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
ARHGAP44	9912	broad.mit.edu	37	17	12888219	12888219	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:12888219T>G	ENST00000379672.5	+	20	2611	c.2311T>G	c.(2311-2313)Tct>Gct	p.S771A	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S765A|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S771A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	771					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGAAAGCATGTCTACAGGTAA	0.532000													4	82					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614464	3614464	+	RNA	SNP	G	G	A	rs150523532	by1000genomes	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3614464G>A	ENST00000301749.7	-	0	879				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGGCGGACGAAGTGCCTCA	0.657000													20	67					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932815	79932815	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:79932815G>A	ENST00000373275.4	-	41	4918	c.4702C>T	c.(4702-4704)Cgg>Tgg	p.R1568W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1568										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTCCTGTCCGGGGCTCTCTG	0.358000													68	81					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71606159	71606159	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:71606159C>T	ENST00000265382.3	+	15	1911	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.536_536insF	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TGCTTCTGTGCTTGACGTCTA	0.433000													25	160					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128879233	128879233	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:128879233G>T	ENST00000371106.3	+	4	481	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G97W	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	97					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCTTTACAGGGTCTGCAGG	0.493000													3	78					0.004672	0.00479078	1	1	0
CCDC64	92558	broad.mit.edu	37	12	120509568	120509568	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:120509568G>A	ENST00000397558.2	+	5	1052	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	CCDC64_ENST00000257583.4_5'UTR|CCDC64_ENST00000446727.2_Missense_Mutation_p.S95N	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	351					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGAGCAGAGCATGGAGGCT	0.612000													21	16					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748635	94748635	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:94748635C>A	ENST00000399300.2	-	3	217	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A2S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	2							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATGACTACAGCCATGCTGAGC	0.433000													8	202					0.000157383	0.000165595	1	1	0
GRIN2A	0	broad.mit.edu	37	16	9934647	9934647	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:9934647T>G	ENST00000396573.2	-	8	1817	c.1508A>C	c.(1507-1509)cAa>cCa	p.Q503P	GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q346P|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q503P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q503P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q503P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	503					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACTGCCCGTTGATAGACCAC	0.453000													21	86					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128481609	128481609	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:128481609G>A	ENST00000325888.8	+	13	2370	c.2109G>A	c.(2107-2109)aaG>aaA	p.K703K	FLNC_ENST00000346177.6_Silent_p.K703K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	703					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGACCTGAAGCTCTATGCCC	0.622000													33	250					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42829299	42829299	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:42829299G>T	ENST00000307602.4	+	13	1483	c.1283G>T	c.(1282-1284)cGt>cTt	p.R428L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	428					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGAGCTTCGTTGTGTACAA	0.408000			T	RET	papillary thyroid								10	278					4.68919e-08	5.11164e-08	1	1	0
ARAP2	116984	broad.mit.edu	37	4	36179548	36179548	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:36179548A>G	ENST00000303965.4	-	9	2247	c.1758T>C	c.(1756-1758)gtT>gtC	p.V586V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	586					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCAGGTGTAACAACAGCTT	0.393000													57	167					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752473	247752473	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:247752473G>A	ENST00000320065.1	+	1	812	c.812G>A	c.(811-813)aGg>aAg	p.R271K	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTAGATCCAGGGACCAGGGC	0.478000													205	143					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577865	16577865	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:16577865C>T	ENST00000375592.3	-	10	1670	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGATCCTCGTCGGGGGGCCAA	0.483000													75	82					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086322	53086322	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:53086322G>A	ENST00000540331.1	+	5	1433	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R337H|ZNF701_ENST00000301093.2_Missense_Mutation_p.R403H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTTTTCAGTCGCAAATCACAC	0.398000													5	207					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149919215	149919215	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:149919215G>A	ENST00000369135.3	-	11	1554	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	420	Catalytic.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GATGCAATTTGACCTCTAGGG	0.418000													40	46					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47033952	47033952	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:47033952G>A	ENST00000295454.3	+	2	394	c.102G>A	c.(100-102)atG>atA	p.M34I	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	34					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGCAACATGTCATACGTGA	0.453000													73	272					0	0	1	0	0
U66061.31	0	broad.mit.edu	37	7	142423410	142423410	+	RNA	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:142423410A>G	ENST00000506718.1	+	0	418				TRBV27_ENST00000390399.3_RNA																							TGGAAGCCCAAGTGACCCAGA	0.498000													4	241					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46490455	46490455	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:46490455C>T	ENST00000231751.4	-	9	1406	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	LTF_ENST00000417439.1_Missense_Mutation_p.E371K|LTF_ENST00000426532.2_Missense_Mutation_p.E327K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	371	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGCTCCTGCTCGCCCACCGCA	0.662000													19	26					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113349859	113349859	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:113349859G>A	ENST00000297405.5	-	43	6998	c.6754C>T	c.(6754-6756)Cca>Tca	p.P2252S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12.					integral to membrane|plasma membrane				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						GTGTATCCTGGGAAACATTCA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	347					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122928983	122928983	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:122928983T>C	ENST00000534624.1	-	8	2008	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V	HSPA8_ENST00000227378.3_Missense_Mutation_p.I578V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I342V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.I559V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I432V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I578V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	578					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCCAGTTGATAATTTCATTA	0.393000													5	226					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108351853	108351853	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:108351853G>A	ENST00000361582.3	+	9	980	c.750G>A	c.(748-750)acG>acA	p.T250T	DZIP3_ENST00000463306.1_Silent_p.T250T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	250					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGAAGCAGACGATTTGTAGTT	0.274000													5	482					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46531996	46531996	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:46531996A>G	ENST00000328306.4	-	4	695	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	224					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCAATAATGAAGCATGAAACA	0.383000													77	101					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266802	124266802	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:124266802T>A	ENST00000354597.3	-	1	462	c.446A>T	c.(445-447)tAc>tTc	p.Y149F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCCCATTATGTAAGCAGCAAA	0.473000													9	46					0	0	1	0	0
CHCHD7	79145	broad.mit.edu	37	8	57129008	57129008	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:57129008C>A	ENST00000523975.1	+	4	255	c.107C>A	c.(106-108)aCc>aAc	p.T36N	CHCHD7_ENST00000519367.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000355315.3_Missense_Mutation_p.T24N|CHCHD7_ENST00000521524.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000303759.3_Missense_Mutation_p.T49N|CHCHD7_ENST00000396723.5_Missense_Mutation_p.T33N|CHCHD7_ENST00000523061.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000521831.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000518801.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000517933.1_Missense_Mutation_p.T24N			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	24	CHCH.								CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GATGCTTCCACCAGATGTCTG	0.398000			T	PLAG1	salivary adenoma								5	201					0.000602214	0.000622803	1	1	0
FAM50B	26240	broad.mit.edu	37	6	3850197	3850197	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:3850197C>T	ENST00000380274.1	+	1	578	c.152C>T	c.(151-153)gCg>gTg	p.A51V	FAM50B_ENST00000380272.3_Missense_Mutation_p.A51V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	51						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGGTTCTCGGCGCATTACGAC	0.647000													3	51					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462403	5462403	+	Silent	SNP	T	T	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:5462403T>A	ENST00000380211.1	-	1	341	c.342A>T	c.(340-342)tcA>tcT	p.S114S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTATGCCTGACTCCATGA	0.458000													4	122					0	0	1	0	0
CXCL6	6372	broad.mit.edu	37	4	74702739	74702739	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:74702739G>A	ENST00000226317.5	+	2	422	c.168G>A	c.(166-168)ctG>ctA	p.L56L	CXCL6_ENST00000515050.1_Silent_p.L56L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	56					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGTTACGCTGAGAGTAAACC	0.532000													74	7					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721259	222721259	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:222721259G>T	ENST00000343410.6	-	1	186	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	43					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCACTGGGGGTGTCCCTG	0.602000													14	70					9.31168e-06	9.97091e-06	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27804907	27804907	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:27804907G>A	ENST00000408964.2	+	1	5519	c.5468G>A	c.(5467-5469)cGc>cAc	p.R1823H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1823	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									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)					AGGAGCCATCGCAGTCCCTCT	0.552000													106	145					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	155					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151935819	151935819	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:151935819A>G	ENST00000355193.2	-	15	2843	c.2625T>C	c.(2623-2625)ccT>ccC	p.P875P	KMT2C_ENST00000262189.6_Silent_p.P875P					lysine (K)-specific methyltransferase 2C																		TGGCACTGCCAGGAAGCTGCC	0.423000													13	279					0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103226348	103226348	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:103226348G>C	ENST00000251810.3	-	7	966	c.723C>G	c.(721-723)taC>taG	p.Y241*	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Nonsense_Mutation_p.Y29*|RRM2B_ENST00000395912.2_Nonsense_Mutation_p.Y189*	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	241					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TATTTACTAAGTATTGGAACA	0.378000								Modulation of nucleotide pools					32	193					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1343335	1343335	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:1343335G>A	ENST00000389851.4	+	3	569	c.122G>A	c.(121-123)cGc>cAc	p.R41H	UVSSA_ENST00000511216.1_Missense_Mutation_p.R41H|UVSSA_ENST00000507531.1_Missense_Mutation_p.R41H	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	41																	CAGCTGAGCCGCGCCTACCGC	0.632000													15	55					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679419	100679419	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:100679419A>G	ENST00000306151.4	+	3	4786	c.4722A>G	c.(4720-4722)ccA>ccG	p.P1574P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1574	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GAAGCACTCCACTAACAAGTT	0.488000													9	557					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72040546	72040546	+	RNA	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:72040546G>C	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TGGGATCAAAGCTTCTTTCAT	0.398000													4	216					0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73002695	73002695	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:73002695C>G	ENST00000377126.2	-	2	1992	c.732G>C	c.(730-732)ttG>ttC	p.L244F		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	244					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCACCTCACAAAGCGTTGG	0.587000													22	126					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179536914	179536914	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:179536914C>A	ENST00000589042.1	-	155	35235	c.35011G>T	c.(35011-35013)Gta>Tta	p.V11671L	TTN_ENST00000591111.1_Missense_Mutation_p.V11297L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V10370L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11537	Glu-rich.|Pro-rich.						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)			tctgcttctactacttctaat	0.363000													3	20					1	1	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								71	76					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47908750	47908750	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:47908750G>A	ENST00000426837.2	-	17	6574	c.6487C>T	c.(6487-6489)Cct>Tct	p.P2163S	MAP4_ENST00000395734.3_Missense_Mutation_p.P1018S|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.P1018S|MAP4_ENST00000420772.2_Missense_Mutation_p.P711S|MAP4_ENST00000441748.2_Missense_Mutation_p.P132S|MAP4_ENST00000264724.11_Missense_Mutation_p.P753S			P27816	MAP4_HUMAN	microtubule-associated protein 4	1018					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCACCTCCAGGGACATGCTTA	0.448000													125	146					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289088	125289088	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:125289088G>A	ENST00000304880.2	-	1	484	c.485C>T	c.(484-486)gCt>gTt	p.A162V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGACAACCGAGCCATGAGGAA	0.512000													16	96					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109937508	109937508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:109937508C>A	ENST00000218054.4	-	8	854	c.658G>T	c.(658-660)Gga>Tga	p.G220*	CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.G214*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.G221*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.G220*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	214					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GACAGACCTCCAGCCTGTCGG	0.473000													53	181					9.55421e-19	1.07042e-18	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101575025	101575025	+	Silent	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:101575025A>G	ENST00000310954.6	-	12	2230	c.1944T>C	c.(1942-1944)aaT>aaC	p.N648N		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	648					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCCACAATCATTTATATCCC	0.343000													21	122					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777784	152777784	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152777784C>T	ENST00000368768.1	-	2	221	c.171G>A	c.(169-171)ggG>ggA	p.G57G	LCE1C_ENST00000607093.1_Silent_p.G57G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	57	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCTGCCCCCAGAGCTGG	0.667000													82	82					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297887	62297887	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATTTTGGCCCCTTAAGAT	0.493000													5	535					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral to membrane		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542000													5	286					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92941692	92941692	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:92941692C>T	ENST00000370332.1	-	7	1481	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GFI1_ENST00000427103.1_Missense_Mutation_p.R388H|GFI1_ENST00000294702.5_Missense_Mutation_p.R388H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	388					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGTGTTTGCGGCTGTGGGT	0.622000													20	24					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98349621	98349621	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:98349621C>G	ENST00000264972.5	+	6	951	c.736C>G	c.(736-738)Ctc>Gtc	p.L246V	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.L120V	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	246	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGGACGGGCTCATCTACTG	0.682000													3	75					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27856589	27856589	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:27856589G>A	ENST00000396319.2	+	15	2105	c.2017G>A	c.(2017-2019)Gtt>Att	p.V673I	TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V474I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V631I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V631I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V697I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	673					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAAGACAATGTTGTCTGCAG	0.453000													31	264					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49851213	49851213	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:49851213C>T	ENST00000376088.3	+	11	1884	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	CLCN5_ENST00000376108.3_Missense_Mutation_p.R345W|CLCN5_ENST00000376091.3_Missense_Mutation_p.R415W|CLCN5_ENST00000307367.2_Missense_Mutation_p.R345W	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	345					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGCCTGGTGTCGGAAGCGAAA	0.522000													68	81					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605952	58605952	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr14:58605952G>A	ENST00000267485.7	-	2	319	c.125C>T	c.(124-126)gCg>gTg	p.A42V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	42						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCCTTTTTCCGCATGAACATG	0.473000													5	401					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30882096	30882096	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:30882096C>A	ENST00000251071.5	-	8	2018	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W423L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W423L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W90L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W423L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	423					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGAAGCCTCCCAGGACTTAAA	0.468000													58	181					1.27334e-21	1.43994e-21	1	1	0
TGOLN2	10618	broad.mit.edu	37	2	85554507	85554507	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:85554507C>T	ENST00000377386.3	-	2	810	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGTGGTCTGCGCCTCCGAAC	0.572000													8	1409					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33581715	33581715	+	Nonsense_Mutation	SNP	C	C	T	rs144223467	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:33581715C>T	ENST00000170564.2	+	3	552	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	80						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTGTCTTCACGACAGAACAG	0.388000													4	273					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356568	10356568	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10356568C>G	ENST00000255381.2	-	24	3122	c.3012G>C	c.(3010-3012)caG>caC	p.Q1004H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1004					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGTGGGCCTCCTGGAGAGCCT	0.498000													7	534					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57575037	57575037	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:57575037C>T	ENST00000243077.3	+	34	6091	c.5625C>T	c.(5623-5625)gcC>gcT	p.A1875A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1875	EGF-like 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGCACAGCCGGCTATAGCC	0.642000													47	88					0	0	1	0	0
PTCD2	79810	broad.mit.edu	37	5	71616216	71616216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:71616216C>T	ENST00000380639.5	+	1	23	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R3*|PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R3*	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	3										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TGGTATGGTCCGAGACAGTAT	0.612000													4	106					0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18660259	18660259	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	180	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587000													44	144					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363970	22363970	+	Silent	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:22363970G>T	ENST00000397121.2	-	3	866	c.549C>A	c.(547-549)acC>acA	p.T183T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	183				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAAGTAAGGGTTGAGGACC	0.348000													23	148					2.98393e-07	3.22371e-07	1	1	0
ULBP3	79465	broad.mit.edu	37	6	150387113	150387113	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:150387113G>T	ENST00000367339.1	-	2	302	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L92M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	92	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		AGCATTTCCAGTTGTTTTCCC	0.507000													61	201					2.18419e-29	2.49328e-29	1	1	0
FAM209B	388799	broad.mit.edu	37	20	55108405	55108405	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr20:55108405C>G	ENST00000371325.1	+	1	104	c.8C>G	c.(7-9)aCg>aGg	p.T3R		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	3						integral to membrane											ACCATGTGGACGCTGAAATCG	0.562000													24	147					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86617400	86617400	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:86617400G>A	ENST00000325875.3	+	3	1831	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	500					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTAATGGCCAGCAAACCAAAG	0.363000													5	506					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6412705	6412705	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:6412705T>C	ENST00000342245.4	+	2	578	c.410T>C	c.(409-411)gTc>gCc	p.V137A	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.V136A|SMPD1_ENST00000356761.2_Missense_Mutation_p.V137A|SMPD1_ENST00000299397.3_Missense_Mutation_p.V137A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	135	Saposin B-type.		L -> P (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAATCCATTGTCCACCTCTTT	0.602000													11	37					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			113	5					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10303745	10303745	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10303745C>A	ENST00000403437.2	-	27	3791	c.3697G>T	c.(3697-3699)Gac>Tac	p.D1233Y	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1233					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTGAGGTCATCAGTCTCC	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				83	227					6.64032e-35	7.65218e-35	1	1	0
EPX	8288	broad.mit.edu	37	17	56274334	56274334	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:56274334G>A	ENST00000225371.5	+	7	946	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	279					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AAGAACCAGCGTGACTGCATC	0.577000													41	309					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202817	56202817	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56202817C>A	ENST00000361673.3	-	5	4815	c.4602G>T	c.(4600-4602)ttG>ttT	p.L1534F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1534							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGGGGAAATCAATTCTGCTT	0.463000													24	124					1.64293e-13	1.82381e-13	1	1	0
TESPA1	9840	broad.mit.edu	37	12	55367280	55367280	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:55367280C>A	ENST00000449076.1	-	3	319	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.D63Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	63																	TGCAGCCAGTCTTCAATTTTA	0.458000													4	142					0.150653	0.151909	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27493471	27493471	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:27493471G>A	ENST00000527372.1	-	2	668	c.488C>T	c.(487-489)cCc>cTc	p.P163L	MYO18A_ENST00000354329.4_Missense_Mutation_p.P163L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P163L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P163L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	163					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGTGGCGAGGGGGCGGCAGA	0.627000													6	55					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45223763	45223763	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:45223763A>G	ENST00000372217.1	+	12	1364	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	KIF2C_ENST00000372224.4_Missense_Mutation_p.K392R|KIF2C_ENST00000372218.4_Missense_Mutation_p.K351R|KIF2C_ENST00000372222.3_Missense_Mutation_p.K279R			Q99661	KIF2C_HUMAN	kinesin family member 2C	392	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGCTACCGGAAGTTGGGCCTG	0.522000													104	135					0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140336553	140336553	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:140336553C>G	ENST00000358993.2	-	1	76	c.38G>C	c.(37-39)aGc>aCc	p.S13T		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	13						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ACAGGGGACGCTCCTCTTCAC	0.507000													5	230					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155166890	155166890	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:155166890G>A	ENST00000368378.3	-	21	2634	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	THBS3_ENST00000541990.1_Missense_Mutation_p.R401W|THBS3_ENST00000541576.1_Missense_Mutation_p.R269W|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000487250.1_Intron|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCTTGTCCCGCCAGCCCACA	0.622000													4	133					0	0	1	0	0
PRICKLE1	0	broad.mit.edu	37	12	42854058	42854058	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:42854058G>A	ENST00000455697.1	-	8	2334	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	PRICKLE1_ENST00000548696.1_Silent_p.S683S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.S683S|PRICKLE1_ENST00000445766.2_Silent_p.S683S|PRICKLE1_ENST00000345127.3_Silent_p.S683S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	683					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGCATTGTCGGAGCGGGACT	0.483000													4	175					0	0	1	0	0
PLA2R1	0	broad.mit.edu	37	2	160862319	160862319	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:160862319A>T	ENST00000283243.7	-	11	1884	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F560I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	560	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		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						CTGGTAATAAAAGCCTGTTCA	0.363000													102	164					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12279789	12279789	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:12279789G>A	ENST00000261349.4	-	20	4224	c.4148C>T	c.(4147-4149)aCc>aTc	p.T1383I	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.T1338I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1383					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACAAAAATGGTGACAATTAC	0.408000													35	158					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441697	114441697	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:114441697C>T	ENST00000375478.3	-	6	1778	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	NXPE4_ENST00000424261.2_Missense_Mutation_p.G249E	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AATCTGATTTCCGACTACATG	0.313000													33	132					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24985856	24985856	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr22:24985856T>C	ENST00000318753.8	-	2	262	c.239A>G	c.(238-240)aAc>aGc	p.N80S	GGT1_ENST00000248923.4_Intron|FAM211B_ENST00000495297.1_5'UTR	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	80																	GTCGACCGGGTTGAGGAAGGC	0.627000													20	24					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99532924	99532924	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:99532924G>A	ENST00000376460.1	-	26	2828	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y	DOCK9_ENST00000339416.2_Silent_p.Y917Y|DOCK9_ENST00000448493.2_Silent_p.Y928Y|DOCK9_ENST00000442173.1_Silent_p.Y916Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	917					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTATACGCGTACTTTGAAG	0.463000													21	33					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324115	152324115	+	Silent	SNP	G	G	A	rs146074268		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152324115G>A	ENST00000388718.5	-	3	6219	c.6147C>T	c.(6145-6147)caC>caT	p.H2049H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2049							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCATGAGCGTGTCCTGAAT	0.532000													15	969					0	0	1	0	0
LRRC39	127495	broad.mit.edu	37	1	100621829	100621829	+	Silent	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:100621829G>A	ENST00000370138.1	-	7	756	c.558C>T	c.(556-558)aaC>aaT	p.N186N	LRRC39_ENST00000370137.1_Silent_p.N186N|LRRC39_ENST00000342895.3_Silent_p.N186N	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	186										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TAGTAAAATCGTTCATACTCA	0.383000													5	110					0	0	1	0	0
RPL23AP53	0	broad.mit.edu	37	8	163476	163476	+	RNA	SNP	G	G	A	rs146807239	by1000genomes	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:163476G>A	ENST00000606975.1	-	0	445																											AGTGGTCAGCGGAAACTTGAT	0.527000													4	160					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54877008	54877008	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:54877008G>A	ENST00000333896.5	+	25	5805	c.5420G>A	c.(5419-5421)cGt>cAt	p.R1807H	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1820H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1820	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATCTTTGGGCGTATACAGGAC	0.483000													4	141					0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113607355	113607355	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:113607355C>T	ENST00000200135.3	-	15	2350	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	736					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCCCCAATTTCTTGCAAGCTG	0.413000													83	288					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485304	97485304	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:97485304A>G	ENST00000376705.2	+	2	1292	c.1268A>G	c.(1267-1269)aAg>aGg	p.K423R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	423						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACCACACCAAGCAGCTAGAG	0.592000													83	111					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133045014	133045014	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:133045014G>T	ENST00000207771.3	-	7	1305	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ACGTTTCCAGGTCAGTGGTTT	0.408000													7	56					8.12818e-05	8.62728e-05	1	1	0
C8B	732	broad.mit.edu	37	1	57397487	57397487	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:57397487C>T	ENST00000543257.1	-	12	2027	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	C8B_ENST00000535057.1_Silent_p.R477R|C8B_ENST00000371237.4_Silent_p.R539R	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	539	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTACTCTTCCGATAGGAGA	0.502000													16	56					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672488	49672488	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:49672488T>C	ENST00000561648.1	-	4	628	c.575A>G	c.(574-576)aAg>aGg	p.K192R	ZNF423_ENST00000262383.2_Missense_Mutation_p.K192R|ZNF423_ENST00000563137.2_Missense_Mutation_p.K132R|ZNF423_ENST00000567169.1_Missense_Mutation_p.K75R|ZNF423_ENST00000562520.1_Missense_Mutation_p.K132R|ZNF423_ENST00000562871.1_Missense_Mutation_p.K132R|ZNF423_ENST00000535559.1_Missense_Mutation_p.K75R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	192					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGATACTTCTTGTCGCCCGT	0.587000													5	44					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72300242	72300242	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:72300242T>C	ENST00000334456.5	-	12	1161	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	PDE2A_ENST00000444035.2_Missense_Mutation_p.I297V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Missense_Mutation_p.I191V|PDE2A_ENST00000540345.1_Missense_Mutation_p.I297V|PDE2A_ENST00000544570.1_Missense_Mutation_p.I299V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	306	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTCAGCTGGATGGACTTCTTG	0.602000													25	24					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121769018	121769018	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:121769018A>G	ENST00000282561.3	+	2	1182	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	342					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GATGATAACCAGAATTCTAAA	0.498000													91	68					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3075924	3075924	+	Splice_Site	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3075924G>C	ENST00000326266.8	+	3	451		c.e3-1		THOC6_ENST00000574549.1_Splice_Site|THOC6_ENST00000575576.1_Splice_Site|THOC6_ENST00000253952.9_Splice_Site	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTCCCTGCAGCTTGTCCTCT	0.582000													5	254					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161887	142161887	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:142161887C>T	ENST00000519811.1	+	7	1095	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	DENND3_ENST00000424248.1_Missense_Mutation_p.T262M|DENND3_ENST00000262585.2_Missense_Mutation_p.T262M			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	262										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCCCCACGTCCTTCCTG	0.547000													86	111					0	0	1	0	0
ZNF561	93134	broad.mit.edu	37	19	9721559	9721559	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:9721559T>C	ENST00000302851.3	-	6	1141	c.778A>G	c.(778-780)Aaa>Gaa	p.K260E	ZNF561_ENST00000424629.1_Missense_Mutation_p.K191E|ZNF561_ENST00000354661.4_Missense_Mutation_p.K124E|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GTGAAGGATTTCCCACATTTC	0.368000													57	163					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86386583	86386583	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:86386583G>C	ENST00000285379.5	+	4	612	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACCAAATATGGGGATTTTGG	0.398000													5	425					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587000													27	26					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129843238	129843238	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:129843238C>T	ENST00000338144.3	-	4	445	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000370927.1_Missense_Mutation_p.V10I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	10					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTTCGTAGACCCACAGCCAT	0.423000													26	147					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185798911	185798911	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:185798911A>G	ENST00000306376.5	-	6	532	c.286T>C	c.(286-288)Tcc>Ccc	p.S96P	ETV5_ENST00000537818.1_Missense_Mutation_p.S138P|ETV5_ENST00000434744.1_Missense_Mutation_p.S96P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	96					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTCAGAGGAGGGGCTGTGC	0.522000			T	"""TMPRSS2, SCL45A3"""	Prostate								9	323					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41383253	41383253	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:41383253G>A	ENST00000318588.9	-	26	2585	c.2540C>T	c.(2539-2541)cCt>cTt	p.P847L	CASK_ENST00000378163.1_Missense_Mutation_p.P852L|CASK_ENST00000442742.2_Missense_Mutation_p.P824L|CASK_ENST00000378166.4_Missense_Mutation_p.P847L|CASK_ENST00000361962.4_Missense_Mutation_p.P835L|CASK_ENST00000378158.1_Missense_Mutation_p.P835L|CASK_ENST00000421587.2_Missense_Mutation_p.P823L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	852	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AACAACAAAAGGAGCAAACTC	0.353000													3	84					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64030204	64030204	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:64030204G>A	ENST00000540288.1	+	19	2382	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	PLCB3_ENST00000279230.6_Missense_Mutation_p.R760H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R693H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	760	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GATACGCGGCGCAAGTACCGC	0.637000													6	173					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722740	64722740	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:64722740C>T	ENST00000338957.4	+	5	2229	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P710L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	710							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACGACCTCCCCTGTGCCGG	0.602000													47	49					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38506633	38506633	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:38506633G>A	ENST00000263409.4	-	8	1255	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTGTAGCACGTGGGCCCACC	0.418000			T	PLAG1	salivary adenoma								67	72					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39283896	39283896	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:39283896G>A	ENST00000426016.1	-	5	543	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	SOS1_ENST00000428721.2_Missense_Mutation_p.R96W|SOS1_ENST00000395038.2_Missense_Mutation_p.R153W|SOS1_ENST00000402219.2_Missense_Mutation_p.R153W			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	153					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATAATGCCGTATATTTCTT	0.308000									Noonan syndrome				5	557					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19076984	19076984	+	Silent	SNP	C	C	T			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:19076984C>T	ENST00000329773.2	-	2	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	322					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCGACATCTCCGGGGTGCCCT	0.557000													7	92					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691183	90691183	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:90691183G>A	ENST00000312600.3	+	2	821	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PABPC5_ENST00000373105.1_Missense_Mutation_p.V39I	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	203	RRM 3.					cytoplasm	nucleotide binding|RNA binding	p.V203I(2)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAATGTTTTCGTTAAAAACAT	0.448000													6	127					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32420980	32420980	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:32420980T>C	ENST00000379923.1	+	9	1131	c.925T>C	c.(925-927)Ttt>Ctt	p.F309L	ACO1_ENST00000309951.5_Missense_Mutation_p.F309L|ACO1_ENST00000541043.1_Missense_Mutation_p.F210L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	309					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTGCTGCCTTTTTCCCAGT	0.483000													5	748					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179563643	179563644	+	Splice_Site	INS	-	-	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:179563643_179563644insA	ENST00000589042.1	-	112	30907		c.e112-2		TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TTTTGGTAACTaaaaaaaaaaa	0.277													3	5	---	---	---	---					
RP11-453E17.1	0	broad.mit.edu	37	4	68632427	68632428	+	RNA	INS	-	-	TATA			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:68632427_68632428insTATA	ENST00000500538.2	+	0	1905				RP11-453E17.1_ENST00000502758.1_RNA																							acaTATATATActtattatttt	0.431													3	2	---	---	---	---					
CTC-419K13.1	0	broad.mit.edu	37	5	73726286	73726286	+	RNA	DEL	A	A	-	rs148954741		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:73726286delA	ENST00000507781.1	-	0	422																											acagccacccaacgtgatgag	0.567													2	4	---	---	---	---					
AC004901.1	0	broad.mit.edu	37	7	47065866	47065869	+	RNA	DEL	ATCT	ATCT	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:47065866_47065869delATCT	ENST00000433337.1	-	0	237				AC004870.3_ENST00000412996.1_RNA																							TTTTTTGCTAATCTATTTTTCAGC	0.417													5	8	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													9	405	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25455113	25455113	+	RNA	DEL	A	A	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:25455113delA	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-22_ENST00000364456.1_RNA	NR_003305.1																						GTGATGACTTAAAAATCATGC	0.493													27	796	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5320213	5320214	+	RNA	INS	-	-	A			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:5320213_5320214insA	ENST00000569895.1	+	0	304																											TGAAAGGTGGCAAAAAGGGAGT	0.366													7	35	---	---	---	---					
PABPN1L	390748	broad.mit.edu	37	16	88932977	88932977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:88932977delG	ENST00000419291.2	-	1	49	c.38delC	c.(37-39)cgfs	p.P13fs	PABPN1L_ENST00000378358.4_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000427766.1_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000411789.2_Frame_Shift_Del_p.P13fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	13						cytoplasm	nucleotide binding|RNA binding			kidney(1)	1						GGCCTGAGTCGGGGGTGGGAA	0.692													2	4	---	---	---	---					
KIAA1328	57536	broad.mit.edu	37	18	34465544	34465545	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:34465544_34465545delAG	ENST00000591619.1	+	5	1131_1132	c.345_346delAG	c.(343-348)acagfs	p.TE115fs	KIAA1328_ENST00000280020.5_Frame_Shift_Del_p.TE119fs|KIAA1328_ENST00000543923.1_Frame_Shift_Del_p.TE11fs|KIAA1328_ENST00000592521.1_Frame_Shift_Del_p.TE119fs|KIAA1328_ENST00000435985.2_5'UTR			Q86T90	K1328_HUMAN	KIAA1328	119										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGGAAGTGACAGAGGAAAGACT	0.347													9	7	---	---	---	---					
MALT1	10892	broad.mit.edu	37	18	56367772	56367772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56367772delT	ENST00000348428.3	+	4	856	c.598delT	c.(598-600)tcfs	p.F200fs	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Del_p.F200fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	200	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CACCTTTGAATTCAGCCAGTG	0.403			T	BIRC3	MALT								23	96	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													4	3	---	---	---	---