	932	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	CIZ1_ENST00000372948.3_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000393608.1_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.Q128*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.Q200*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.Q205*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.Q229*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.Q229*	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	229						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGTAAATCTTGGTCTGGAATG	0.582000													3	69					0	0	0.009096	0	0
PRRC2C	23215	broad.mit.edu	37	1	171511222	171511222	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:171511222A>T	ENST00000367742.3	+	16	4859	c.4617A>T	c.(4615-4617)gaA>gaT	p.E1539D	PRRC2C_ENST00000338920.4_Missense_Mutation_p.E1537D|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E1537D|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E1539D			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1537							protein C-terminus binding	p.E1539D(2)									CAAAGAGGGAAATTGCAAAGA	0.418000													32	30					0	0	0.008361	0	0
DCLK1	9201	broad.mit.edu	37	13	36382450	36382450	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr13:36382450C>A	ENST00000255448.4	-	14	1985	c.1774G>T	c.(1774-1776)Gat>Tat	p.D592Y	DCLK1_ENST00000360631.3_Missense_Mutation_p.D592Y|DCLK1_ENST00000379893.1_Missense_Mutation_p.D285Y	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	592	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.D592Y(2)|p.D285Y(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCTGGTCATCACCACTTCTG	0.448000													16	53					1.01871e-10	1.48032e-10	0.008871	1	0
ROBO2	6092	broad.mit.edu	37	3	77629248	77629248	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:77629248G>A	ENST00000461745.1	+	16	3379	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	ROBO2_ENST00000332191.8_Missense_Mutation_p.E827K|ROBO2_ENST00000487694.3_Missense_Mutation_p.E843K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	827					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.E843K(1)|p.E827K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTAAAGAGTGAGCCACAGCC	0.448000													14	30					0	0	0.004990	0	0
ANXA6	309	broad.mit.edu	37	5	150509007	150509007	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:150509007G>A	ENST00000354546.5	-	12	1106	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Silent_p.F86F|ANXA6_ENST00000523714.1_Silent_p.F261F|ANXA6_ENST00000356496.5_Silent_p.F293F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	293						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.F345F(1)|p.F293F(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTGGTCCGGAAGATCTCCC	0.552000													10	31					0	0	0.013537	0	0
SMC1B	27127	broad.mit.edu	37	22	45758883	45758883	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr22:45758883G>C	ENST00000357450.4	-	16	2443	c.2444C>G	c.(2443-2445)aCt>aGt	p.T815S	SMC1B_ENST00000404354.3_Missense_Mutation_p.T815S	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	815					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.T815S(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATTAAGCCGAGTTTTTTGTTT	0.299000													3	50					0	0	0.004672	0	0
CDIPT	10423	broad.mit.edu	37	16	29874031	29874031	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:29874031C>T	ENST00000219789.6	-	2	932	c.54G>A	c.(52-54)cgG>cgA	p.R18R	CDIPT_ENST00000569956.1_Silent_p.R18R|CDIPT_ENST00000570016.1_Silent_p.R18R|CDIPT_ENST00000566113.1_Intron|CDIPT_ENST00000563415.1_Silent_p.R18R	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	18						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	p.R18R(1)		endometrium(1)|lung(3)	4						CGAAGACAATCCGGGCATAAC	0.652000													11	47					0	0	0.008291	0	0
PREX2	80243	broad.mit.edu	37	8	68965476	68965476	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:68965476G>A	ENST00000288368.4	+	9	1365	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	363					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R363Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAGAACGGCGGAAAGGTGGG	0.373000													11	134					0	0	0.010729	0	0
RAB3C	115827	broad.mit.edu	37	5	58147149	58147149	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:58147149C>T	ENST00000282878.4	+	5	824	c.655C>T	c.(655-657)Cct>Tct	p.P219S	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	219					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.P219S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GGAAACTCCTCCTCCACCGCA	0.527000													12	29					0	0	0.010729	0	0
OR2M4	26245	broad.mit.edu	37	1	248402835	248402835	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:248402835G>A	ENST00000306687.1	+	1	605	c.605G>A	c.(604-606)tGt>tAt	p.C202Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C202Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTGTCATTTGTTGTGTGGTA	0.438000													76	83					0	0	0.014410	0	0
SPATA16	83893	broad.mit.edu	37	3	172835115	172835115	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:172835115C>A	ENST00000351008.3	-	2	590	c.407G>T	c.(406-408)cGc>cTc	p.R136L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAACTCATAGCGAACACCCAT	0.423000													5	121					1.024e-07	1.38017e-07	0.000602	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621188	144621188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:144621188G>C	ENST00000262577.5	-	2	380	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	117					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCTGACTGAGCTGGACCTGT	0.622000													5	124					0	0	0.000602	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170978	207170978	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:207170978T>A	ENST00000374423.3	+	5	2112	c.1726T>A	c.(1726-1728)Tcg>Acg	p.S576T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	576							nucleic acid binding|zinc ion binding	p.S576T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAACTATGGATCGAGTTGTTC	0.438000													3	33					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179445159	179445159	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:179445159T>G	ENST00000589042.1	-	317	67171	c.66947A>C	c.(66946-66948)gAc>gCc	p.D22316A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20675A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13443A|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13376A|TTN_ENST00000342992.6_Missense_Mutation_p.D19748A|TTN_ENST00000460472.2_Missense_Mutation_p.D13251A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20675	Fibronectin type-III 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAAAGTGTCAAAGTCAGT	0.393000													3	94					0	0	0.004672	0	0
CH25H	9023	broad.mit.edu	37	10	90966547	90966547	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:90966547G>A	ENST00000371852.2	-	1	524	c.503C>T	c.(502-504)gCg>gTg	p.A168V		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	168					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding	p.A168V(1)		kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		CGTTGCCAGCGCGAACGAGGA	0.577000													5	89					0	0	0.000602	0	0
MIOS	54468	broad.mit.edu	37	7	7629038	7629038	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:7629038A>T	ENST00000340080.4	+	9	2308	c.1887A>T	c.(1885-1887)ttA>ttT	p.L629F	MIOS_ENST00000405785.1_Missense_Mutation_p.L629F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	629								p.L629F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTCCAGTTAAATAGATACA	0.313000													30	84					0	0	0.006320	0	0
PSMD7	5713	broad.mit.edu	37	16	74339302	74339302	+	Missense_Mutation	SNP	G	G	A	rs115842956	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:74339302G>A	ENST00000219313.4	+	7	786	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	PSMD7_ENST00000567958.1_Intron|AC009120.6_ENST00000566411.1_RNA|AC009120.6_ENST00000565313.1_RNA|PSMD7_ENST00000540379.1_Missense_Mutation_p.A139T	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	216				A -> G (in Ref. 1; BAA08780).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.A216T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						GGAAAAAGTCGCCACAGGCAA	0.552000													13	20					0	0	0.001855	0	0
ABHD5	51099	broad.mit.edu	37	3	43743969	43743969	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:43743969G>A	ENST00000458276.2	+	3	519	c.396G>A	c.(394-396)gtG>gtA	p.V132V		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	132					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	p.V132V(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		ATCAGTTTGTGGAATCCATTG	0.468000													53	102					0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152277225	152277225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:152277225C>A	ENST00000368799.1	-	3	10172	c.10137G>T	c.(10135-10137)agG>agT	p.R3379S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3379	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)			AACGTCCAGACCTTCCCCCTG	0.582000									Ichthyosis				7	463					0.000157383	0.000186059	0.003080	1	0
ISL1	3670	broad.mit.edu	37	5	50683565	50683565	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:50683565C>A	ENST00000230658.7	+	3	1045	c.460C>A	c.(460-462)Cgg>Agg	p.R154R	ISL1_ENST00000511384.1_Silent_p.R154R|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	154					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R154R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCATCCAGCGCGGCCACTGCA	0.647000													4	19					0.00909568	0.00976036	0.009096	1	0
TSGA10	80705	broad.mit.edu	37	2	99636894	99636894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:99636894G>A	ENST00000393483.3	-	18	2510	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	TSGA10_ENST00000355053.4_Nonsense_Mutation_p.Q556*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.Q556*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.Q556*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	556	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane		p.Q556*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTTGCCATCTGACTCCTCAGG	0.383000													8	49					0	0	0.008291	0	0
ELL2	22936	broad.mit.edu	37	5	95234413	95234413	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:95234413C>G	ENST00000237853.4	-	8	1405	c.1056G>C	c.(1054-1056)ttG>ttC	p.L352F	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	352					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		p.L352F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGTGGGATTCAAATGACCAT	0.498000													8	189					0	0	0.004482	0	0
ZNF474	133923	broad.mit.edu	37	5	121487887	121487887	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:121487887C>A	ENST00000296600.4	+	2	585	c.202C>A	c.(202-204)Cta>Ata	p.L68I	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	68						intracellular	zinc ion binding	p.L68I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GACTGTGATACTATCAAAACT	0.463000													40	91					6.33695e-27	1.05239e-26	0.007835	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70012166	70012166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:70012166G>A	ENST00000325845.7	-	24	2538	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Nonsense_Mutation_p.Q189*|PDXDC2P_ENST00000531894.1_RNA														p.Q189*(2)|p.Q157*(1)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						CGCAACTCTTGCGCACGTTGA	0.453000													32	123					0	0	0.004878	0	0
LILRA6	79168	broad.mit.edu	37	19	54744954	54744954	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:54744954G>T	ENST00000440558.2	-	5	756	c.708C>A	c.(706-708)gcC>gcA	p.A236A	LILRA6_ENST00000396365.2_Silent_p.A236A|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.A236A|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Silent_p.A236A					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.A236A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGCCCAGGGGCCAGGACAG	0.642000													5	73					0.000602214	0.000691431	0.000602	1	0
HLTF	6596	broad.mit.edu	37	3	148760028	148760028	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:148760028G>C	ENST00000310053.5	-	19	2315	c.2122C>G	c.(2122-2124)Ctt>Gtt	p.L708V	HLTF_ENST00000494055.1_Missense_Mutation_p.L708V|HLTF_ENST00000465259.1_Missense_Mutation_p.L707V|HLTF_ENST00000392912.2_Missense_Mutation_p.L708V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	708					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTAAGCAAAAGACCCAGGACA	0.373000													3	68					0	0	0.004672	0	0
DUSP19	142679	broad.mit.edu	37	2	183948268	183948268	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:183948268C>T	ENST00000354221.4	+	2	434	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Silent_p.L87L	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	87					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	p.L87L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTTGGATACACTGAAAAAGAA	0.294000													19	67					0	0	0.014323	0	0
ARID1A	8289	broad.mit.edu	37	1	27105723	27105723	+	Silent	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:27105723A>G	ENST00000324856.7	+	20	5705	c.5334A>G	c.(5332-5334)gaA>gaG	p.E1778E	ARID1A_ENST00000457599.2_Silent_p.E1561E|ARID1A_ENST00000374152.2_Silent_p.E1395E|ARID1A_ENST00000540690.1_Silent_p.E106E	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1778					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1778E(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGAAGAAGAAGAGGAAGTAG	0.468000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	58					0	0	0.001984	0	0
CNTN5	53942	broad.mit.edu	37	11	100170106	100170106	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:100170106G>A	ENST00000524871.1	+	20	2888	c.2598G>A	c.(2596-2598)gtG>gtA	p.V866V	CNTN5_ENST00000527185.1_Silent_p.V866V|CNTN5_ENST00000418526.2_Silent_p.V792V|CNTN5_ENST00000528682.1_Silent_p.V866V|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.V866V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	866	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V866V(2)		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)		GTCAAATTGTGGTCATCTGTT	0.328000													23	43					0	0	0.003954	0	0
CDHR2	54825	broad.mit.edu	37	5	176008567	176008567	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:176008567T>A	ENST00000510636.1	+	17	2316	c.2042T>A	c.(2041-2043)gTc>gAc	p.V681D	CDHR2_ENST00000261944.5_Missense_Mutation_p.V681D|CDHR2_ENST00000506348.1_Missense_Mutation_p.V681D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	681	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V681D(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AAAGTCAATGTCACCATCACT	0.627000													4	32					0	0	0.009096	0	0
HMCN1	83872	broad.mit.edu	37	1	186056670	186056670	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:186056670G>A	ENST00000271588.4	+	60	9485	c.9256G>A	c.(9256-9258)Gtg>Atg	p.V3086M	HMCN1_ENST00000367492.2_Missense_Mutation_p.V3086M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3086	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.V3086M(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCGAACGCTGTGCCACCTCC	0.438000													12	176					0	0	0.010729	0	0
FOXL1	2300	broad.mit.edu	37	16	86613358	86613358	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:86613358C>A	ENST00000320241.3	+	1	1244	c.1029C>A	c.(1027-1029)caC>caA	p.H343Q		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	343					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.H343Q(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGGTACTCCACTTCCAGTAAA	0.587000													12	28					4.3838e-07	5.71533e-07	0.001855	1	0
ASB10	136371	broad.mit.edu	37	7	150884096	150884096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:150884096G>C	ENST00000422024.1	-	1	382	c.257C>G	c.(256-258)tCt>tGt	p.S86C	ASB10_ENST00000377867.3_Intron|ASB10_ENST00000420175.2_Missense_Mutation_p.S41C|ASB10_ENST00000275838.1_Missense_Mutation_p.S41C|ASB10_ENST00000434669.1_Missense_Mutation_p.S86C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	41					intracellular signal transduction			p.S41C(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCGGGCCAGACTTGAGGTG	0.662000													6	14					0	0	0.001168	0	0
PCSK6	5046	broad.mit.edu	37	15	101906498	101906498	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr15:101906498T>A	ENST00000348070.1	-	14	1757	c.1758A>T	c.(1756-1758)gaA>gaT	p.E586D	PCSK6_ENST00000331826.7_Missense_Mutation_p.E421D|PCSK6_ENST00000398181.2_Missense_Mutation_p.E586D|PCSK6_ENST00000358417.3_Missense_Mutation_p.E586D|PCSK6_ENST00000344273.2_Missense_Mutation_p.E586D|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	587	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.E586D(3)|p.E421D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTCATGAATTCCCAGTTTG	0.537000													5	29					0	0	0.000602	0	0
NKTR	4820	broad.mit.edu	37	3	42674246	42674246	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:42674246C>G	ENST00000232978.8	+	9	892	c.704C>G	c.(703-705)tCt>tGt	p.S235C	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	235	Arg/Lys-rich (basic).|Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.S235C(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GTTAAACGTTCTAAAAAGAGG	0.408000													3	55					0	0	0.009096	0	0
ITIH6	347365	broad.mit.edu	37	X	54783839	54783839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:54783839G>T	ENST00000218436.6	-	8	2697	c.2668C>A	c.(2668-2670)Cct>Act	p.P890T		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	890	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P890T(1)									GGTCTGTCAGGTCTAGGAGGT	0.522000													20	69					1.15919e-05	1.43103e-05	0.008871	1	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978487	45978487	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr21:45978487C>A	ENST00000391620.1	-	1	156	c.112G>T	c.(112-114)Gcc>Tcc	p.A38S	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	38	18 X 5 AA repeats of C-C-X(3).					keratin filament		p.A38S(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGGGCCGGGGCGCAGCAGCTG	0.697000													10	27					7.07596e-05	8.62093e-05	0.006122	1	0
GPR64	10149	broad.mit.edu	37	X	19031921	19031921	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:19031921G>T	ENST00000354791.3	-	15	1175	c.934C>A	c.(934-936)Cct>Act	p.P312T	GPR64_ENST00000357544.3_Missense_Mutation_p.P298T|GPR64_ENST00000340581.3_Missense_Mutation_p.P298T|GPR64_ENST00000357991.3_Missense_Mutation_p.P325T|GPR64_ENST00000379873.2_Missense_Mutation_p.P328T|GPR64_ENST00000379878.3_Missense_Mutation_p.P312T|GPR64_ENST00000356606.4_Missense_Mutation_p.P314T|GPR64_ENST00000379876.1_Missense_Mutation_p.P304T|GPR64_ENST00000379869.3_Missense_Mutation_p.P328T|GPR64_ENST00000360279.4_Missense_Mutation_p.P306T			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	328					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.P325T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TGGGGCATAGGGGAAGAGATC	0.572000													6	127					8.12818e-05	9.81716e-05	0.001984	1	0
OR8H2	390151	broad.mit.edu	37	11	55872950	55872950	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:55872950C>A	ENST00000313503.1	+	1	432	c.432C>A	c.(430-432)ctC>ctA	p.L144L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCCTCGCTCTCATCACTGGGC	0.443000										HNSCC(53;0.14)			7	196					1.06961e-07	1.43472e-07	0.003080	1	0
FAM83B	222584	broad.mit.edu	37	6	54805254	54805254	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:54805254G>T	ENST00000306858.7	+	5	1601	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	495								p.W495C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACGTAACTGGAGAATTGAAT	0.408000													16	94					7.81268e-19	1.23849e-18	0.004990	1	0
CACNA1S	779	broad.mit.edu	37	1	201044651	201044651	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:201044651G>A	ENST00000362061.3	-	13	2146	c.1920C>T	c.(1918-1920)taC>taT	p.Y640Y	CACNA1S_ENST00000367338.3_Silent_p.Y640Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	640					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.Y640Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGATGATGAAGTAAATGCACA	0.542000													26	181					0	0	0.010818	0	0
COL24A1	255631	broad.mit.edu	37	1	86581035	86581035	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:86581035T>C	ENST00000370571.2	-	4	1884	c.1518A>G	c.(1516-1518)ccA>ccG	p.P506P	COL24A1_ENST00000436319.1_Silent_p.P506P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	506	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent	p.P506P(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGACGGACCTGGGATACCTG	0.418000													7	29					0	0	0.003080	0	0
GRM7	2917	broad.mit.edu	37	3	6903372	6903372	+	Silent	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:6903372G>C	ENST00000486284.1	+	1	571	c.297G>C	c.(295-297)gtG>gtC	p.V99V	GRM7_ENST00000357716.4_Silent_p.V99V|GRM7_ENST00000389336.4_Silent_p.V99V|GRM7_ENST00000402647.2_Silent_p.V99V|GRM7_ENST00000403881.1_Silent_p.V99V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	99					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.V99V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGCCCAACGTGACGCTGGGCG	0.597000													6	13					0	0	0.001984	0	0
WSCD1	23302	broad.mit.edu	37	17	6021387	6021387	+	Silent	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:6021387T>A	ENST00000574946.1	+	8	1644	c.1254T>A	c.(1252-1254)atT>atA	p.I418I	WSCD1_ENST00000317744.5_Silent_p.I418I|WSCD1_ENST00000539421.1_Silent_p.I418I|WSCD1_ENST00000573634.1_Silent_p.I302I|WSCD1_ENST00000574232.1_Silent_p.I418I			Q658N2	WSCD1_HUMAN	WSC domain containing 1	418						integral to membrane	sulfotransferase activity	p.I418I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGAGGGAGATTGAGATGTTTG	0.547000													13	33					0	0	0.001855	0	0
CPA4	51200	broad.mit.edu	37	7	129939236	129939236	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:129939236G>T	ENST00000222482.4	+	3	305	c.277G>T	c.(277-279)Gac>Tac	p.D93Y	CPA4_ENST00000445470.2_Missense_Mutation_p.D93Y|CPA4_ENST00000493259.1_Intron	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	93					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.D93Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GACAATTGAGGACCTGCAGGT	0.522000													13	46					4.36969e-10	6.15729e-10	0.001855	1	0
PCDHA8	56140	broad.mit.edu	37	5	140220966	140220966	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:140220966C>A	ENST00000531613.1	+	1	60	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.L20L|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1												p.L20L(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTCTGCTCCTCGCAGCCT	0.557000													17	41					1.99824e-07	2.64222e-07	0.004990	1	0
LUZP4	51213	broad.mit.edu	37	X	114536683	114536683	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:114536683G>A	ENST00000371920.3	+	2	225	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.G31R	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	73						nucleus		p.R73Q(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CATCGCCATCGGAGAGGTAAA	0.348000													19	152					0	0	0.008871	0	0
NPIPA1	9284	broad.mit.edu	37	16	15026684	15026684	+	Splice_Site	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr16:15026684G>C	ENST00000472413.1	+	16	3444		c.e16-1							nuclear pore complex interacting protein family, member A1																		CGCCTCTGCAGGGCTCAGCCC	0.642000													14	80					0	0	0.001855	0	0
CSF2RB	1439	broad.mit.edu	37	22	37329941	37329941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr22:37329941G>T	ENST00000262825.5	+	10	1455	c.1238G>T	c.(1237-1239)aGg>aTg	p.R413M	CSF2RB_ENST00000536485.1_Missense_Mutation_p.R354M|CSF2RB_ENST00000403662.3_Missense_Mutation_p.R407M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R413M	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	407	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.R407M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCTCCACCAGGTACTGGGCC	0.682000													6	25					3.59834e-05	4.40323e-05	0.001168	1	0
TSNARE1	203062	broad.mit.edu	37	8	143427140	143427140	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:143427140C>A	ENST00000524325.1	-	3	377	c.202G>T	c.(202-204)Gca>Tca	p.A68S	TSNARE1_ENST00000520166.1_Missense_Mutation_p.A68S|TSNARE1_ENST00000307180.3_Missense_Mutation_p.A68S|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	68					vesicle-mediated transport	integral to membrane		p.A68S(1)		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)					GGCGTGCCTGCTGGCCCCAGA	0.622000													16	23					1.3612e-06	1.73414e-06	0.003163	1	0
PTPRN2	5799	broad.mit.edu	37	7	157926709	157926709	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:157926709G>A	ENST00000389413.3	-	9	1319	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	PTPRN2_ENST00000389416.4_Missense_Mutation_p.H389Y|PTPRN2_ENST00000389418.4_Missense_Mutation_p.H406Y|PTPRN2_ENST00000409483.1_Missense_Mutation_p.H368Y|PTPRN2_ENST00000404321.2_Missense_Mutation_p.H429Y	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	406						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.H406Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGAGACCCGTGGTCCTGCAGG	0.582000													13	42					0	0	0.002450	0	0
PIPSL	266971	broad.mit.edu	37	10	95720326	95720326	+	RNA	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:95720326G>T	ENST00000480546.1	-	0	971					NR_002319.2																						CTATATTATGGATTGACATCA	0.473000													8	67					7.48243e-07	9.62027e-07	0.006214	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203586	140203586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:140203586C>A	ENST00000529859.1	+	1	2226	c.2226C>A	c.(2224-2226)agC>agA	p.S742R	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S742R|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S742R|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1												p.S742R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.652000													8	25					0.000442599	0.000512387	0.006214	1	0
LUZP2	338645	broad.mit.edu	37	11	25098931	25098931	+	Silent	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:25098931A>C	ENST00000533227.1	+	11	944	c.657A>C	c.(655-657)gcA>gcC	p.A219A	LUZP2_ENST00000336930.6_Silent_p.A305A	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	305						extracellular region		p.A305A(1)		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						ATGCCACTGCAGAAACCGAGC	0.338000													22	69					0	0	0.004656	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	76					0	0	0.001168	0	0
RHAG	6005	broad.mit.edu	37	6	49582478	49582478	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:49582478C>A	ENST00000371175.4	-	5	755	c.729G>T	c.(727-729)acG>acT	p.T243T	RHAG_ENST00000229810.7_Silent_p.T243T	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	243					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.T243T(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GAGAGAAGTACGTGTTTACAA	0.537000													15	79					1.05317e-09	1.47656e-09	0.002450	1	0
ADAM18	8749	broad.mit.edu	37	8	39537627	39537627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:39537627C>A	ENST00000265707.5	+	16	1748	c.1703C>A	c.(1702-1704)aCa>aAa	p.T568K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.T544K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	568	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.T568K(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCTCAATCTACAGTTTATTCA	0.398000													12	98					1.36491e-13	2.08093e-13	0.001855	1	0
FFAR1	2864	broad.mit.edu	37	19	35842897	35842897	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:35842897G>A	ENST00000246553.2	+	1	453	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	148					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	p.G148E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GAGGCTCCAGGAGGCTGGCTG	0.682000													23	53					0	0	0.002780	0	0
CCDC73	493860	broad.mit.edu	37	11	32636029	32636029	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:32636029T>C	ENST00000335185.5	-	16	1878	c.1835A>G	c.(1834-1836)gAa>gGa	p.E612G		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	612								p.E612G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TAGAGCATGTTCTCGAGTCCC	0.333000													11	31					0	0	0.010729	0	0
OR5T2	219464	broad.mit.edu	37	11	56000426	56000426	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:56000426A>C	ENST00000313264.4	-	1	311	c.236T>G	c.(235-237)aTg>aGg	p.M79R		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M79R(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAAATTTCCCATGAGAGTGAA	0.408000													11	69					0	0	0.010729	0	0
FSTL5	56884	broad.mit.edu	37	4	162577586	162577586	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr4:162577586C>T	ENST00000306100.5	-	7	1224	c.788G>A	c.(787-789)gGa>gAa	p.G263E	FSTL5_ENST00000379164.4_Missense_Mutation_p.G262E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G262E|FSTL5_ENST00000536695.1_Missense_Mutation_p.G262E|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	263	Ig-like 1.					extracellular region	calcium ion binding	p.G263E(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGCACTTTGTCCCACAGTTGC	0.403000													4	52					0	0	0.001168	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045408	76045408	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr14:76045408C>A	ENST00000238667.4	+	1	449	c.93C>A	c.(91-93)ccC>ccA	p.P31P	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	31	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.P31P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGGTCCATCCCAGCGTCTCGG	0.642000													38	38					3.33393e-15	5.19647e-15	0.004878	1	0
MAP10	54627	broad.mit.edu	37	1	232941882	232941882	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:232941882G>T	ENST00000418460.1	+	1	1240	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D		NM_019090.2	NP_061963.2			microtubule-associated protein 10									p.E371D(2)									GCCCAAAAGAGGCTGATAAGC	0.542000													12	149					0.00010058	0.000120956	0.013537	1	0
ANK1	286	broad.mit.edu	37	8	41572528	41572528	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:41572528A>T	ENST00000396942.1	-	15	1750	c.1667T>A	c.(1666-1668)cTg>cAg	p.L556Q	ANK1_ENST00000396945.1_Missense_Mutation_p.L556Q|ANK1_ENST00000289734.7_Missense_Mutation_p.L556Q|ANK1_ENST00000265709.8_Missense_Mutation_p.L589Q|ANK1_ENST00000379758.2_Missense_Mutation_p.L556Q|ANK1_ENST00000347528.4_Missense_Mutation_p.L556Q|ANK1_ENST00000352337.4_Missense_Mutation_p.L556Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	556	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.L589Q(1)|p.L556Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCCCGCTCCAGCAGCAGCTC	0.607000													7	71					0	0	0.003080	0	0
ADAM11	4185	broad.mit.edu	37	17	42850753	42850753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:42850753G>A	ENST00000200557.6	+	11	1119	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	ADAM11_ENST00000535346.1_Missense_Mutation_p.R117Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	317	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R317Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTCTACCGACGGGAGGGTCTG	0.622000													4	49					0	0	0.000602	0	0
CD93	22918	broad.mit.edu	37	20	23066732	23066732	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr20:23066732C>G	ENST00000246006.4	-	1	245	c.98G>C	c.(97-99)gGg>gCg	p.G33A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	33	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.G33A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGGCGGTCCCCACGCAGAC	0.697000													7	7					0	0	0.006214	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090841	91090841	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:91090841C>A	ENST00000373094.1	+	1	1183	c.338C>A	c.(337-339)gCc>gAc	p.A113D	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A113D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A113D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A113D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A113D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A113D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	113	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.A113D(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGGAGGTTGCCATTTTGCCG	0.398000													23	98					2.81731e-10	3.99e-10	0.010818	1	0
HTR1D	3352	broad.mit.edu	37	1	23520467	23520467	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:23520467G>T	ENST00000374619.1	-	1	755	c.246C>A	c.(244-246)acC>acA	p.T82T	HTR1D_ENST00000314113.3_Silent_p.T82T	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	82					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.T82T(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGAGGTCGGTGGTGGCCAGGG	0.537000													17	87					1.01871e-10	1.48032e-10	0.008871	1	0
KCNH7	90134	broad.mit.edu	37	2	163693088	163693088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:163693088G>T	ENST00000332142.5	-	2	365	c.266C>A	c.(265-267)tCa>tAa	p.S89*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.S89*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	89					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.S89*(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCTCTCTTCTGACCCCAGCAA	0.443000													7	35					5.4927e-09	7.51208e-09	0.004482	1	0
H6PD	9563	broad.mit.edu	37	1	9323676	9323676	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:9323676A>T	ENST00000377403.2	+	5	1426	c.1124A>T	c.(1123-1125)aAc>aTc	p.N375I	H6PD_ENST00000602477.1_Missense_Mutation_p.N386I	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	375	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	p.N375I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTGTTCAAGAACCAGGCCTGC	0.622000													17	46					0	0	0.004007	0	0
CTSG	1511	broad.mit.edu	37	14	25044575	25044575	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr14:25044575G>T	ENST00000216336.2	-	2	135	c.99C>A	c.(97-99)ccC>ccA	p.P33P		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	33	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.P33P(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ACGCCATGTAGGGGCGGGAGT	0.572000													53	66					1.19553e-41	2.00935e-41	0.014410	1	0
FMN2	56776	broad.mit.edu	37	1	240370635	240370635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:240370635C>A	ENST00000319653.9	+	5	2753	c.2523C>A	c.(2521-2523)caC>caA	p.H841Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	841	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	p.H984Q(1)		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)			AAACCAGCCACGAACACTCTG	0.562000													7	74					5.18039e-06	6.4813e-06	0.003080	1	0
SYT3	84258	broad.mit.edu	37	19	51133135	51133135	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr19:51133135G>T	ENST00000338916.4	-	3	1601	c.968C>A	c.(967-969)gCc>gAc	p.A323D	SYT3_ENST00000544769.1_Missense_Mutation_p.A323D|SYT3_ENST00000593901.1_Missense_Mutation_p.A323D|SYT3_ENST00000600079.1_Missense_Mutation_p.A323D	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	323	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.A323D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTCCAGGGCCTGCAGGAT	0.617000													5	86					0.00116845	0.00130922	0.001168	1	0
CXorf66	347487	broad.mit.edu	37	X	139038879	139038879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:139038879C>A	ENST00000370540.1	-	3	285	c.262G>T	c.(262-264)Gca>Tca	p.A88S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	88						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GACTTGGCTGCTATGCCTTTT	0.388000													5	128					5.9392e-07	7.70715e-07	0.001168	1	0
FRMPD4	9758	broad.mit.edu	37	X	12735649	12735649	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:12735649G>C	ENST00000380682.1	+	16	3210	c.2704G>C	c.(2704-2706)Gag>Cag	p.E902Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	902					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.E892Q(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTATAGTCCTGAGTCTTCGTC	0.453000													4	119					0	0	0.009096	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326709	89326709	+	RNA	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:89326709C>A	ENST00000483158.1	-	0	350																											ACTGCAAAATCTTCAGGCTCT	0.498000													11	68					1.61879e-10	2.31612e-10	0.013537	1	0
KPRP	448834	broad.mit.edu	37	1	152732100	152732100	+	Silent	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:152732100G>T	ENST00000368773.1	+	2	94	c.36G>T	c.(34-36)ccG>ccT	p.P12P	KPRP_ENST00000606109.1_Silent_p.P12P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	12	Gln-rich.					cytoplasm		p.P12P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCCTGCCGCTCCAACAGT	0.582000													37	55					1.04594e-18	1.64868e-18	0.006230	1	0
GPR111	222611	broad.mit.edu	37	6	47647951	47647951	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:47647951T>A	ENST00000398742.2	+	4	461	c.412T>A	c.(412-414)Tgg>Agg	p.W138R	GPR111_ENST00000296862.1_Missense_Mutation_p.W206R|GPR111_ENST00000507065.1_Missense_Mutation_p.W138R			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	206					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W206R(1)|p.W138R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGTCTCCCTGGATACCAGG	0.423000													23	100					0	0	0.004656	0	0
TLR4	7099	broad.mit.edu	37	9	120474988	120474988	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr9:120474988C>G	ENST00000355622.6	+	3	683	c.582C>G	c.(580-582)gaC>gaG	p.D194E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D154E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	194					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D194E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATTGCACAGACTTGCGGGTTC	0.388000													21	62					0	0	0.014323	0	0
ITGB4	3691	broad.mit.edu	37	17	73748568	73748568	+	Missense_Mutation	SNP	G	G	T	rs140930313		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:73748568G>T	ENST00000200181.3	+	32	4205	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	ITGB4_ENST00000449880.2_Missense_Mutation_p.G1340W|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.G1340W|ITGB4_ENST00000339591.3_Missense_Mutation_p.G1340W|ITGB4_ENST00000450894.3_Missense_Mutation_p.G1340W	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1340					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.G1340W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCCAGAGCGGGGAGGACTA	0.652000													9	75					0.00829132	0.00900108	0.008291	1	0
MTMR14	64419	broad.mit.edu	37	3	9726311	9726311	+	Missense_Mutation	SNP	G	G	T	rs121434509		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:9726311G>T	ENST00000296003.4	+	11	1129	c.1007G>T	c.(1006-1008)cGg>cTg	p.R336L	MTMR14_ENST00000351233.5_Missense_Mutation_p.R336L|MTMR14_ENST00000353332.5_Missense_Mutation_p.R336L|MTMR14_ENST00000420925.1_Missense_Mutation_p.R90L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	336			R -> Q (in a ADCNM patient; drastically reduced enzymatic activity).			perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.R336L(1)		breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GGCTGGGATCGGACCCCCCTC	0.577000													19	48					1.55795e-14	2.40147e-14	0.012319	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128482	68128482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:68128482G>A	ENST00000585558.1	+	4	747	c.359G>A	c.(358-360)tGg>tAg	p.W120*	KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.W85*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.W124*			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	85					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.W85*(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ATTCTCTCGTGGTTGATATTT	0.418000													8	92					0	0	0.004482	0	0
SETX	23064	broad.mit.edu	37	9	135224674	135224674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr9:135224674G>T	ENST00000372169.2	-	3	324	c.142C>A	c.(142-144)Cac>Aac	p.H48N	SETX_ENST00000393220.1_Missense_Mutation_p.H48N|SETX_ENST00000224140.5_Missense_Mutation_p.H48N			Q7Z333	SETX_HUMAN	senataxin	48					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.H48N(1)		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)		CTTGCTTTGTGGTACTCAGCC	0.438000													15	48					7.93312e-07	1.01529e-06	0.002450	1	0
VGLL1	51442	broad.mit.edu	37	X	135631167	135631167	+	Splice_Site	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:135631167T>A	ENST00000370634.3	+	3	804	c.634_splice	c.e3+1	p.Y212_splice		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.Y212N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTCAGTTCACTGTAAGGAAAT	0.547000													5	47					0	0	0.001168	0	0
SYTL4	94121	broad.mit.edu	37	X	99955913	99955913	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chrX:99955913C>G	ENST00000372981.1	-	5	705	c.519G>C	c.(517-519)caG>caC	p.Q173H	SYTL4_ENST00000276141.6_Missense_Mutation_p.Q173H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q173H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q173H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q173H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q173H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	173					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.Q173H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGCCGCTCCTGAATGATCT	0.393000													8	137					0	0	0.004482	0	0
MSH4	4438	broad.mit.edu	37	1	76345780	76345780	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:76345780A>G	ENST00000263187.3	+	13	1827	c.1723A>G	c.(1723-1725)Att>Gtt	p.I575V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	575					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.I575V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGCAGATTTAATTAAAATGAA	0.274000								Mismatch excision repair (MMR)					11	39					0	0	0.003163	0	0
TNNT3	7140	broad.mit.edu	37	11	1955213	1955213	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:1955213A>T	ENST00000381558.1	+	10	596	c.317A>T	c.(316-318)gAg>gTg	p.E106V	TNNT3_ENST00000446240.1_Missense_Mutation_p.E95V|TNNT3_ENST00000381549.3_Missense_Mutation_p.E106V|TNNT3_ENST00000381561.4_Missense_Mutation_p.E117V|TNNT3_ENST00000381579.3_Missense_Mutation_p.E106V|TNNT3_ENST00000360603.3_Missense_Mutation_p.E108V|TNNT3_ENST00000278317.6_Missense_Mutation_p.E114V|TNNT3_ENST00000397301.1_Missense_Mutation_p.E125V|TNNT3_ENST00000397304.2_Missense_Mutation_p.E95V|TNNT3_ENST00000381589.3_Missense_Mutation_p.E112V|TNNT3_ENST00000381548.3_Missense_Mutation_p.E116V|TNNT3_ENST00000493234.1_3'UTR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	125					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.E114V(1)|p.E112V(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCAGAGAAGGAGAGGGAGCGC	0.652000													5	23					0	0	0.001168	0	0
C2orf16	84226	broad.mit.edu	37	2	27805277	27805277	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:27805277T>C	ENST00000408964.2	+	1	5889	c.5838T>C	c.(5836-5838)ccT>ccC	p.P1946P		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1946										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAGTTTCCCTGGAGAGAGGC	0.542000													3	103					0	0	0.004672	0	0
COL19A1	1310	broad.mit.edu	37	6	70916660	70916660	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:70916660T>C	ENST00000322773.4	+	50	3381	c.3279T>C	c.(3277-3279)agT>agC	p.S1093S	COL19A1_ENST00000393344.1_Silent_p.S715S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1093	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.S1093S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGCCAGGGAGTCCAGGTCTTC	0.443000													9	18					0	0	0.010729	0	0
CEP44	80817	broad.mit.edu	37	4	175220304	175220304	+	Missense_Mutation	SNP	G	G	A	rs73011419	byFrequency	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr4:175220304G>A	ENST00000503780.1	+	3	446	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	CEP44_ENST00000426172.1_Missense_Mutation_p.R11Q|CEP44_ENST00000296519.4_Missense_Mutation_p.R11Q|CEP44_ENST00000457424.2_Missense_Mutation_p.R11Q	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	11						centrosome|midbody|spindle pole		p.R11Q(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AGAAGCTTACGGAACCTAGAA	0.373000													6	52					0	0	0.001984	0	0
COL22A1	169044	broad.mit.edu	37	8	139611019	139611019	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr8:139611019C>T	ENST00000303045.6	-	61	4754	c.4308G>A	c.(4306-4308)gaG>gaA	p.E1436E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.E1416E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1436	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.E1436E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGTCCATTCTCCCCAGGTA	0.622000										HNSCC(7;0.00092)			41	54					0	0	0.007835	0	0
MMP3	4314	broad.mit.edu	37	11	102709383	102709383	+	Silent	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:102709383G>A	ENST00000299855.5	-	8	1384	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	376	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.I376I(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTAGGGTGTGGATGCCTCTTG	0.383000													12	72					0	0	0.013537	0	0
LSP1	4046	broad.mit.edu	37	11	1905191	1905191	+	Silent	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:1905191C>A	ENST00000406638.2	+	5	1644	c.342C>A	c.(340-342)ccC>ccA	p.P114P	LSP1_ENST00000381775.1_Silent_p.P304P|LSP1_ENST00000311604.3_Silent_p.P176P|LSP1_ENST00000405957.2_Silent_p.P114P|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	176					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.P176P(1)|p.P114P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CCAGGACACCCAGCCCCTTGG	0.572000													23	106					1.85244e-09	2.58416e-09	0.003330	1	0
SKIV2L	6499	broad.mit.edu	37	6	31935558	31935558	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:31935558G>T	ENST00000375394.2	+	22	2763	c.2650G>T	c.(2650-2652)Gac>Tac	p.D884Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.D691Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	884						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.D884Y(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTTGTCCCAGGACCCACAGGA	0.592000													16	70					4.7546e-09	6.53465e-09	0.004007	1	0
IFNLR1	163702	broad.mit.edu	37	1	24484070	24484070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:24484070C>A	ENST00000327535.1	-	7	1125	c.1113G>T	c.(1111-1113)agG>agT	p.R371S	IFNLR1_ENST00000374421.3_Missense_Mutation_p.R342S|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1									p.R371S(1)									CCAGAGGAGCCCTGGGCCTCC	0.627000													8	33					7.48243e-07	9.62027e-07	0.006214	1	0
MAP2	4133	broad.mit.edu	37	2	210557723	210557723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:210557723G>T	ENST00000360351.4	+	7	1335	c.829G>T	c.(829-831)Gag>Tag	p.E277*	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E273*|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	277			E -> D (in a colorectal cancer sample; somatic mutation).		central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.E277*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAAAAGGATGAGTGGGGTTT	0.458000													8	58					0.00307968	0.00342323	0.003080	1	0
KIF4B	285643	broad.mit.edu	37	5	154394152	154394152	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr5:154394152G>C	ENST00000435029.4	+	1	893	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	245	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCTGGATCAGAAAGACAGAA	0.428000													3	78					0	0	0.004672	0	0
GADD45A	1647	broad.mit.edu	37	1	68153432	68153432	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:68153432C>T	ENST00000370986.4	+	4	907	c.473C>T	c.(472-474)cCa>cTa	p.P158L	GADD45A_ENST00000370985.3_Missense_Mutation_p.P124L	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	158					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding	p.P158L(1)		lung(2)|ovary(2)	4						CAATGGGTTCCAGTGATTAAT	0.388000													8	77					0	0	0.003080	0	0
ESPL1	9700	broad.mit.edu	37	12	53663492	53663492	+	Silent	SNP	T	T	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:53663492T>C	ENST00000257934.4	+	3	857	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L	ESPL1_ENST00000552462.1_Silent_p.L256L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	256					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.L256L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGCTCACCTTGGAACACTG	0.587000													5	93					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179641023	179641023	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:179641023C>G	ENST00000589042.1	-	28	5792	c.5568G>C	c.(5566-5568)gaG>gaC	p.E1856D	TTN_ENST00000591111.1_Missense_Mutation_p.E1856D|TTN_ENST00000342175.6_Missense_Mutation_p.E1810D|TTN_ENST00000360870.5_Missense_Mutation_p.E1856D|TTN_ENST00000359218.5_Missense_Mutation_p.E1810D|TTN_ENST00000342992.6_Missense_Mutation_p.E1856D|TTN_ENST00000460472.2_Missense_Mutation_p.E1810D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1571	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E1810D(3)|p.E1856D(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTGCAGTCTCCCCTTCAA	0.483000													7	153					0	0	0.003080	0	0
CARD14	79092	broad.mit.edu	37	17	78176159	78176159	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:78176159G>A	ENST00000573882.1	+	17	2695	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Missense_Mutation_p.R720H|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000570421.1_Missense_Mutation_p.R720H|CARD14_ENST00000392434.2_Missense_Mutation_p.A441T			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	720					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.R720H(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATGCCCACCGCGTGAACTCT	0.637000													10	25					0	0	0.008291	0	0
ITGA8	8516	broad.mit.edu	37	10	15688902	15688902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:15688902C>A	ENST00000378076.3	-	12	1503	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	384					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G384L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCGAATCTCCCAAACGTCTCG	0.483000													17	41					0.00741294	0.00807894	0.007413	1	0
ELP4	26610	broad.mit.edu	37	11	31648724	31648724	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:31648724G>C	ENST00000395934.2	+	6	728	c.721G>C	c.(721-723)Gat>Cat	p.D241H	ELP4_ENST00000379163.5_Missense_Mutation_p.D242H|ELP4_ENST00000350638.5_Missense_Mutation_p.D241H			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	241					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGAAGGATTTGATGGATCCAA	0.378000													3	80					0	0	0.004672	0	0
SCAND3	114821	broad.mit.edu	37	6	28541214	28541214	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr6:28541214T>A	ENST00000452236.2	-	4	3069	c.2452A>T	c.(2452-2454)Agt>Tgt	p.S818C		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	818					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.S818C(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cgcaaagcactaatgtttata	0.368000													50	130					0	0	0.014410	0	0
ITGA8	8516	broad.mit.edu	37	10	15688901	15688901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:15688901C>A	ENST00000378076.3	-	12	1504	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	384					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G384L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACCGAATCTCCCAAACGTCTC	0.483000													18	40					0.00121646	0.00135757	0.008871	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													5	295					0	0	0.001168	0	0
UROC1	131669	broad.mit.edu	37	3	126202291	126202291	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:126202291C>G	ENST00000290868.2	-	19	1864	c.1811G>C	c.(1810-1812)gGa>gCa	p.G604A	UROC1_ENST00000383579.3_Missense_Mutation_p.G664A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	604					histidine catabolic process	cytosol	urocanate hydratase activity	p.G604A(1)|p.G664A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGGCCGAATCCCCCGTTGAT	0.607000													3	25					0	0	0.004672	0	0
EXOC4	60412	broad.mit.edu	37	7	133622733	133622733	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:133622733A>T	ENST00000253861.4	+	14	2146	c.2117A>T	c.(2116-2118)gAc>gTc	p.D706V	EXOC4_ENST00000541309.1_5'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.D316V|EXOC4_ENST00000539845.1_Missense_Mutation_p.D605V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	706					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	p.D706V(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GACGTCAGTGACCTCAAAGCC	0.453000													30	73					0	0	0.008361	0	0
CDK17	5128	broad.mit.edu	37	12	96688884	96688884	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr12:96688884A>G	ENST00000261211.3	-	10	1493	c.890T>C	c.(889-891)aTt>aCt	p.I297T	CDK17_ENST00000543119.2_Missense_Mutation_p.I297T|CDK17_ENST00000542666.1_Missense_Mutation_p.I244T|CDK17_ENST00000553042.1_5'UTR	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	297	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity	p.I297T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACCACGTAGAATTTGGTACAG	0.348000													7	62					0	0	0.001984	0	0
ARID1A	8289	broad.mit.edu	37	1	27106483	27106483	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:27106483G>A	ENST00000324856.7	+	20	6465	c.6094G>A	c.(6094-6096)Gaa>Aaa	p.E2032K	ARID1A_ENST00000457599.2_Missense_Mutation_p.E1815K|ARID1A_ENST00000374152.2_Missense_Mutation_p.E1649K|ARID1A_ENST00000540690.1_Missense_Mutation_p.E360K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2032					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E2032K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACTAACTTATGAAAAGGAGGA	0.552000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	48					0	0	0.009096	0	0
TRBV30	28557	broad.mit.edu	37	7	142510501	142510501	+	RNA	SNP	C	C	A			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:142510501C>A	ENST00000417977.2	-	0	216																											CCAGAGAGAGCGGGCTGCCCA	0.572000													5	12					0.00116845	0.00130922	0.001168	1	0
FRYL	285527	broad.mit.edu	37	4	48583536	48583536	+	Silent	SNP	C	C	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr4:48583536C>T	ENST00000358350.4	-	21	2677	c.2073G>A	c.(2071-2073)gcG>gcA	p.A691A	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.A691A|FRYL_ENST00000506685.1_Silent_p.A397A|FRYL_ENST00000503238.1_Silent_p.A691A|FRYL_ENST00000537810.1_Silent_p.A691A	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	691					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.A691A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAATGACAAGCGCAAAGCCTT	0.468000													4	50					0	0	0.009096	0	0
TRIM22	10346	broad.mit.edu	37	11	5730336	5730336	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr11:5730336G>T	ENST00000379965.3	+	8	1232	c.955G>T	c.(955-957)Gat>Tat	p.D319Y	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	319	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.D319Y(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATTTCTGTGGATCAGAGACA	0.418000													13	95					5.50884e-06	6.83096e-06	0.013537	1	0
ADCY10	55811	broad.mit.edu	37	1	167787447	167787447	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:167787447G>C	ENST00000367848.1	-	31	4566	c.4069C>G	c.(4069-4071)Ctt>Gtt	p.L1357V	ADCY10_ENST00000545172.1_Missense_Mutation_p.L1296V|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1449V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1449					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.L1449I(1)|p.L1449V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTTGGCAAAAGATTTTTAGCT	0.373000													5	109					0	0	0.000602	0	0
ZNF79	7633	broad.mit.edu	37	9	130198191	130198191	+	Silent	SNP	T	T	G			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr9:130198191T>G	ENST00000342483.5	+	4	643	c.237T>G	c.(235-237)ctT>ctG	p.L79L	ZNF79_ENST00000543471.1_Silent_p.L55L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L79L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAATAGGACTTCCAGTTTCCC	0.507000													13	97					0	0	0.004990	0	0
EGFR	1956	broad.mit.edu	37	7	55249007	55249007	+	Missense_Mutation	SNP	G	G	T	rs147149347		TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr7:55249007G>T	ENST00000275493.2	+	20	2482	c.2305G>T	c.(2305-2307)Gtg>Ttg	p.V769L	EGFR_ENST00000454757.2_Missense_Mutation_p.V716L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.V724L|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	769	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V769L(3)|p.S768_V769>IL(1)|p.V769M(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATGGCCAGCGTGGACAACCC	0.637000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			19	77					3.28513e-13	4.95433e-13	0.003954	1	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	6	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186106738	186106739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr1:186106738_186106739insT	ENST00000271588.4	+	88	13920_13921	c.13691_13692insT	c.(13690-13692)gggfs	p.G4564fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.G4564fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4564	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGCCAATGGTGGGAAGCCCT	0.485													8	52	---	---	---	---					
LOC728323	728323	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299													2	4	---	---	---	---					
GALNT15	117248	broad.mit.edu	37	3	16250019	16250019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr3:16250019delG	ENST00000339732.5	+	4	1424	c.921delG	c.(919-921)gtfs	p.V308fs	GALNT15_ENST00000437509.1_Frame_Shift_Del_p.V308fs	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGAGCCGAGTGGTATCTCCGG	0.498													13	259	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98498314	98498314	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr7:98498314delT	ENST00000359863.4	+	11	1077	c.868delT	c.(868-870)ttfs	p.F290fs	TRRAP_ENST00000355540.3_Frame_Shift_Del_p.F290fs|TRRAP_ENST00000446306.3_Frame_Shift_Del_p.F290fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	290					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACATTGTCATTTTTAGCTTA	0.328													36	139	---	---	---	---					
DNA2	1763	broad.mit.edu	37	10	70191626	70191644	+	Frame_Shift_Del	DEL	CATATCGTAGTTGTTTTTC	CATATCGTAGTTGTTTTTC	-	rs61855090	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr10:70191626_70191644delCATATCGTAGTTGTTTTTC	ENST00000399180.2	-	13	2215_2233	c.2216_2234delGAAAAACAACTACGATATG	c.(2215-2235)gtfs	p.GKTTTIC739fs	DNA2_ENST00000358410.3_Frame_Shift_Del_p.GKTTTIC653fs|DNA2_ENST00000399179.2_Frame_Shift_Del_p.GKTTTIC653fs			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	653					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TACGAGAGTACATATCGTAGTTGTTTTTCCTGTCCCAGG	0.370													10	166	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1027368	1027368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr11:1027368delG	ENST00000421673.2	-	17	2181	c.2131delC	c.(2131-2133)aafs	p.Q711fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	711					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGCCCTTTTGGTTCAGGTAG	0.632													36	132	---	---	---	---					
CWC25	54883	broad.mit.edu	37	17	36981429	36981429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr17:36981429delC	ENST00000225428.4	-	1	305	c.8delG	c.(7-9)gcfs	p.G4fs	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	4										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CAGGTCTCCGCCCCCCATGAC	0.607													2	4	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													2	4	---	---	---	---					
RP4-734C18.1	0	broad.mit.edu	37	20	11256464	11256465	+	RNA	INS	-	-	CTTC	rs28653622	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	3ca8208a-ca5b-45e8-968d-9f47b6201fd1	g.chr20:11256464_11256465insCTTC	ENST00000444792.1	-	0	303																											ttgcttcctttcttccttcctt	0.465													3	3	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186106738	186106739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr1:186106738_186106739insT	ENST00000271588.4	+	88	13920_13921	c.13691_13692insT	c.(13690-13692)gggfs	p.G4564fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.G4564fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4564	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGCCAATGGTGGGAAGCCCT	0.485													8	52	---	---	---	---					
LOC728323	728323	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299													2	4	---	---	---	---					
GALNT15	117248	broad.mit.edu	37	3	16250019	16250019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr3:16250019delG	ENST00000339732.5	+	4	1424	c.921delG	c.(919-921)gtfs	p.V308fs	GALNT15_ENST00000437509.1_Frame_Shift_Del_p.V308fs	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGAGCCGAGTGGTATCTCCGG	0.498													13	259	---	---	---	---					
DNA2	1763	broad.mit.edu	37	10	70191626	70191644	+	Frame_Shift_Del	DEL	CATATCGTAGTTGTTTTTC	CATATCGTAGTTGTTTTTC	-	rs61855090	by1000genomes	TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr10:70191626_70191644delCATATCGTAGTTGTTTTTC	ENST00000399180.2	-	13	2215_2233	c.2216_2234delGAAAAACAACTACGATATG	c.(2215-2235)gtfs	p.GKTTTIC739fs	DNA2_ENST00000399179.2_Frame_Shift_Del_p.GKTTTIC653fs|DNA2_ENST00000358410.3_Frame_Shift_Del_p.GKTTTIC653fs			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	653					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TACGAGAGTACATATCGTAGTTGTTTTTCCTGTCCCAGG	0.370													10	166	---	---	---	---					
CWC25	54883	broad.mit.edu	37	17	36981429	36981429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6147-01A-11D-1753-08	TCGA-44-6147-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6daa70-492e-4283-b3d2-b26f4e26a8d4	40bb6156-6317-4d2d-ac82-aa732cad7d40	g.chr17:36981429delC	ENST00000225428.4	-	1	305	c.8delG	c.(7-9)gcfs	p.G4fs	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	4										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CAGGTCTCCGCCCCCCATGAC	0.607													2	4	---	---	---	---					
