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
CROCC	9696	broad.mit.edu	37	1	17256514	17256514	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:17256514G>T	ENST00000375541.5	+	4	594	c.525G>T	c.(523-525)cgG>cgT	p.R175R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	175					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TTGTGCAGCGGCTGCAGGGCA	0.682000													5	13					0.014758	0.0152228	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196874340	196874340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:196874340G>T	ENST00000367416.2	+	3	493	c.356G>T	c.(355-357)gGa>gTa	p.G119V	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGTAAACCAGGATATGCAACA	0.303000													56	56					1.4709e-25	2.38869e-25	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34554600	34554600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:34554600G>A	ENST00000373381.4	-	2	558	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	88	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCTCTGGCTGGGGTGGACCA	0.547000													9	73					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681061	67681061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:67681061G>A	ENST00000334583.6	+	9	982	c.654G>A	c.(652-654)tgG>tgA	p.W218*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.W218*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	218										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACAACCTGTGGTTCCGGTGCC	0.677000													20	45					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190339500	190339500	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:190339500G>T	ENST00000314761.4	+	20	2314	c.2254G>T	c.(2254-2256)Gta>Tta	p.V752L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	752						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CTCCATGTTTGTAAATTCATT	0.428000													29	60					1.30897e-18	1.95599e-18	1	1	0
ACY3	91703	broad.mit.edu	37	11	67412315	67412315	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:67412315C>A	ENST00000255082.3	-	7	830	c.660G>T	c.(658-660)atG>atT	p.M220I	ACY3_ENST00000529256.1_Missense_Mutation_p.M99I	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	220					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TATAGGCTTCCATCTCAAAGG	0.647000													7	11					0.00198382	0.00211859	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418405	105418405	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:105418405C>A	ENST00000333244.5	-	7	3502	c.3383G>T	c.(3382-3384)aGc>aTc	p.S1128I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1128						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTCCACGCTGGGCAGAGA	0.662000													153	137					2.20124e-68	3.96829e-68	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59487661	59487661	+	Splice_Site	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:59487661T>A	ENST00000288235.4	-	17	2203	c.1805_splice	c.e17+1	p.R602_splice		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	602	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCCCGATACCTGCTTTCCTCC	0.562000													40	40					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114356338	114356338	+	RNA	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:114356338C>T	ENST00000538033.2	+	0	2518																											GACACCTTCCCCCCCAGACCC	0.632000													10	20					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059300	248059300	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:248059300C>T	ENST00000537741.1	+	3	669	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	OR2W3_ENST00000360358.3_Missense_Mutation_p.P138S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATCATGAACCCCAGGCTCTG	0.627000													36	73					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805677	54805677	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:54805677C>A	ENST00000306858.7	+	5	2024	c.1908C>A	c.(1906-1908)aaC>aaA	p.N636K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	636										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AATCAAATAACTATATATATA	0.373000													17	63					1.67942e-08	2.05611e-08	1	1	0
PSG9	5678	broad.mit.edu	37	19	43766228	43766228	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:43766228C>A	ENST00000244293.7	-	3	559	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.V165L|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.V165L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	165	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATTAAGCGCACAGCCTCCATG	0.537000													66	265					2.67592e-24	4.2924e-24	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33960313	33960313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:33960313G>T	ENST00000361328.3	+	8	2522	c.2369G>T	c.(2368-2370)gGg>gTg	p.G790V		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	790					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATTCACACGGGGGAAAAGCCC	0.443000													49	116					8.30282e-39	1.4567e-38	1	1	0
CHRNB2	1141	broad.mit.edu	37	1	154542739	154542739	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:154542739G>T	ENST00000368476.3	+	4	525	c.261G>T	c.(259-261)tgG>tgT	p.W87C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	87					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCCAGGAGTGGGAAGATTATC	0.532000													14	14					0.000151284	0.000167478	1	1	0
ADAM15	8751	broad.mit.edu	37	1	155028314	155028314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:155028314G>T	ENST00000356955.2	+	7	762	c.661G>T	c.(661-663)Gct>Tct	p.A221S	ADAM15_ENST00000447332.3_Missense_Mutation_p.A205S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.A221S|ADAM15_ENST00000271836.6_Missense_Mutation_p.A221S|ADAM15_ENST00000360674.4_Missense_Mutation_p.A221S|ADAM15_ENST00000355956.2_Missense_Mutation_p.A221S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.A221S|ADAM15_ENST00000531455.1_Missense_Mutation_p.A231S|ADAM15_ENST00000359280.4_Missense_Mutation_p.A221S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	221	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGTGATTGTGGCTGATCACTC	0.582000													24	164					3.5997e-14	4.9638e-14	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803720	185803720	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:185803720C>A	ENST00000302277.6	+	4	4191	c.3597C>A	c.(3595-3597)caC>caA	p.H1199Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1199						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCCCACACCCTACTGTCA	0.438000													88	223					6.00224e-42	1.06256e-41	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227216501	227216501	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:227216501T>A	ENST00000366769.3	-	29	5475	c.4184A>T	c.(4183-4185)cAa>cTa	p.Q1395L	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.Q1430L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.Q1375L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.Q1408L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.Q1314L|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.Q1395L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.Q1367L	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1408	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATCCATTGGTTGATGTGCAAT	0.418000													19	97					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976099	107976099	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:107976099G>T	ENST00000372129.2	-	1	3552	c.3476C>A	c.(3475-3477)tCt>tAt	p.S1159Y		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1159	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCAGCGGGCAGAGGCGGAGTC	0.647000													85	108					1.72036e-36	2.99161e-36	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11696953	11696953	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:11696953A>T	ENST00000262442.3	+	42	8263	c.8195A>T	c.(8194-8196)cAg>cTg	p.Q2732L	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2732L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2732					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATAAAATCCAGACAGAAGTG	0.333000													38	34					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531445	140531445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:140531445C>A	ENST00000231136.1	+	1	1607	c.1607C>A	c.(1606-1608)tCc>tAc	p.S536Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S400Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGCGGCTCCCCGGCGTTG	0.672000													49	67					1.80625e-27	2.9826e-27	1	1	0
TTN	7273	broad.mit.edu	37	2	179639128	179639128	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:179639128C>A	ENST00000589042.1	-	30	7087	c.6863G>T	c.(6862-6864)tGc>tTc	p.C2288F	TTN_ENST00000359218.5_Missense_Mutation_p.C2242F|TTN_ENST00000591111.1_Missense_Mutation_p.C2288F|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C2242F|TTN_ENST00000342992.6_Missense_Mutation_p.C2288F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.C2288F|TTN_ENST00000460472.2_Missense_Mutation_p.C2242F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2012	Ig-like 12.						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)			GGATACAATGCACTCTAATTC	0.363000													9	57					5.68852e-11	7.42721e-11	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3076777	3076777	+	Splice_Site	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:3076777C>A	ENST00000520002.1	-	30	5230	c.4675_splice	c.e30+1	p.E1559_splice	CSMD1_ENST00000542608.1_Splice_Site_p.E1558_splice|CSMD1_ENST00000539096.1_Splice_Site_p.E1558_splice|CSMD1_ENST00000537824.1_Splice_Site_p.E1558_splice|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Splice_Site_p.E1559_splice|CSMD1_ENST00000602557.1_Splice_Site_p.E1559_splice|CSMD1_ENST00000400186.3_Splice_Site_p.E1559_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1559	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCGCAATACCTTTAAATTCA	0.423000													3	7					1	1	1	1	0
CENPI	2491	broad.mit.edu	37	X	100357331	100357331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:100357331G>T	ENST00000372927.1	+	3	572	c.295G>T	c.(295-297)Gct>Tct	p.A99S	CENPI_ENST00000372926.1_Missense_Mutation_p.A99S|CENPI_ENST00000218507.5_Missense_Mutation_p.A99S|CENPI_ENST00000423383.1_Missense_Mutation_p.A99S	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	99					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GGAAAATGTGGCTTGGAAGAA	0.313000													84	104					2.93434e-44	5.21807e-44	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618870	77618870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:77618870C>A	ENST00000521891.2	+	2	2995	c.2547C>A	c.(2545-2547)ttC>ttA	p.F849L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.F849L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F849L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F849L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	849						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCAATCCATTCCAGCTGGATC	0.498000										HNSCC(33;0.089)			8	8					0.000442599	0.000483171	1	1	0
CTSS	1520	broad.mit.edu	37	1	150724300	150724300	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:150724300T>A	ENST00000368985.3	-	5	844	c.584A>T	c.(583-585)aAc>aTc	p.N195I	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.N145I	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	195					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GATGCCCTTGTTATCAATGAT	0.468000													56	144					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48506022	48506022	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:48506022G>T	ENST00000412052.1	+	11	2199	c.1737G>T	c.(1735-1737)ttG>ttT	p.L579F	ATRIP_ENST00000357105.6_Missense_Mutation_p.L545F|ATRIP_ENST00000346691.4_Intron|ATRIP_ENST00000320211.3_Missense_Mutation_p.L672F	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	672					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAGCCCCTTGCCCCCAGTCA	0.607000								Other conserved DNA damage response genes					28	93					1.16021e-09	1.46612e-09	1	1	0
HSD17B11	51170	broad.mit.edu	37	4	88261736	88261736	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:88261736C>T	ENST00000358290.4	-	6	1033	c.718G>A	c.(718-720)Gag>Aag	p.E240K	HSD17B11_ENST00000507518.1_5'UTR|RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507286.1_Missense_Mutation_p.E196K	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	240					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACCACTTCCTCAGGTTCCAGA	0.408000													24	41					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70812065	70812065	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:70812065G>A	ENST00000322773.4	+	16	1331	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	COL19A1_ENST00000393344.1_Missense_Mutation_p.R32K	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	410	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTCAAGGGAAGACGAGGGAAA	0.373000													26	82					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525662	176525662	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:176525662T>A	ENST00000367662.3	+	2	1368	c.204T>A	c.(202-204)ttT>ttA	p.F68L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.F68L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	68					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCACCTCTTTGGAGTCTACC	0.552000													91	186					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140995744	140995744	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:140995744C>A	ENST00000389484.3	-	89	14508	c.13537G>T	c.(13537-13539)Ggc>Tgc	p.G4513C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4513					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCATAAAGCCAGGATCTAAA	0.368000										TSP Lung(27;0.18)			29	88					5.60225e-13	7.51428e-13	1	1	0
SRC	6714	broad.mit.edu	37	20	36031656	36031656	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr20:36031656C>T	ENST00000373578.2	+	14	1834	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	SRC_ENST00000445403.1_Silent_p.H495H|SRC_ENST00000373567.2_Silent_p.H495H|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Silent_p.H501H|SRC_ENST00000373558.2_Silent_p.H501H|SRC_ENST00000358208.4_Silent_p.H495H	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	495	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	AGTCCCTGCACGACCTCATGT	0.682000													4	16					0	0	1	0	0
SDHD	6392	broad.mit.edu	37	11	111958606	111958606	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:111958606C>T	ENST00000375549.3	+	2	213	c.78C>T	c.(76-78)gtC>gtT	p.V26V	SDHD_ENST00000532699.1_Silent_p.V26V|SDHD_ENST00000525291.1_Intron|SDHD_ENST00000528182.1_Silent_p.V26V|SDHD_ENST00000526592.1_Silent_p.V26V|SDHD_ENST00000528021.1_Silent_p.V26V|SDHD_ENST00000528048.1_Silent_p.V26V	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	26					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	CTCCAGTGGTCAGACCTGCTC	0.453000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				24	158					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081034	152081034	+	Silent	SNP	A	A	T	rs71585886		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:152081034A>T	ENST00000368804.1	-	2	4658	c.4659T>A	c.(4657-4659)cgT>cgA	p.R1553R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1553	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTCTGTCACGGTCCTGAC	0.602000													24	188					0	0	1	0	0
URAD	646625	broad.mit.edu	37	13	28562684	28562684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr13:28562684C>A	ENST00000332715.4	-	1	90	c.91G>T	c.(91-93)Gct>Tct	p.A31S		NM_001105577.1	NP_001099047.1			ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase																		GACCAAACAGCAGCTGCAATC	0.463000													29	62					7.01153e-11	9.06425e-11	1	1	0
SOCS4	122809	broad.mit.edu	37	14	55510836	55510836	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:55510836G>T	ENST00000395472.2	+	2	1409	c.1077G>T	c.(1075-1077)ggG>ggT	p.G359G	SOCS4_ENST00000555846.1_Silent_p.G359G|SOCS4_ENST00000339298.2_Silent_p.G359G	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	359	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ACATTACTGGGCTCCTAGAAC	0.433000													32	73					5.60225e-13	7.51428e-13	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10960101	10960101	+	Nonsense_Mutation	SNP	C	C	G	rs144421280	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:10960101C>G	ENST00000254488.2	+	8	1149	c.1083C>G	c.(1081-1083)taC>taG	p.Y361*		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	361					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TTATGGCGTACGAGCAGGGGG	0.572000													18	21					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156390188	156390188	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:156390188G>T	ENST00000274532.2	-	1	78	c.22C>A	c.(22-24)Ctc>Atc	p.L8I	TIMD4_ENST00000407087.3_Missense_Mutation_p.L8I	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	8						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCAGCCAGAGAATGAGAGGT	0.443000													54	33					3.84483e-29	6.51302e-29	1	1	0
CHMP4C	92421	broad.mit.edu	37	8	82665453	82665453	+	Silent	SNP	G	G	A	rs140893589		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:82665453G>A	ENST00000297265.4	+	2	538	c.345G>A	c.(343-345)gcG>gcA	p.A115A		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	115	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CAGCAAAAGCGATGAAATCTG	0.448000													10	55					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31008058	31008058	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:31008058G>A	ENST00000215095.5	-	7	714	c.483C>T	c.(481-483)aaC>aaT	p.N161N	STX1B_ENST00000565419.1_Silent_p.N161N	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	161					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	p.N161K(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CCAGTTCTTCGTTGGTGGTGG	0.632000													22	91					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608123	4608123	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:4608123G>T	ENST00000312614.4	+	1	103	c.81G>T	c.(79-81)atG>atT	p.M27I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTTGTGATGCTGGGTCCAG	0.453000													50	101					7.05377e-20	1.07865e-19	1	1	0
ACSL4	2182	broad.mit.edu	37	X	108902739	108902739	+	Splice_Site	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:108902739C>A	ENST00000340800.2	-	16	2326	c.1820_splice	c.e16-1	p.D608_splice	ACSL4_ENST00000469796.2_Splice_Site_p.D608_splice|ACSL4_ENST00000348502.6_Splice_Site_p.D567_splice	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	608					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TAGGACTGATCACTAAAAAAA	0.323000													11	68					3.86212e-05	4.31197e-05	1	1	0
ZP4	57829	broad.mit.edu	37	1	238048857	238048857	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:238048857C>A	ENST00000366570.4	-	8	1152	c.994G>T	c.(994-996)Ggt>Tgt	p.G332C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	332	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACCAACACCGTAGTAAGAG	0.483000													32	47					1.06801e-11	1.3991e-11	1	1	0
GNAS	2778	broad.mit.edu	37	20	57428898	57428898	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr20:57428898G>A	ENST00000371100.4	+	1	1130	c.578G>A	c.(577-579)gGg>gAg	p.G193E	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.G130R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G193E|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G193E|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGTGCTGCAGGGGTCCCCGGA	0.622000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	22					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38620936	38620936	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:38620936C>A	ENST00000413689.1	-	18	3472	c.3279G>T	c.(3277-3279)agG>agT	p.R1093S	SCN5A_ENST00000455624.2_Missense_Mutation_p.R1092S|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1093S|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1092S|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1093S|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1092S|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1093S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1093					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCTCCAGGTCCTGGAATCCG	0.657000													12	15					1.05317e-09	1.33947e-09	1	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	54					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96858534	96858534	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:96858534A>T	ENST00000267584.4	+	1	87	c.43A>T	c.(43-45)Atc>Ttc	p.I15F	AK7_ENST00000555570.1_Missense_Mutation_p.I15F	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	15					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGAGAAGGTTATCCGGACCCA	0.607000													23	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419327	179419327	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:179419327T>C	ENST00000589042.1	-	332	88971	c.88747A>G	c.(88747-88749)Atg>Gtg	p.M29583V	TTN_ENST00000359218.5_Missense_Mutation_p.M20643V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M27942V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M20710V|TTN_ENST00000342992.6_Missense_Mutation_p.M27015V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M20518V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27942	Ig-like 135.						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)			TCAGACACCATAGACCACACA	0.458000													29	111					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594504	123594504	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:123594504G>T	ENST00000340011.5	+	3	1237	c.880G>T	c.(880-882)Gca>Tca	p.A294S	SPAM1_ENST00000223028.7_Missense_Mutation_p.A294S|SPAM1_ENST00000460182.1_Missense_Mutation_p.A294S|SPAM1_ENST00000402183.2_Missense_Mutation_p.A294S|SPAM1_ENST00000439500.1_Missense_Mutation_p.A294S	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	294					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATACCTGATGCAAAAAGTCC	0.418000													29	46					5.60225e-13	7.51428e-13	1	1	0
SPCS3	60559	broad.mit.edu	37	4	177241360	177241360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:177241360C>T	ENST00000503362.1	+	1	246	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	45					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		GCACGTCTCGCGGATCATGCT	0.726000													18	25					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160998198	160998198	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:160998198T>C	ENST00000447678.1	-	29	4721	c.4601A>G	c.(4600-4602)cAt>cGt	p.H1534R	LPA_ENST00000316300.5_Missense_Mutation_p.H1534R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4042	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTCCTCTGATGCCAGTGTGG	0.448000													37	174					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126716014	126716014	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:126716014C>A	ENST00000309035.6	-	1	445	c.315G>T	c.(313-315)ctG>ctT	p.L105L	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCCGTGGCAGCAGGGGGCTGC	0.602000													27	39					1.75199e-13	2.39073e-13	1	1	0
NFXL1	152518	broad.mit.edu	37	4	47880617	47880617	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:47880617C>A	ENST00000507489.1	-	17	2180	c.2004G>T	c.(2002-2004)ttG>ttT	p.L668F	NFXL1_ENST00000329043.3_Missense_Mutation_p.L668F|NFXL1_ENST00000381538.3_Missense_Mutation_p.L668F	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	668						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCTGACAATCCAAGATTCTTC	0.378000													63	51					7.50695e-29	1.26619e-28	1	1	0
H2BFWT	158983	broad.mit.edu	37	X	103268203	103268203	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:103268203G>T	ENST00000217926.5	-	1	56	c.30C>A	c.(28-30)ccC>ccA	p.P10P		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	10					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TTGTGGACCGGGGAAGCCGGG	0.602000													3	25					0.004672	0.00489626	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400848	195400848	+	RNA	SNP	G	G	A	rs7635190	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:195400848G>A	ENST00000445430.1	+	0	1444																											TCGCAGAGTCGTGCAGGCCTG	0.552000													4	13					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128228	56128228	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:56128228G>A	ENST00000303039.3	+	1	538	c.506G>A	c.(505-507)tGc>tAc	p.C169Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTGTCTTATTGCTCTTCTAAT	0.388000													25	59					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43294159	43294159	+	Splice_Site	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:43294159C>T	ENST00000325110.6	-	8	1388	c.1183_splice	c.e8+1	p.P394_splice	HMGCS1_ENST00000433297.2_Splice_Site_p.P394_splice	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	394					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AGCACTTACCCGGTGTAGCAT	0.493000													42	52					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126777716	126777716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:126777716C>A	ENST00000373615.4	+	3	1378	c.639C>A	c.(637-639)taC>taA	p.Y213*		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	213						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GTCTTCCCTACTACAATGGCG	0.706000													5	18					0.0215528	0.0221734	1	1	0
CDH8	1006	broad.mit.edu	37	16	62055275	62055275	+	Silent	SNP	A	A	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:62055275A>G	ENST00000577390.1	-	2	987	c.33T>C	c.(31-33)gaT>gaC	p.D11D	CDH8_ENST00000577730.1_Silent_p.D11D|CDH8_ENST00000299345.6_Silent_p.D11D|CDH8_ENST00000584337.1_Silent_p.D11D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	11					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGTCCAGAGATCCAAGAGCA	0.438000													37	63					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810297	167810297	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:167810297G>C	ENST00000357154.3	-	7	719	c.582C>G	c.(580-582)agC>agG	p.S194R	SPOCK3_ENST00000357545.4_Missense_Mutation_p.S191R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.S96R|SPOCK3_ENST00000506886.1_Missense_Mutation_p.S194R|SPOCK3_ENST00000512648.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000511531.1_Missense_Mutation_p.S194R|SPOCK3_ENST00000504953.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000541637.1_Missense_Mutation_p.S96R|SPOCK3_ENST00000541354.1_Missense_Mutation_p.S74R|SPOCK3_ENST00000535728.1_Missense_Mutation_p.S102R|SPOCK3_ENST00000502330.1_Missense_Mutation_p.S194R|SPOCK3_ENST00000511269.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000534949.1_Missense_Mutation_p.S98R|SPOCK3_ENST00000510741.1_Missense_Mutation_p.S191R|SPOCK3_ENST00000421836.2_Missense_Mutation_p.S143R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	194					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TAACATTTCTGCTTGTACTGG	0.343000													16	31					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151093080	151093080	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:151093080A>T	ENST00000370335.1	+	3	1211	c.944A>T	c.(943-945)gAg>gTg	p.E315V	MAGEA4_ENST00000370337.4_Missense_Mutation_p.E315V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E315V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.E315V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E315V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E315V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E315V			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	315							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGAGGAAGAGGGAGTCTGA	0.572000													24	102					0	0	1	0	0
IFNA2	3440	broad.mit.edu	37	9	21384861	21384861	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:21384861C>G	ENST00000380206.2	-	1	535	c.468G>C	c.(466-468)aaG>aaC	p.K156N		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	156					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGCTGTATTTCTTCTCTTTCA	0.438000													74	315					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149573	34149573	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:34149573C>A	ENST00000346193.3	-	1	874	c.823G>T	c.(823-825)Gac>Tac	p.D275Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	275										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCCCGTGCGTCTTCCAGCTTC	0.577000													32	33					3.67414e-24	5.86966e-24	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	103					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	G	rs121912664		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:7574017C>G	ENST00000269305.4	-	10	1199	c.1010G>C	c.(1009-1011)cGc>cCc	p.R337P	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337P|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(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)		CATCTCGAAGCGCTCACGCCC	0.527000		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)			10	13					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67965049	67965049	+	Silent	SNP	G	G	A	rs146079104	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:67965049G>A	ENST00000574481.1	-	2	669	c.108C>T	c.(106-108)aaC>aaT	p.N36N	CTC-479C5.12_ENST00000573493.1_Intron|CTRL_ENST00000576408.1_Intron	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	36	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CATTCTCCCCGTTGACAATCC	0.622000													18	53					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	RNA	SNP	C	C	A	rs7615369	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437																											CTGAGCATCGCAGAGTCGTGC	0.552000													4	13					0.248553	0.250464	1	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50657617	50657617	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:50657617G>A	ENST00000248846.5	-	20	4610	c.4506C>T	c.(4504-4506)gcC>gcT	p.A1502A	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1502					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTCGACAGCGGCCTTGTTCA	0.657000													6	44					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536868	146536868	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:146536868C>A	ENST00000361727.3	+	3	790	c.274C>A	c.(274-276)Cgg>Agg	p.R92R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	92	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTTGGCAATCGGAAGCAGAT	0.502000										HNSCC(39;0.1)			27	57					2.44723e-14	3.4105e-14	1	1	0
TTN	7273	broad.mit.edu	37	2	179664563	179664563	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:179664563G>T	ENST00000589042.1	-	5	882	c.658C>A	c.(658-660)Cga>Aga	p.R220R	TTN_ENST00000359218.5_Silent_p.R220R|TTN_ENST00000591111.1_Silent_p.R220R|TTN_ENST00000342175.6_Silent_p.R220R|TTN_ENST00000342992.6_Silent_p.R220R|TTN_ENST00000360870.5_Silent_p.R220R|TTN_ENST00000460472.2_Silent_p.R220R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	220							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R220R(6)		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)			TTTTCAATTCGGGTTTGTCTT	0.403000													11	70					5.50884e-06	6.38635e-06	1	1	0
ACTN4	81	broad.mit.edu	37	19	39200910	39200910	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:39200910G>T	ENST00000252699.2	+	8	823	c.747G>T	c.(745-747)acG>acT	p.T249T	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	249	Actin-binding.|CH 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCGTGAACACGGCCCGGCCCG	0.612000													51	215					4.25531e-23	6.7433e-23	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50712950	50712950	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:50712950C>A	ENST00000008391.3	+	6	1242	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	338	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAAGATGATCCTGGCGACCA	0.403000													28	66					1.62565e-12	2.15838e-12	1	1	0
RYR2	6262	broad.mit.edu	37	1	237993923	237993923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:237993923A>T	ENST00000366574.2	+	103	15066	c.14749A>T	c.(14749-14751)Aat>Tat	p.N4917Y	RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.N4923Y|RYR2_ENST00000542537.1_Missense_Mutation_p.N4901Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4917					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACTTGGCTAATTACTTGTG	0.453000													20	158					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30807526	30807526	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:30807526G>T	ENST00000261712.3	+	13	1409	c.1146G>T	c.(1144-1146)gaG>gaT	p.E382D	PSMD11_ENST00000457654.2_Missense_Mutation_p.E382D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	382	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACCAGGGGGAGGGTGTCCTGA	0.458000													35	77					1.04352e-10	1.3446e-10	1	1	0
FAIM3	9214	broad.mit.edu	37	1	207095190	207095190	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:207095190A>T	ENST00000367091.3	-	1	153	c.10T>A	c.(10-12)Tgg>Agg	p.W4R	FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Missense_Mutation_p.W4R|FAIM3_ENST00000420007.2_Missense_Mutation_p.W4R	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	4					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GGCCAAAGCCAGAAGTCCATT	0.507000													12	93					0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27234351	27234351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:27234351G>A	ENST00000429849.2	-	2	596	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	189										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CAGGATTGAGGAGATCTCTGG	0.537000													46	46					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150155703	150155703	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:150155703G>T	ENST00000325307.7	+	4	489	c.393G>T	c.(391-393)tgG>tgT	p.W131C	HMGB3_ENST00000448905.2_Missense_Mutation_p.W131C	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	131					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGATGTGGAATAATTTAA	0.478000													7	35					0.0381472	0.0390413	1	1	0
SERPINF1	5176	broad.mit.edu	37	17	1680502	1680502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:1680502C>A	ENST00000254722.4	+	8	1182	c.1019C>A	c.(1018-1020)tCa>tAa	p.S340*		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	340					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TTGTTTGATTCACCAGACTTT	0.537000													64	110					7.41606e-26	1.20934e-25	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113140978	113140978	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:113140978C>G	ENST00000316851.7	+	16	2170	c.2170C>G	c.(2170-2172)Ctg>Gtg	p.L724V	NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	734					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CATCTTCGTCCTGCTCCTGGT	0.602000													5	261					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71887315	71887315	+	Silent	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:71887315C>G	ENST00000373545.3	-	7	1065	c.627G>C	c.(625-627)ctG>ctC	p.L209L	PHKA1_ENST00000541944.1_Silent_p.L209L|PHKA1_ENST00000373539.3_Silent_p.L209L|PHKA1_ENST00000339490.3_Silent_p.L209L|PHKA1_ENST00000373542.4_Silent_p.L209L			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	209					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CTAATGCTTCCAGGGCTGCCT	0.408000													22	21					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142499774	142499774	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:142499774A>G	ENST00000273482.6	+	5	1152	c.761A>G	c.(760-762)cAt>cGt	p.H254R	TRPC1_ENST00000476941.1_Missense_Mutation_p.H288R	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	288					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATTCTAAACCATACGTCTAGT	0.378000													31	34					0	0	1	0	0
MIR513A2	574510	broad.mit.edu	37	X	146307425	146307425	+	RNA	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:146307425C>A	ENST00000385249.1	-	0	45					NR_030232.1																						taaatgacacctccctgtgaa	0.438000													7	25					2.0095e-06	2.35741e-06	1	1	0
MMP16	4325	broad.mit.edu	37	8	89179958	89179958	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:89179958C>T	ENST00000286614.6	-	4	930	c.649G>A	c.(649-651)Gga>Aga	p.G217R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	217					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTATCTCCTCCAATTCCTGGT	0.408000													28	65					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49447387	49447387	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:49447387C>T	ENST00000301067.7	-	6	710	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTCACACAACTCCCCTGGCC	0.597000													4	4					0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12664768	12664768	+	Splice_Site	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:12664768G>T	ENST00000297029.5	+	6	993		c.e6+1		SCIN_ENST00000445618.2_Splice_Site|SCIN_ENST00000473722.1_Splice_Site|SCIN_ENST00000519209.1_Splice_Site	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin						actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTATGGAAAGGTAAAAAATTC	0.353000													9	9					2.80697e-09	3.53571e-09	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67092780	67092780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:67092780C>A	ENST00000284425.2	-	24	3457	c.3283G>T	c.(3283-3285)Gtg>Ttg	p.V1095L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1095					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAAGCAAACACAATTTGGCTT	0.264000													8	27					5.18039e-06	6.04123e-06	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77690596	77690596	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:77690596C>A	ENST00000521891.2	+	4	3694	c.3246C>A	c.(3244-3246)ctC>ctA	p.L1082L	ZFHX4_ENST00000455469.2_Silent_p.L1056L|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Silent_p.L1056L|ZFHX4_ENST00000518282.1_Silent_p.L1056L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1056						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTCCAGCTCCACCAGCAAG	0.522000										HNSCC(33;0.089)			83	161					1.84514e-49	3.31114e-49	1	1	0
OR5P3	120066	broad.mit.edu	37	11	7847399	7847399	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:7847399C>A	ENST00000328375.1	-	1	120	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41C(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGATATTACCCATTAAGGTG	0.368000													31	80					3.73148e-12	4.92104e-12	1	1	0
METTL3	56339	broad.mit.edu	37	14	21967720	21967720	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:21967720A>C	ENST00000298717.4	-	8	1519	c.1368T>G	c.(1366-1368)atT>atG	p.I456M		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	456					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCTTCACCCAAATAATTTCAT	0.443000													98	127					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21931325	21931325	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:21931325G>A	ENST00000358242.3	+	10	1307	c.814G>A	c.(814-816)Gac>Aac	p.D272N	DMTN_ENST00000523782.2_Missense_Mutation_p.D247N|DMTN_ENST00000519907.1_Missense_Mutation_p.D272N|DMTN_ENST00000517600.1_Missense_Mutation_p.D232N|DMTN_ENST00000443491.2_Missense_Mutation_p.D247N|DMTN_ENST00000432128.1_Missense_Mutation_p.D272N|DMTN_ENST00000381470.3_Missense_Mutation_p.D272N|DMTN_ENST00000415253.1_Missense_Mutation_p.D272N|DMTN_ENST00000523266.1_Missense_Mutation_p.D272N|DMTN_ENST00000265800.5_Missense_Mutation_p.D272N					dematin actin binding protein																		CTCTCTGCCTGACCGGACACC	0.527000													4	55					0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1449456	1449456	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:1449456C>A	ENST00000389221.4	-	5	652	c.653G>T	c.(652-654)cGc>cTc	p.R218L	UNKL_ENST00000508903.2_Missense_Mutation_p.R218L|UNKL_ENST00000397462.1_Missense_Mutation_p.R321L|UNKL_ENST00000301712.5_Missense_Mutation_p.R218L	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	218						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCGGCACAGGCGTGGCGGCTT	0.652000													3	7					0.004672	0.00489626	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2408085	2408085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:2408085G>T	ENST00000419816.2	+	1	332	c.58G>T	c.(58-60)Gcg>Tcg	p.A20S	PLCH2_ENST00000449969.1_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A20S|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_5'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.A20S			O75038	PLCH2_HUMAN	phospholipase C, eta 2	20	Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGCCTGGCTGGCGGAGGTACT	0.677000													8	21					0.307466	0.309039	1	1	0
ID2	3398	broad.mit.edu	37	2	8822431	8822431	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:8822431C>A	ENST00000234091.4	+	3	996	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	ID2_ENST00000396290.1_Missense_Mutation_p.L46I|ID2_ENST00000331129.3_Missense_Mutation_p.L46I			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	46	Helix-loop-helix motif.				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACTCCAAGCTCAAGGAGCT	0.562000													4	77					1	1	1	1	0
MAPK10	5602	broad.mit.edu	37	4	87028499	87028499	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:87028499C>A	ENST00000395169.3	-	5	849	c.129G>T	c.(127-129)gcG>gcT	p.A43A	MAPK10_ENST00000395166.1_Silent_p.A43A|MAPK10_ENST00000359221.3_Silent_p.A81A|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395161.2_Silent_p.A81A|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000361569.2_Silent_p.A81A|MAPK10_ENST00000513839.1_5'UTR	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	81					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAGCATCATACGCGGCACTGT	0.443000													22	18					4.35082e-09	5.44545e-09	1	1	0
CUBN	8029	broad.mit.edu	37	10	17157487	17157487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:17157487G>A	ENST00000377833.4	-	7	768	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	235					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGCTCTCGCATTAAATCC	0.557000													21	22					0	0	1	0	0
MOSPD2	158747	broad.mit.edu	37	X	14933885	14933885	+	Splice_Site	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:14933885G>A	ENST00000380492.3	+	12	1273	c.1186_splice	c.e12+1	p.G395_splice	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Splice_Site_p.G395_splice	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	395	MSP.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					CTCCCCATGGGGGTGAGTTGT	0.522000													9	119					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059108	152059108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:152059108C>A	ENST00000368806.1	-	3	1114	c.1050G>T	c.(1048-1050)ttG>ttT	p.L350F		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	350							calcium ion binding	p.L350F(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CAGGTTCACCCAAATTCTTTG	0.418000													46	284					2.215e-12	2.93096e-12	1	1	0
STAB2	55576	broad.mit.edu	37	12	104089338	104089338	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:104089338C>T	ENST00000388887.2	+	32	3590	c.3386C>T	c.(3385-3387)cCa>cTa	p.P1129L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1129					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCTGGTCCCACAAAGACGT	0.473000													40	34					0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13546029	13546029	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:13546029G>C	ENST00000382438.5	-	1	645	c.10C>G	c.(10-12)Cgc>Ggc	p.R4G		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	4					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTGGCGCCGCGCACAGCCATC	0.771000													6	4					0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201435	24201435	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:24201435C>T	ENST00000536471.1	-	3	931	c.673G>A	c.(673-675)Ggc>Agc	p.G225S	CNR2_ENST00000374472.4_Missense_Mutation_p.G225S			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	225					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TCCTGGTGGCCAGACAAGCTG	0.572000													21	38					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46804900	46804900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:46804900C>A	ENST00000262738.3	-	9	5218	c.5219G>T	c.(5218-5220)cGc>cTc	p.R1740L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1740	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACCTGGAGGCGAAAGCTGGT	0.667000													12	47					2.27111e-07	2.71291e-07	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45799050	45799050	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr21:45799050G>A	ENST00000397928.1	+	8	1630	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	TRPM2_ENST00000300481.9_Silent_p.T395T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.T395T|TRPM2_ENST00000397932.2_Silent_p.T395T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	395						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGACCTTCACGGAAAGCAGGA	0.557000													20	90					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630767	187630767	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:187630767T>C	ENST00000441802.2	-	2	424	c.215A>G	c.(214-216)tAc>tGc	p.Y72C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	72	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACAATTTTGTACCTTACTTC	0.438000										HNSCC(5;0.00058)			13	14					0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51518152	51518152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:51518152C>A	ENST00000309958.3	-	6	953	c.735G>T	c.(733-735)tgG>tgT	p.W245C	KLK10_ENST00000358789.3_Missense_Mutation_p.W245C|KLK10_ENST00000391805.1_Missense_Mutation_p.W245C	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	245	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GGTAAACACCCCACGAGAGGA	0.542000													33	25					1.836e-18	2.71259e-18	1	1	0
TPR	7175	broad.mit.edu	37	1	186296651	186296651	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:186296651T>C	ENST00000367478.3	-	40	6126	c.5830A>G	c.(5830-5832)Att>Gtt	p.I1944V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1944					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		tcaATTACAATGACATCATCT	0.383000			T	NTRK1	papillary thyroid								19	21					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:222717002C>T	ENST00000343410.6	-	2	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	284					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R284H(1)		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)		GCGATTGTGGCGGAATTTGGG	0.483000													57	282					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850552	216850552	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:216850552T>A	ENST00000391890.3	-	4	786	c.269A>T	c.(268-270)cAg>cTg	p.Q90L	ESRRG_ENST00000361395.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000360012.3_Missense_Mutation_p.Q90L|ESRRG_ENST00000487276.1_Missense_Mutation_p.Q90L|ESRRG_ENST00000366937.1_Missense_Mutation_p.Q118L|ESRRG_ENST00000366938.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000493748.1_Missense_Mutation_p.Q90L|ESRRG_ENST00000408911.3_Missense_Mutation_p.Q113L|ESRRG_ENST00000493603.1_Missense_Mutation_p.Q90L|ESRRG_ENST00000359162.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000361525.3_Missense_Mutation_p.Q90L|ESRRG_ENST00000366940.2_Missense_Mutation_p.Q90L|ESRRG_ENST00000463665.1_Missense_Mutation_p.Q90L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	113					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACACTTGGTCTGGGGATCTTC	0.512000													62	173					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026076	57026076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:57026076C>A	ENST00000311923.1	-	1	465	c.466G>T	c.(466-468)Ggc>Tgc	p.G156C		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	156	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TCAGGGTGGCCGGCGGCGCCA	0.587000													50	101					2.81731e-22	4.41116e-22	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137630337	137630337	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:137630337C>T	ENST00000371817.3	+	10	1821	c.1407C>T	c.(1405-1407)ggC>ggT	p.G469G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	469	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCATCGAGGGCCCGCCTGGCC	0.642000													11	45					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45221600	45221600	+	Splice_Site	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:45221600G>T	ENST00000372217.1	+	8	948		c.e8-1		KIF2C_ENST00000372218.4_Splice_Site|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372222.3_Splice_Site|KIF2C_ENST00000372224.4_Splice_Site			Q99661	KIF2C_HUMAN	kinesin family member 2C						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)					TCCGCTTGCAGATCGAAGAGC	0.502000													10	52					1.58986e-06	1.87633e-06	1	1	0
IQUB	154865	broad.mit.edu	37	7	123150032	123150032	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:123150032G>A	ENST00000466202.1	-	3	1031	c.455C>T	c.(454-456)aCc>aTc	p.T152I	IQUB_ENST00000324698.6_Missense_Mutation_p.T152I|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.T152I			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	152	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTTAAGAATGGTATCAACCTT	0.313000													7	210					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850551	216850551	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:216850551C>T	ENST00000391890.3	-	4	787	c.270G>A	c.(268-270)caG>caA	p.Q90Q	ESRRG_ENST00000361395.2_Silent_p.Q90Q|ESRRG_ENST00000360012.3_Silent_p.Q90Q|ESRRG_ENST00000487276.1_Silent_p.Q90Q|ESRRG_ENST00000366937.1_Silent_p.Q118Q|ESRRG_ENST00000366938.2_Silent_p.Q90Q|ESRRG_ENST00000493748.1_Silent_p.Q90Q|ESRRG_ENST00000408911.3_Silent_p.Q113Q|ESRRG_ENST00000493603.1_Silent_p.Q90Q|ESRRG_ENST00000359162.2_Silent_p.Q90Q|ESRRG_ENST00000361525.3_Silent_p.Q90Q|ESRRG_ENST00000366940.2_Silent_p.Q90Q|ESRRG_ENST00000463665.1_Silent_p.Q90Q	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	113					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CACACTTGGTCTGGGGATCTT	0.512000													62	174					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	111					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1102165	1102165	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:1102165G>T	ENST00000441003.2	+	44	7828	c.7801G>T	c.(7801-7803)Gcc>Tcc	p.A2601S		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4963						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACGTCATCGCCTGCACCCA	0.627000													36	83					7.04047e-22	1.09798e-21	1	1	0
SP7	121340	broad.mit.edu	37	12	53723141	53723141	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:53723141C>T	ENST00000536324.2	-	3	368	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	SP7_ENST00000303846.3_Missense_Mutation_p.G29S|SP7_ENST00000537210.2_Missense_Mutation_p.G11S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGCTAGAGCCACCAAATTTG	0.577000													45	39					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376511	78376511	+	Splice_Site	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:78376511G>A	ENST00000255192.3	+	4	326	c.258_splice	c.e4-1	p.W87_splice	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	87	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TAACCTCAGTGGGAAGATGTA	0.433000													69	58					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71398132	71398132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:71398132C>T	ENST00000392650.3	-	19	2633	c.2633G>A	c.(2632-2634)gGg>gAg	p.G878E	SDK2_ENST00000388726.3_Missense_Mutation_p.G878E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	878	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCCCGTCCCCGGGGGTGGT	0.652000													17	25					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58291139	58291139	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:58291139A>T	ENST00000391702.3	+	4	1422	c.1055A>T	c.(1054-1056)cAt>cTt	p.H352L	ZNF586_ENST00000396154.2_Missense_Mutation_p.H395L|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAGAGTTCATACTGGAATG	0.438000													27	34					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195611830	195611830	+	Silent	SNP	G	G	A	rs56054753		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:195611830G>A	ENST00000333602.6	-	4	926	c.309C>T	c.(307-309)ccC>ccT	p.P103P	TNK2_ENST00000316664.3_Silent_p.P103P|TNK2_ENST00000392400.1_Silent_p.P103P|TNK2_ENST00000428187.1_Silent_p.P135P|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Silent_p.P166P	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	103	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCCCAGGGGCGGGCGAGGTCT	0.647000													31	27					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43898596	43898596	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:43898596G>A	ENST00000417669.1	+	6	1265	c.821G>A	c.(820-822)cGc>cAc	p.R274H	MPPED1_ENST00000542779.1_Missense_Mutation_p.R274H|MPPED1_ENST00000439548.1_Missense_Mutation_p.R116H|MPPED1_ENST00000414469.2_Missense_Mutation_p.R168H|MPPED1_ENST00000443721.1_Missense_Mutation_p.R274H|MPPED1_ENST00000538182.1_Missense_Mutation_p.R307H			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	274							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTGCAGAGGCGCGTCCAGCCG	0.622000													45	115					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14406721	14406721	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:14406721C>T	ENST00000344204.4	+	33	4923	c.4899C>T	c.(4897-4899)agC>agT	p.S1633S	TRIO_ENST00000537187.1_Silent_p.S1633S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1633					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACGGCAGCAGCCAGCCTGATA	0.567000													69	259					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	484705	484705	+	Missense_Mutation	SNP	C	C	A	rs139989045		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:484705C>A	ENST00000264938.3	-	5	871	c.862G>T	c.(862-864)Ggc>Tgc	p.G288C	SLC9A3_ENST00000514375.1_Missense_Mutation_p.G288C	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	288						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AACACGAAGCCGGGCTCGATG	0.627000													31	87					1.16021e-09	1.46612e-09	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45393006	45393006	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:45393006G>A	ENST00000389039.6	-	23	3337	c.2952C>T	c.(2950-2952)gcC>gcT	p.A984A	DUOX2_ENST00000603300.1_Silent_p.A984A			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	984	Interaction with TXNDC11 (By similarity).			A -> V (in Ref. 2; AAF78954).	cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGCTTCTGGGGCAGGGGGCC	0.582000													55	69					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356419	70356419	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:70356419C>A	ENST00000333646.6	+	37	5513	c.5314C>A	c.(5314-5316)Ccg>Acg	p.P1772T	MED12_ENST00000374080.3_Missense_Mutation_p.P1772T|MED12_ENST00000374102.1_Missense_Mutation_p.P1772T|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1772	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AACTGACAAACCGGGGGCTGC	0.612000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						5	19					1.23904e-05	1.40329e-05	1	1	0
MYH6	4624	broad.mit.edu	37	14	23851721	23851721	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:23851721C>T	ENST00000405093.3	-	38	5782	c.5712G>A	c.(5710-5712)gaG>gaA	p.E1904E	MYH6_ENST00000356287.3_Silent_p.E1904E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1904					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCATCCAGCTCATGCTGCA	0.607000													45	134					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151900020	151900020	+	Splice_Site	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:151900020T>C	ENST00000355193.2	-	26	4309	c.4092_splice	c.e26+1	p.Q1364_splice	KMT2C_ENST00000262189.6_Splice_Site_p.Q1364_splice					lysine (K)-specific methyltransferase 2C																		AAATATTACTTGTAAATAGGC	0.269000													4	17					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137710864	137710864	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:137710864G>A	ENST00000371817.3	+	57	4825	c.4411G>A	c.(4411-4413)Ggc>Agc	p.G1471S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1471	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGACTTCCCGGCCTCAAAGG	0.602000													13	39					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135776873	135776873	+	Splice_Site	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:135776873T>A	ENST00000367800.4	-	8	1559	c.1344_splice	c.e8+1	p.E448_splice	AHI1_ENST00000327035.6_Splice_Site_p.E448_splice|AHI1_ENST00000457866.2_Splice_Site_p.E448_splice	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	448						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATTCATACCTCAAAGAACAG	0.318000													4	11					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26377323	26377323	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:26377323C>A	ENST00000265944.5	+	15	1717	c.1551C>A	c.(1549-1551)atC>atA	p.I517I	MYO3A_ENST00000543632.1_Silent_p.I517I	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	517	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCCGAGTTATCCACCAAGCTA	0.348000													15	24					6.72482e-11	8.7223e-11	1	1	0
EIF3J	8669	broad.mit.edu	37	15	44829397	44829397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:44829397C>A	ENST00000261868.5	+	1	143	c.5C>A	c.(4-6)gCg>gAg	p.A2E	EIF3J_ENST00000424492.3_Missense_Mutation_p.A2E|EIF3J_ENST00000535391.1_Missense_Mutation_p.A2E	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	2	Poly-Ala.|Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CTCGAGATggcggcggcggcg	0.721000													11	18					0.00829132	0.00866619	1	1	0
OR4C13	283092	broad.mit.edu	37	11	49974506	49974506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:49974506G>A	ENST00000555099.1	+	1	564	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTTATGTGTGATCTCTACAC	0.423000													50	131					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379541	107379541	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:107379541G>C	ENST00000259362.1	-	1	944	c.945C>G	c.(943-945)ttC>ttG	p.F315L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACTTGCTAAAGAACCTTCTGT	0.353000													6	130					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000335960.6_Silent_p.P493P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582000													5	1					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766182	77766182	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:77766182A>C	ENST00000521891.2	+	10	7473	c.7025A>C	c.(7024-7026)gAt>gCt	p.D2342A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2297A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2297A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2316A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2297						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGATGATGATGCCCAAGAT	0.433000										HNSCC(33;0.089)			93	143					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153052970	153052970	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:153052970G>T	ENST00000370092.3	-	8	808	c.623C>A	c.(622-624)gCg>gAg	p.A208E	IDH3G_ENST00000427365.2_Missense_Mutation_p.A150E|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.A208E|IDH3G_ENST00000217901.5_Missense_Mutation_p.A208E	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	208					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.A208V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCTCTCCTGCGCCAGCTTGAA	0.607000													13	71					0.000151284	0.000167478	1	1	0
NALCN	259232	broad.mit.edu	37	13	101881765	101881765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr13:101881765G>T	ENST00000251127.6	-	13	1686	c.1605C>A	c.(1603-1605)gaC>gaA	p.D535E	NALCN_ENST00000376196.3_Missense_Mutation_p.D535E|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	535						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGTAAATCTGTCCAGTTCTT	0.338000													63	55					1.12357e-39	1.98011e-39	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962803	34962803	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:34962803G>C	ENST00000329357.5	+	1	1891	c.1855G>C	c.(1855-1857)Gac>Cac	p.D619H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	619										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATGGACTTACGACTCTGTTAA	0.398000													5	220					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961919	34961919	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:34961919C>A	ENST00000329357.5	+	1	1007	c.971C>A	c.(970-972)cCc>cAc	p.P324H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	324	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCGGAGCCTCCCGAGGCTGGA	0.587000													51	53					2.12129e-23	3.37516e-23	1	1	0
MUC20	200958	broad.mit.edu	37	3	195453013	195453013	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:195453013C>T	ENST00000320736.6	+	3	1152	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	MUC20_ENST00000447234.2_Silent_p.P513P|MUC20_ENST00000445522.2_Silent_p.P478P|MUC20_ENST00000436408.1_Silent_p.P513P	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	513	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGACAGCACCCGGGGCCACGA	0.582000													15	37					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41008369	41008369	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:41008369G>T	ENST00000308423.2	+	4	2254	c.2094G>T	c.(2092-2094)ggG>ggT	p.G698G	AOC3_ENST00000591562.1_Silent_p.G155G	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	698					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGACTGTGGGGAACGGCGTGG	0.542000													39	172					9.85521e-28	1.64114e-27	1	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679990	75679990	+	RNA	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:75679990G>T	ENST00000408868.1	+	0	77					NR_031714.1																						AGAATTCTATGCACTTTCCTG	0.517000													9	89					0.000673444	0.000727098	1	1	0
MCM8	84515	broad.mit.edu	37	20	5932736	5932736	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr20:5932736G>A	ENST00000378896.3	+	2	452	c.75G>A	c.(73-75)ggG>ggA	p.G25G	MCM8_ENST00000265187.4_Silent_p.G25G|MCM8_ENST00000378886.2_Silent_p.G25G|MCM8_ENST00000378883.1_Silent_p.G25G	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	25					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAGGTGGTGGGAACTTCTCAG	0.408000													13	71					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47107248	47107248	+	Silent	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:47107248G>C	ENST00000377107.2	+	21	3036	c.2682G>C	c.(2680-2682)ctG>ctC	p.L894L	USP11_ENST00000218348.3_Silent_p.L937L			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	937					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GACGCCTGCTGTCCCCGGCCG	0.647000													4	40					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733664	28733664	+	RNA	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:28733664C>A	ENST00000550043.1	+	0	69																											GCCCCCGGGCCGCGGCGCTCC	0.662000													2	2					0.0016	0.00172274	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31040252	31040252	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:31040252G>A	ENST00000355537.3	+	4	3873	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCAAGCCCAGGACCCCTTGG	0.647000													12	34					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105139429	105139429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:105139429G>T	ENST00000369839.3	+	4	1201	c.1178G>T	c.(1177-1179)gGa>gTa	p.G393V	TAF5_ENST00000351396.4_Missense_Mutation_p.G393V	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	393					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GATGAAGAGGGAGAAAATGAA	0.343000													14	7					4.36969e-10	5.61205e-10	1	1	0
CYP2C19	1557	broad.mit.edu	37	10	96580312	96580312	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:96580312C>T	ENST00000371321.3	+	6	961	c.879C>T	c.(877-879)gaC>gaT	p.D293D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	293					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTGCAGCTGACTTACTTGGAG	0.423000													31	89					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370789	20370789	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:20370789G>T	ENST00000302451.4	-	12	1855	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	536					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTCCAGCTCAGGCGACTGCTG	0.502000													45	178					1.8453e-21	2.85512e-21	1	1	0
NRXN2	9379	broad.mit.edu	37	11	64428238	64428238	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:64428238C>A	ENST00000265459.6	-	10	2633	c.2172G>T	c.(2170-2172)cgG>cgT	p.R724R	NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Silent_p.R693R|NRXN2_ENST00000409571.1_Silent_p.R717R|NRXN2_ENST00000377551.1_Silent_p.R724R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	724	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCTCACAGACCCGCCCAAGAA	0.592000													38	95					4.32679e-17	6.36865e-17	1	1	0
MOSPD2	158747	broad.mit.edu	37	X	14933886	14933886	+	Splice_Site	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:14933886G>A	ENST00000380492.3	+	12	1274	c.1186_splice	c.e12+1	p.G396_splice	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Splice_Site_p.G396_splice	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	396	MSP.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCCCCATGGGGGTGAGTTGTC	0.522000													9	120					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472856	39472856	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:39472856C>T	ENST00000518318.2	+	7	1249	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	POU6F2_ENST00000559001.1_Silent_p.L348L|POU6F2_ENST00000403058.1_Silent_p.L403L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	403	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGCATCACGCTGTCACCCAT	0.587000													30	59					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126228	38126228	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:38126228A>T	ENST00000351218.2	-	6	1771	c.1214T>A	c.(1213-1215)aTt>aAt	p.I405N	ZFP30_ENST00000514101.2_Missense_Mutation_p.I405N|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.I405N	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTCTCCAATGTGAATACC	0.388000													10	46					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350537	139350537	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:139350537C>A	ENST00000313050.7	-	17	5705	c.5632G>T	c.(5632-5634)Gtt>Ttt	p.V1878F	SEC16A_ENST00000290037.6_Missense_Mutation_p.V1700F|SEC16A_ENST00000371706.3_Missense_Mutation_p.V1700F|SEC16A_ENST00000431893.2_Missense_Mutation_p.V1700F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1700	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGCAGGTGAACCAGCCACGTG	0.572000													14	56					0.00185496	0.0019918	1	1	0
CT45A5	441521	broad.mit.edu	37	X	134948043	134948043	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:134948043C>A	ENST00000370724.3	-	3	526	c.282G>T	c.(280-282)gtG>gtT	p.V94V	CT45A5_ENST00000491480.1_Silent_p.V94V|CT45A4_ENST00000420087.2_Intron	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	94										endometrium(1)|large_intestine(2)|lung(6)	9						CATTTCCTCCCACAGGTGCAT	0.433000													143	182					3.75851e-85	6.80689e-85	1	1	0
CCDC17	149483	broad.mit.edu	37	1	46086760	46086760	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:46086760A>T	ENST00000421127.2	-	11	1530	c.1387T>A	c.(1387-1389)Ttg>Atg	p.L463M	CCDC17_ENST00000343901.2_Missense_Mutation_p.L440M|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_5'UTR|CCDC17_ENST00000528266.1_Missense_Mutation_p.L472M	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	472										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCACAGACCAAAGATACTGAT	0.522000													9	27					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1654058	1654058	+	Translation_Start_Site	SNP	C	C	T	rs61777495	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:1654058C>T	ENST00000356200.3	-	0	212				CDK11A_ENST00000357760.2_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGAACTTCACCGAAGAAGCG	0.338000													4	60					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754453	76754453	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr18:76754453C>G	ENST00000536229.3	+	1	2772	c.2063C>G	c.(2062-2064)cCa>cGa	p.P688R	SALL3_ENST00000537592.2_Missense_Mutation_p.P821R|SALL3_ENST00000575389.2_Missense_Mutation_p.P821R			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGGCCAAGCCACTCCTGTCC	0.637000													10	33					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644447	20644447	+	RNA	SNP	T	T	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:20644447T>G	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGACGGCCACTCACCTCTGAG	0.637000													4	41					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65423256	65423256	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:65423256A>T	ENST00000519389.1	+	13	2469	c.2290A>T	c.(2290-2292)Agg>Tgg	p.R764W	HEPH_ENST00000441993.2_Missense_Mutation_p.R713W|HEPH_ENST00000343002.2_Missense_Mutation_p.R710W|HEPH_ENST00000336279.5_Missense_Mutation_p.R443W|HEPH_ENST00000419594.1_Missense_Mutation_p.R521W|HEPH_ENST00000374727.3_Missense_Mutation_p.R713W			Q9BQS7	HEPH_HUMAN	hephaestin	710	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGCAGGGATGAGGGCAATCTA	0.502000													10	71					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934073	10934073	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr21:10934073T>A	ENST00000298232.7	-	15	1217	c.850A>T	c.(850-852)Atc>Ttc	p.I284F	TPTE_ENST00000342420.5_Missense_Mutation_p.I264F|TPTE_ENST00000361285.4_Missense_Mutation_p.I302F|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	302	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAATCATGATTCTAACGACC	0.318000													28	123					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138886710	138886710	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:138886710G>T	ENST00000370557.1	-	6	1502	c.475C>A	c.(475-477)Ctt>Att	p.L159I	ATP11C_ENST00000327569.3_Missense_Mutation_p.L162I|ATP11C_ENST00000370543.1_Missense_Mutation_p.L162I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L162I|ATP11C_ENST00000359686.2_Missense_Mutation_p.L162I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	162					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGAAGAATAAGATCACAGGGA	0.378000													7	240					0.00198382	0.00211859	1	1	0
ROR2	4920	broad.mit.edu	37	9	94519681	94519681	+	Silent	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:94519681C>G	ENST00000375708.3	-	3	534	c.336G>C	c.(334-336)cgG>cgC	p.R112R	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	112	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATTCTGTCTTCCGGATGATGA	0.577000													31	118					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046905	73046905	+	RNA	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:73046905C>A	ENST00000604411.1	+	0	34866				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCTCAAGTCTCAAACCATCTG	0.463000													44	59					3.76604e-16	5.38201e-16	1	1	0
UBE2A	7319	broad.mit.edu	37	X	118717138	118717138	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:118717138G>T	ENST00000371569.5	+	3	1400	c.154G>T	c.(154-156)Gct>Tct	p.A52S	UBE2A_ENST00000371558.2_Missense_Mutation_p.A127S|UBE2A_ENST00000346330.3_Missense_Mutation_p.A97S	NM_181777.1	NP_861442.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	127					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CAGCCAGGCTGCTCAGCTGTA	0.413000								Rad6 pathway					17	117					9.16793e-09	1.13302e-08	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039840	31039840	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:31039840G>T	ENST00000355537.3	+	4	3461	c.3314G>T	c.(3313-3315)tGt>tTt	p.C1105F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGCATTTTGTAACTTCCCA	0.552000													14	85					7.93312e-07	9.41908e-07	1	1	0
CCDC34	91057	broad.mit.edu	37	11	27379015	27379015	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:27379015A>T	ENST00000317945.6	-	2	472	c.433T>A	c.(433-435)Tgg>Agg	p.W145R	CCDC34_ENST00000328697.6_Missense_Mutation_p.W145R	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	145										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CACACCTCCCATGGTGTCAGG	0.418000													41	102					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351985	132351985	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:132351985G>C	ENST00000310125.4	-	1	391	c.303C>G	c.(301-303)aaC>aaG	p.N101K		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	101						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CTCCTTTCCTGTTGTGCTGCC	0.572000													43	71					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522967	23522967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:23522967G>T	ENST00000296682.3	+	8	1037	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	285	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGACGAAGAGGCAGCCAACA	0.537000										HNSCC(3;0.000094)			44	107					1.00001e-27	1.65824e-27	1	1	0
PRCP	5547	broad.mit.edu	37	11	82561106	82561106	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:82561106C>A	ENST00000313010.3	-	5	795	c.601G>T	c.(601-603)Gca>Tca	p.A201S	PRCP_ENST00000393399.2_Missense_Mutation_p.A222S|PRCP_ENST00000535099.1_Missense_Mutation_p.A96S	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	201	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GCAGAAGCTGCAAGAGCTCTA	0.313000													11	20					3.86212e-05	4.31197e-05	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11672496	11672496	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:11672496A>G	ENST00000262442.3	+	38	7470	c.7402A>G	c.(7402-7404)Atg>Gtg	p.M2468V	DNAH9_ENST00000454412.2_Missense_Mutation_p.M2468V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2468	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGCGGTTGATGGCGCGGCA	0.622000													24	65					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385021	41385021	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr21:41385021G>T	ENST00000400454.1	-	33	6456	c.5979C>A	c.(5977-5979)ctC>ctA	p.L1993L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1993				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCGGGAGTCGAGCAGTGATT	0.532000													23	34					0.000375601	0.000413477	1	1	0
INS-IGF2	723961	broad.mit.edu	37	11	2182185	2182185	+	Missense_Mutation	SNP	C	C	G	rs121908259		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:2182185C>G	ENST00000397270.1	-	2	75	c.17G>C	c.(16-18)cGc>cCc	p.R6P	INS_ENST00000250971.3_Missense_Mutation_p.R6P|INS_ENST00000512523.1_Missense_Mutation_p.R6P|INS_ENST00000397262.1_Missense_Mutation_p.R6P|INS_ENST00000381330.4_Missense_Mutation_p.R6P	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		6					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGGCAGGAGGCGCATCCACAG	0.672000													26	38					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059603	59059603	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:59059603G>A	ENST00000361488.3	+	5	1694	c.814G>A	c.(814-816)Gcg>Acg	p.A272T	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	272						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCGAGTGGACGCGGACGTGGA	0.537000													65	102					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45802747	45802747	+	Splice_Site	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:45802747C>G	ENST00000357450.4	-	3	298		c.e3-1		SMC1B_ENST00000404354.3_Splice_Site	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B						chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGCATCCCCCTAAAATAAAA	0.294000													28	61					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912617	111912617	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:111912617G>C	ENST00000368761.5	-	2	1151	c.673C>G	c.(673-675)Cag>Gag	p.Q225E	TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.Q234E|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Q225E|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	234					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GGGAGGTCCTGGGGGTAACAC	0.587000													53	119					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25877971	25877971	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:25877971T>C	ENST00000376351.3	+	8	2148	c.1789T>C	c.(1789-1791)Tgc>Cgc	p.C597R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	597						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTTATCTCTGCTATGCAGT	0.393000													8	24					0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61017423	61017423	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:61017423C>T	ENST00000312403.5	+	8	1139	c.954C>T	c.(952-954)ccC>ccT	p.P318P	PGA5_ENST00000541528.1_Silent_p.P58P|PGA5_ENST00000451616.2_Silent_p.P164P|PGA4_ENST00000422676.2_Silent_p.P318P	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	318					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						GCAGCCTGCCCGACATCGTCT	0.562000													6	28					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:38389495C>A	ENST00000390344.2	-	0	128																											CTTAAAACTCCGGCCCCACTC	0.542000													5	42					0.184627	0.186526	1	1	0
HIVEP1	3096	broad.mit.edu	37	6	12161913	12161913	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:12161913G>T	ENST00000379388.2	+	8	7061	c.6729G>T	c.(6727-6729)acG>acT	p.T2243T	HIVEP1_ENST00000541134.1_Silent_p.T108T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2243					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGGTACACACGGACCCAATGG	0.557000													16	45					3.45872e-05	3.89477e-05	1	1	0
OR14K1	343170	broad.mit.edu	37	1	247902351	247902351	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:247902351G>T	ENST00000283225.2	+	1	435	c.435G>T	c.(433-435)ctG>ctT	p.L145L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGATGGCTCTGTCCTGGCTCA	0.522000													21	128					2.37509e-13	3.21866e-13	1	1	0
FAM46D	169966	broad.mit.edu	37	X	79698698	79698698	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:79698698C>A	ENST00000538312.1	+	5	994	c.660C>A	c.(658-660)caC>caA	p.H220Q	FAM46D_ENST00000308293.5_Missense_Mutation_p.H220Q	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	220										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATTTGCAACACAAGCTCATAT	0.458000													9	84					1.76689e-08	2.15649e-08	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153220168	153220168	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:153220168G>T	ENST00000310441.7	-	17	4648	c.3682C>A	c.(3682-3684)Ctt>Att	p.L1228I	HCFC1_ENST00000369984.4_Missense_Mutation_p.L1228I|HCFC1_ENST00000354233.3_Missense_Mutation_p.L1159I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1228					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGCAGGAAGGTCCTTAATG	0.677000													4	16					0.000602214	0.000653785	1	1	0
PRRX2	51450	broad.mit.edu	37	9	132481637	132481637	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:132481637C>T	ENST00000372469.4	+	2	614	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	129						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CGCACTACCCCGACGCCTTTG	0.701000													4	4					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519244	73519244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:73519244C>A	ENST00000436467.2	-	2	1189	c.802G>T	c.(802-804)Gct>Tct	p.A268S	EGR4_ENST00000545030.1_Missense_Mutation_p.A371S			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	267						intracellular	nucleic acid binding|zinc ion binding	p.A268T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGCGGGAAAGCGTCATAGGCC	0.667000													5	12					1.024e-07	1.23445e-07	1	1	0
KRT19P2	160313	broad.mit.edu	37	12	95228661	95228661	+	RNA	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:95228661G>T	ENST00000405395.2	+	0	432					NR_036685.1																						GCACCCTCCAGGGTCTTGAGA	0.567000													3	2					0.115264	0.117354	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55032434	55032434	+	Missense_Mutation	SNP	A	A	C	rs112137140		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:55032434A>C	ENST00000417545.2	+	2	189	c.103A>C	c.(103-105)Atg>Ctg	p.M35L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	19						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCCATCTGCATGAACTACTT	0.493000													16	53					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157069054	157069054	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:157069054C>T	ENST00000454449.2	-	2	459	c.175G>A	c.(175-177)Gcc>Acc	p.A59T		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TGCTGCCAGGCGATGACATGG	0.577000													43	51					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197025028	197025028	+	Splice_Site	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:197025028C>G	ENST00000367412.1	-	8	1215		c.e8-1			NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide						blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCATTATTTTCTAAGAAAAGA	0.333000													17	31					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670188	158670188	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:158670188C>A	ENST00000359610.2	-	1	298	c.255G>T	c.(253-255)ctG>ctT	p.L85L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCTCACTAAGCAGGCTAGACA	0.458000													25	125					7.33532e-06	8.47877e-06	1	1	0
UNC79	57578	broad.mit.edu	37	14	94084613	94084613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:94084613C>T	ENST00000553484.1	+	30	4520	c.4366C>T	c.(4366-4368)Cag>Tag	p.Q1456*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q1434*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q1257*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.Q1434*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1434						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTCAATGCGCAGTATCATAG	0.428000													19	14					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46222881	46222881	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:46222881C>T	ENST00000336378.4	+	2	138	c.20C>T	c.(19-21)cCc>cTc	p.P7L	FAM21C_ENST00000374362.2_Missense_Mutation_p.P7L|FAM21C_ENST00000540872.1_Missense_Mutation_p.P7L|FAM21C_ENST00000359860.4_Missense_Mutation_p.P6L|FAM21C_ENST00000537517.1_Missense_Mutation_p.P7L	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	7										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CGGACGACCCCCGACCAGGAG	0.721000													9	29					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118803036	118803036	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:118803036T>A	ENST00000368491.3	-	8	2272	c.1651A>T	c.(1651-1653)Aaa>Taa	p.K551*	CEP85L_ENST00000368488.5_Nonsense_Mutation_p.K554*	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	551						centrosome											TCTTCAAGTTTTTTTTCTGTA	0.318000													4	14					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207480	19207480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:19207480G>T	ENST00000263200.10	-	18	2905	c.2833C>A	c.(2833-2835)Cgc>Agc	p.R945S	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R945S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R945S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	945	Heavy chain arm.|Proximal segment.		R -> H (in dbSNP:rs36077768).		anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.R945C(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCAGGTAGCGGGCCTCGCTT	0.542000			T	?	ALCL								78	191					4.12397e-46	7.36692e-46	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100551755	100551755	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:100551755C>A	ENST00000319509.7	+	1	506	c.506C>A	c.(505-507)cCa>cAa	p.P169Q						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACTCTTACTCCATCAACAGCC	0.493000													7	596					8.73648e-17	1.26695e-16	1	1	0
RYR1	6261	broad.mit.edu	37	19	39001376	39001376	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:39001376G>C	ENST00000355481.4	+	60	9208	c.9077G>C	c.(9076-9078)gGc>gCc	p.G3026A	RYR1_ENST00000360985.3_Missense_Mutation_p.G3026A|RYR1_ENST00000359596.3_Missense_Mutation_p.G3026A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3026					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAAGTGCTGGGCAGCGGTGGC	0.562000													48	164					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39745819	39745819	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:39745819T>A	ENST00000005257.2	+	5	976	c.596T>A	c.(595-597)aTc>aAc	p.I199N	RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	199					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GCCAAGAGAATCAGAGAAAGA	0.318000													21	157					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059299	248059299	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:248059299C>T	ENST00000537741.1	+	3	668	c.411C>T	c.(409-411)aaC>aaT	p.N137N	OR2W3_ENST00000360358.3_Silent_p.N137N			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATCATGAACCCCAGGCTCT	0.627000													36	73					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34642922	34642922	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:34642922T>C	ENST00000537011.1	+	4	1209	c.827T>C	c.(826-828)cTg>cCg	p.L276P	NUTM1_ENST00000438749.3_Missense_Mutation_p.L266P|NUTM1_ENST00000333756.4_Missense_Mutation_p.L248P					NUT midline carcinoma, family member 1																		CTTCGTTCCCTGGCCCGGCTG	0.542000													13	62					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409841	105409841	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:105409841G>A	ENST00000333244.5	-	7	12066	c.11947C>T	c.(11947-11949)Cca>Tca	p.P3983S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3983						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACTTGCCTGGGGCAGACACC	0.612000													185	132					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107430450	107430450	+	Silent	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:107430450T>C	ENST00000394872.2	-	23	2061	c.1830A>G	c.(1828-1830)aaA>aaG	p.K610K	COL4A6_ENST00000372216.4_Silent_p.K610K|COL4A6_ENST00000538570.1_Silent_p.K609K|COL4A6_ENST00000334504.7_Silent_p.K609K|COL4A6_ENST00000545689.1_Silent_p.K609K			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGATGGCCTTTTTCACCAG	0.512000									Alport syndrome with Diffuse Leiomyomatosis				4	215					0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176857914	176857914	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:176857914T>A	ENST00000272748.4	-	3	312	c.65A>T	c.(64-66)gAt>gTt	p.D22V	KIAA1715_ENST00000535310.1_5'UTR|KIAA1715_ENST00000466445.1_5'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.D22V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	22						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACATACCTTATCTATACTTTC	0.289000													11	33					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118972225	118972225	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:118972225G>C	ENST00000409993.2	-	3	1692	c.141C>G	c.(139-141)aaC>aaG	p.N47K	DPAGT1_ENST00000354202.4_Missense_Mutation_p.N47K|DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	47					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGCTGGTTTTGTTGAGGTCCT	0.642000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	113	200					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245697	202245697	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:202245697C>A	ENST00000332624.3	-	16	2742	c.2314G>T	c.(2314-2316)Gct>Tct	p.A772S		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	772				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAAGGGATAGCCAGGGATTTA	0.507000													53	168					7.47603e-22	1.1613e-21	1	1	0
FBN1	2200	broad.mit.edu	37	15	48829894	48829894	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:48829894C>A	ENST00000316623.5	-	7	1105	c.650G>T	c.(649-651)tGg>tTg	p.W217L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	217	TB 1.		W -> G (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGGTGGCCCCAGGCTCGGCC	0.597000													63	87					1.69475e-38	2.96017e-38	1	1	0
C2CD5	9847	broad.mit.edu	37	12	22680723	22680723	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:22680723T>A	ENST00000333957.4	-	4	536	c.281A>T	c.(280-282)gAt>gTt	p.D94V	C2CD5_ENST00000545552.1_Missense_Mutation_p.D94V|C2CD5_ENST00000542676.1_Missense_Mutation_p.D94V|C2CD5_ENST00000396028.2_Missense_Mutation_p.D94V|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Missense_Mutation_p.D94V|C2CD5_ENST00000446597.1_Missense_Mutation_p.D94V	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		CAGTAAAGGATCAATATCAAT	0.343000													39	24					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667421	33667421	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:33667421G>T	ENST00000321505.4	+	16	4888	c.4708G>T	c.(4708-4710)Gca>Tca	p.A1570S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1576S					KIAA1549-like																		CGCGGGCCACGCAGGCCAGAG	0.682000													21	36					4.35082e-09	5.44545e-09	1	1	0
ZMYM3	9203	broad.mit.edu	37	X	70473064	70473064	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:70473064G>T	ENST00000373998.1	-	2	739	c.42C>A	c.(40-42)acC>acA	p.T14T	ZMYM3_ENST00000353904.2_Silent_p.T14T|ZMYM3_ENST00000314425.5_Silent_p.T14T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.T14T|ZMYM3_ENST00000373984.3_Silent_p.T14T|ZMYM3_ENST00000373978.1_Silent_p.T14T|ZMYM3_ENST00000373981.1_Silent_p.T14T|ZMYM3_ENST00000373982.1_Silent_p.T14T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	14					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTCTGGCAGGGTCAATGGGT	0.552000											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0.014758	0.0152228	1	1	0
CCIN	881	broad.mit.edu	37	9	36170358	36170358	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:36170358C>A	ENST00000335119.2	+	1	970	c.859C>A	c.(859-861)Cag>Aag	p.Q287K		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	287					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCTCGGTGGCCAGAAGGCCCA	0.577000													16	93					4.7546e-09	5.91316e-09	1	1	0
DLX5	1749	broad.mit.edu	37	7	96653918	96653918	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:96653918G>T	ENST00000222598.4	-	1	491	c.18C>A	c.(16-18)gaC>gaA	p.D6E	DLX5_ENST00000486603.2_Missense_Mutation_p.D6E|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	6					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGACCCTTCTGTCAAACACTC	0.627000													15	116					4.75885e-15	6.70332e-15	1	1	0
CBLN4	140689	broad.mit.edu	37	20	54579085	54579085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr20:54579085G>T	ENST00000064571.2	-	1	1443	c.143C>A	c.(142-144)cCg>cAg	p.P48Q		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	48						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GTCCGTGGCCGGGTTCGAGTC	0.682000													22	94					3.5997e-14	4.9638e-14	1	1	0
DCTN5	84516	broad.mit.edu	37	16	23672586	23672586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:23672586G>T	ENST00000300087.2	+	4	483	c.332G>T	c.(331-333)gGg>gTg	p.G111V	DCTN5_ENST00000568589.1_Missense_Mutation_p.G111V|DCTN5_ENST00000563998.1_Missense_Mutation_p.G111V	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	111						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		GTTCATGTTGGGAAGAACTGT	0.458000													25	28					1.5548e-18	2.31453e-18	1	1	0
RPL23AP82	284942	broad.mit.edu	37	22	51237429	51237429	+	RNA	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:51237429C>T	ENST00000480246.1	+	0	679					NR_026982.1																						TGAAGAAGCTCTATGACAGTG	0.463000													25	55					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363444	182363444	+	Silent	SNP	A	A	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:182363444A>C	ENST00000397033.2	+	15	2065	c.1635A>C	c.(1633-1635)acA>acC	p.T545T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	545					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACGTGATTACAGGAAGCATAC	0.368000													23	74					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55613087	55613087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:55613087C>T	ENST00000262134.5	+	13	1565	c.1381C>T	c.(1381-1383)Ctt>Ttt	p.L461F	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	461	EF-hand 2.				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ACAGGCTTCCCTTGGAGTGCC	0.458000													13	67					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151260063	151260063	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:151260063C>T	ENST00000368879.2	+	2	1394	c.1296C>T	c.(1294-1296)acC>acT	p.T432T		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGACTGCCACCAGCCCTAAGA	0.642000													54	64					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156912534	156912534	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:156912534C>A	ENST00000368194.3	-	33	4313	c.3274G>T	c.(3274-3276)Ggc>Tgc	p.G1092C	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1052C|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G468C|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1052					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGTGGGCCCAGCTTGGAG	0.527000													14	104					4.7546e-09	5.91316e-09	1	1	0
TRPM7	54822	broad.mit.edu	37	15	50902102	50902102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:50902102C>A	ENST00000313478.7	-	18	2618	c.2337G>T	c.(2335-2337)aaG>aaT	p.K779N	TRPM7_ENST00000560955.1_Missense_Mutation_p.K779N	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	779					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACATTTCAGCCTTAGTTTTAT	0.353000													26	45					1.2476e-16	1.8026e-16	1	1	0
PARD6G	84552	broad.mit.edu	37	18	78005177	78005177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr18:78005177C>G	ENST00000353265.3	-	1	252	c.55G>C	c.(55-57)Gtg>Ctg	p.V19L	PARD6G_ENST00000470488.2_Missense_Mutation_p.V19L	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	19	OPR.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTGACTTCCACTGCGCTGCAA	0.667000													18	46					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918652	154918652	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:154918652C>T	ENST00000368463.3	-	10	1569	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	PBXIP1_ENST00000368465.1_Missense_Mutation_p.E471K|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E345K|PBXIP1_ENST00000539880.1_Missense_Mutation_p.E327K	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	500					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTCCTTTCCCGGCCAGAT	0.577000													137	309					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85487876	85487876	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:85487876G>T	ENST00000394573.1	+	17	1945	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.L581L|SLC28A1_ENST00000537624.1_Silent_p.L581L|SLC28A1_ENST00000538177.1_Silent_p.L415L	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	581					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGTGTCCCTGGTGAACGCCT	0.632000													35	22					1.836e-18	2.71259e-18	1	1	0
CCHCR1	54535	broad.mit.edu	37	6	31112816	31112816	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:31112816G>A	ENST00000396268.3	-	14	2099	c.1911C>T	c.(1909-1911)gcC>gcT	p.A637A	CCHCR1_ENST00000376266.5_Silent_p.A548A|CCHCR1_ENST00000451521.2_Silent_p.A601A|CCHCR1_ENST00000396263.2_Silent_p.A495A	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	548					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCAGCTGCTGGGCCACCTTGC	0.652000													11	67					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160275	41160275	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:41160275G>C	ENST00000263413.3	-	11	1917	c.1653C>G	c.(1651-1653)aaC>aaG	p.N551K	C6_ENST00000337836.5_Missense_Mutation_p.N551K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	551	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTTTCTCACAGTTCTCACCAT	0.453000													4	164					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136403032	136403032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:136403032G>T	ENST00000264160.4	+	16	1928	c.1558G>T	c.(1558-1560)Gga>Tga	p.G520*	R3HDM1_ENST00000409606.1_Nonsense_Mutation_p.G520*|R3HDM1_ENST00000410054.1_Nonsense_Mutation_p.G464*|R3HDM1_ENST00000409478.1_Nonsense_Mutation_p.G391*|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000329971.3_Nonsense_Mutation_p.G391*	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	520							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAAGTGCCTGGACCTCCACA	0.458000													20	123					7.41877e-09	9.19741e-09	1	1	0
SOX3	6658	broad.mit.edu	37	X	139586680	139586680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:139586680G>T	ENST00000370536.2	-	1	545	c.546C>A	c.(544-546)gaC>gaA	p.D182E		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	182					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCTTCTCGGCGTCGGTCAGCA	0.612000													28	126					2.65835e-16	3.81288e-16	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113301606	113301606	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:113301606G>C	ENST00000297405.5	-	57	9380	c.9136C>G	c.(9136-9138)Cct>Gct	p.P3046A	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2976A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3006A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2877A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3046	Sushi 21.					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						GAACAATGAGGTTGTGATCCA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			37	89					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9307306	9307306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:9307306G>T	ENST00000261336.2	-	29	3708	c.3680C>A	c.(3679-3681)cCa>cAa	p.P1227Q	PZP_ENST00000381997.2_Missense_Mutation_p.P1013Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGTGGGGGCTGGCTGGGCCGT	0.572000													16	25					1.15088e-07	1.38316e-07	1	1	0
MGAT3	4248	broad.mit.edu	37	22	39884172	39884172	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:39884172C>A	ENST00000341184.6	+	2	1035	c.820C>A	c.(820-822)Ctg>Atg	p.L274M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	274					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CTATGTCTTCCTGGACCACTT	0.652000													40	170					1.61004e-24	2.59322e-24	1	1	0
ZNF93	81931	broad.mit.edu	37	19	20044521	20044521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:20044521G>T	ENST00000343769.5	+	4	785	c.757G>T	c.(757-759)Gga>Tga	p.G253*	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	253						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CATTCATACTGGAAAGAAACC	0.363000													29	41					5.45727e-16	7.77068e-16	1	1	0
HECW1	23072	broad.mit.edu	37	7	43594194	43594194	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:43594194A>T	ENST00000395891.1	+	29	5119	c.4514A>T	c.(4513-4515)tAc>tTc	p.Y1505F	HECW1_ENST00000453890.1_Missense_Mutation_p.Y1471F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1505	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGTGCAGGTTACCACGATGGG	0.527000													4	23					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104390	184104390	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:184104390G>T	ENST00000204604.1	+	16	2289	c.2043G>T	c.(2041-2043)gtG>gtT	p.V681V	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000450923.1_Silent_p.V681V|CHRD_ENST00000348986.3_Silent_p.V641V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	681					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCCGCCTGTGGTGCCTGGTC	0.731000													8	11					1.12685e-05	1.28363e-05	1	1	0
ZNF683	257101	broad.mit.edu	37	1	26689561	26689561	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:26689561T>A	ENST00000436292.1	-	5	1219	c.1099A>T	c.(1099-1101)Aag>Tag	p.K367*	ZNF683_ENST00000374204.1_Nonsense_Mutation_p.K367*|ZNF683_ENST00000403843.1_Nonsense_Mutation_p.K367*|ZNF683_ENST00000349618.3_Nonsense_Mutation_p.K367*			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTGGTGCTTCTGCAGGTGG	0.582000													15	15					0	0	1	0	0
CCDC34	91057	broad.mit.edu	37	11	27379014	27379014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:27379014C>A	ENST00000317945.6	-	2	473	c.434G>T	c.(433-435)tGg>tTg	p.W145L	CCDC34_ENST00000328697.6_Missense_Mutation_p.W145L	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	145										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CCACACCTCCCATGGTGTCAG	0.423000													41	102					1.57019e-19	2.38257e-19	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188106	57188106	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:57188106T>G	ENST00000331162.4	-	5	1286	c.1016A>C	c.(1015-1017)aAc>aCc	p.N339T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTAGTAAGGTTTGAGGACCA	0.448000													27	26					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55253386	55253386	+	Missense_Mutation	SNP	C	C	A	rs143886863	byFrequency	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:55253386C>A	ENST00000371276.4	-	3	840	c.737G>T	c.(736-738)cGa>cTa	p.R246L	TTC22_ENST00000371274.4_Missense_Mutation_p.R246L	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	246							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GTCCCCACCTCGGTGGCGGGG	0.657000													3	18					2.56e-06	2.99429e-06	1	1	0
OR5D14	219436	broad.mit.edu	37	11	55563896	55563896	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:55563896C>A	ENST00000335605.1	+	1	865	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CATGCTGAACCCTCTGATCTA	0.418000													19	72					8.34094e-07	9.87346e-07	1	1	0
PATE1	160065	broad.mit.edu	37	11	125618506	125618506	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:125618506C>A	ENST00000305738.5	+	5	271	c.259C>A	c.(259-261)Ccc>Acc	p.P87T	PATE1_ENST00000437148.2_Missense_Mutation_p.P75T	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	87						extracellular region				large_intestine(1)|lung(5)	6						GGATGGTAATCCCTGGTTAAC	0.463000													24	48					6.12954e-19	9.1943e-19	1	1	0
ZNF480	147657	broad.mit.edu	37	19	52819190	52819190	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:52819190G>T	ENST00000595962.1	+	4	369	c.303G>T	c.(301-303)agG>agT	p.R101S	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Missense_Mutation_p.R24S|ZNF480_ENST00000334564.7_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CAGATGGGAGGGAGTGCATCA	0.438000													10	10					1.5842e-08	1.9456e-08	1	1	0
POLA1	5422	broad.mit.edu	37	X	24750510	24750510	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:24750510C>A	ENST00000379068.3	+	16	1753	c.1710C>A	c.(1708-1710)gtC>gtA	p.V570V	POLA1_ENST00000379059.3_Silent_p.V564V|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	564					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	CAGCTTTGGTCCATCACAGTT	0.413000													4	50					1.23904e-05	1.40329e-05	1	1	0
VWC2	375567	broad.mit.edu	37	7	49951642	49951642	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:49951642T>A	ENST00000340652.3	+	4	1395	c.839T>A	c.(838-840)tTt>tAt	p.F280Y	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	280					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCAAACTGCTTTGCAGAAACC	0.388000													39	63					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155028313	155028313	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:155028313G>T	ENST00000356955.2	+	7	761	c.660G>T	c.(658-660)gtG>gtT	p.V220V	ADAM15_ENST00000447332.3_Silent_p.V204V|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Silent_p.V220V|ADAM15_ENST00000271836.6_Silent_p.V220V|ADAM15_ENST00000360674.4_Silent_p.V220V|ADAM15_ENST00000355956.2_Silent_p.V220V|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Silent_p.V220V|ADAM15_ENST00000531455.1_Silent_p.V230V|ADAM15_ENST00000359280.4_Silent_p.V220V	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	220	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTGATTGTGGCTGATCACT	0.587000													25	163					7.87624e-14	1.07852e-13	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45021253	45021253	+	RNA	SNP	A	A	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:45021253A>G	ENST00000454753.1	-	0	1341							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCAGATGCCGACTCCCTGGTG	0.572000													6	32					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833394	139833394	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:139833394G>T	ENST00000303045.6	-	7	1676	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E	COL22A1_ENST00000435777.1_Missense_Mutation_p.D410E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	410	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGGCACACTGTCGTAGAGGC	0.592000										HNSCC(7;0.00092)			17	38					6.94344e-10	8.88851e-10	1	1	0
GOLGA8EP	390535	broad.mit.edu	37	15	23441132	23441132	+	RNA	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:23441132G>T	ENST00000526079.1	+	0	1211					NR_027407.1|NR_033350.1																						GGGTAGAGACGCTGGAGAGGA	0.567000													29	465					6.33695e-27	1.03768e-26	1	1	0
AMER2	219287	broad.mit.edu	37	13	25745118	25745118	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr13:25745118C>A	ENST00000357816.2	-	2	1115	c.640G>T	c.(640-642)Gcc>Tcc	p.A214S	AMER2_ENST00000515384.1_Missense_Mutation_p.A214S|AMER2_ENST00000381853.3_Missense_Mutation_p.A214S					APC membrane recruitment protein 2																		ccctccgcggccTCCGCCTTG	0.726000													10	28					9.70103e-10	1.23783e-09	1	1	0
EIF2S2	8894	broad.mit.edu	37	20	32677589	32677589	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr20:32677589C>T	ENST00000374980.2	-	9	1170	c.949G>A	c.(949-951)Ggc>Agc	p.G317S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	317						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GCCTGGAAGCCGGTTTTGATA	0.488000													17	87					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439838	43439838	+	RNA	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:43439838C>T	ENST00000406070.2	-	0	244				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGAAGAACATCCTTCCCCTCG	0.473000													33	186					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66391825	66391825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:66391825C>T	ENST00000310137.4	+	2	617	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	RBM14_ENST00000409738.4_Intron|RBM14_ENST00000443702.1_3'UTR|RBM14_ENST00000461478.1_3'UTR|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	160					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGGCTGTCCAGTCTGGGGA	0.592000													29	61					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879370	151879370	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:151879370G>A	ENST00000355193.2	-	36	5793	c.5575C>T	c.(5575-5577)Cca>Tca	p.P1859S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1859S					lysine (K)-specific methyltransferase 2C																		ATCCGGGATGGGGCTGGAGGA	0.517000													61	113					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660635	125660635	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:125660635G>T	ENST00000431078.1	+	22	3974	c.3610G>T	c.(3610-3612)Gac>Tac	p.D1204Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1204					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCATGGTGGACTCAGATGT	0.532000													7	14					1.12685e-05	1.28363e-05	1	1	0
FAM9C	171484	broad.mit.edu	37	X	13061040	13061040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:13061040C>A	ENST00000542843.1	-	4	421	c.211G>T	c.(211-213)Gca>Tca	p.A71S	FAM9C_ENST00000333995.3_Missense_Mutation_p.A71S|FAM9C_ENST00000380625.3_Missense_Mutation_p.A71S			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	71						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						AACATACCTGCAATATCTTCT	0.348000													4	50					0.00909568	0.00943167	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37322207	37322207	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:37322207C>G	ENST00000262825.5	+	4	596	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V	CSF2RB_ENST00000403662.3_Missense_Mutation_p.L127V|CSF2RB_ENST00000536485.1_Missense_Mutation_p.L68V|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L127V	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	127					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACCGTCACTCTGACCCAGCA	0.617000													24	56					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148712329	148712329	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:148712329C>T	ENST00000296721.4	+	17	2145	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R683W	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	683							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGCGCCGGATTGACCT	0.577000													23	26					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52567304	52567304	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:52567304T>A	ENST00000356297.4	-	2	281	c.181A>T	c.(181-183)Aga>Tga	p.R61*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R61*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	61					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTCTTATTCTGTTAAACCTC	0.363000													23	34					0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192545059	192545059	+	Splice_Site	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:192545059T>C	ENST00000367459.3	+	1	203	c.137_splice	c.e1+1	p.F46_splice	RGS1_ENST00000469578.2_Splice_Site_p.F46_splice	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	46					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CCAAAGACTTTGTAAGTTTGT	0.368000													28	46					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792589	35792589	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:35792589G>T	ENST00000342694.2	+	1	439	c.184G>T	c.(184-186)Gtg>Ttg	p.V62L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	62					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGCACTGCCCGTGGACCTGCG	0.657000													61	48					2.14255e-21	3.30205e-21	1	1	0
TFEB	7942	broad.mit.edu	37	6	41652556	41652556	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:41652556G>T	ENST00000230323.4	-	10	1513	c.1212C>A	c.(1210-1212)ggC>ggA	p.G404G	TFEB_ENST00000420312.1_Silent_p.G319G|TFEB_ENST00000403298.4_Silent_p.G404G|TFEB_ENST00000358871.2_Silent_p.G418G|TFEB_ENST00000373033.1_Silent_p.G404G	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	404	Pro-rich.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CGTCCTCCCTGCCCCCAAAGC	0.687000			T	ALPHA	renal (childhood epithelioid)								32	43					2.61193e-14	3.62717e-14	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63447766	63447766	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:63447766C>T	ENST00000322893.7	-	6	1034	c.766G>A	c.(766-768)Gtt>Att	p.V256I	KCNH5_ENST00000394964.2_Missense_Mutation_p.V198I|KCNH5_ENST00000420622.2_Missense_Mutation_p.V256I|KCNH5_ENST00000394968.1_Missense_Mutation_p.V198I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	256					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGAAAAATAACGTCCACCACA	0.423000													22	51					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147450011	147450011	+	Silent	SNP	A	A	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:147450011A>C	ENST00000359874.3	+	3	280	c.207A>C	c.(205-207)atA>atC	p.I69I	SPINK5_ENST00000256084.7_Silent_p.I69I|SPINK5_ENST00000398454.1_Silent_p.I69I	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	69					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAATGATACTGTGAGTAA	0.318000													32	25					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110059615	110059615	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:110059615A>G	ENST00000230124.3	+	7	858	c.734A>G	c.(733-735)gAc>gGc	p.D245G	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	245	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GTGCATCGTGACTGGCTTTTG	0.328000													41	94					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141297	114141297	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:114141297T>C	ENST00000371950.3	+	6	1325	c.601T>C	c.(601-603)Tac>Cac	p.Y201H	HTR2C_ENST00000276198.1_Silent_p.I232I|HTR2C_ENST00000371951.1_Silent_p.I232I	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTATGGTGATTACGTATTGCC	0.498000													12	533					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	63					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331961	17331961	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:17331961G>A	ENST00000452699.1	-	3	385	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R66C|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R66C	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	66					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCTTCCAACGGAAGAGCAGC	0.607000													10	47					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115350991	115350991	+	Silent	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:115350991T>A	ENST00000357872.4	+	17	2617	c.2493T>A	c.(2491-2493)atT>atA	p.I831I	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		831					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTTATGGCATTGCCTTGGGAA	0.308000													9	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477612	179477612	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:179477612G>A	ENST00000589042.1	-	265	50060	c.49836C>T	c.(49834-49836)ctC>ctT	p.L16612L	TTN_ENST00000359218.5_Silent_p.L7672L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.L14971L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.L7739L|TTN_ENST00000342992.6_Silent_p.L14044L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.L7547L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14971	Fibronectin type-III 20.						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)			TGAGCCCTGGGAGCAAGTGCT	0.517000													6	51					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20348993	20348993	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr20:20348993C>A	ENST00000310227.1	+	1	229	c.82C>A	c.(82-84)Cgc>Agc	p.R28S		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	28	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GGACGGCGACCGCGCACTGCT	0.806000													3	12					0.004672	0.00489626	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55405983	55405983	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:55405983C>T	ENST00000314612.2	+	1	150	c.150C>T	c.(148-150)acC>acT	p.T50T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCACGTGCACCCAGCTCATTC	0.388000													48	125					0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086479	46086479	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr21:46086479T>A	ENST00000360770.3	-	1	365	c.325A>T	c.(325-327)Agc>Tgc	p.S109C	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	109	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GGCCTGCAGCTCACAGGCACG	0.642000													38	73					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900014	151900014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:151900014C>A	ENST00000393900.3	-	3	1140	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	MAGEA12_ENST00000393869.3_Missense_Mutation_p.G263C|MAGEA12_ENST00000357916.4_Missense_Mutation_p.G263C|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	263	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCACTGCCGGGGACCTGC	0.557000													39	207					8.20599e-20	1.24998e-19	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48798590	48798590	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:48798590G>C	ENST00000314191.2	-	37	4744	c.4688C>G	c.(4687-4689)tCa>tGa	p.S1563*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1563*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1564					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GATCGTTTCTGAGAACAAGCT	0.478000								Non-homologous end-joining					69	125					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81650538	81650538	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:81650538A>T	ENST00000558726.1	-	7	830	c.695T>A	c.(694-696)cTa>cAa	p.L232Q	TMC3_ENST00000359440.5_Missense_Mutation_p.L232Q|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	232						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CATCCCCACTAGGAAATACGC	0.453000													53	34					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1730380	1730380	+	Silent	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:1730380G>C	ENST00000313288.4	+	4	1357	c.1251G>C	c.(1249-1251)ccG>ccC	p.P417P		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACTTCATCCCGTTCGGAGGTG	0.622000													57	46					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461013	160461013	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:160461013C>A	ENST00000368059.3	-	3	617	c.548G>T	c.(547-549)tGg>tTg	p.W183L	SLAMF6_ENST00000368055.1_Missense_Mutation_p.W72L|SLAMF6_ENST00000368057.3_Missense_Mutation_p.W183L	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	183	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CCTGGGGTCCCAGGAGACAGT	0.493000													52	112					2.73381e-35	4.73298e-35	1	1	0
LRRC36	55282	broad.mit.edu	37	16	67401041	67401041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:67401041G>T	ENST00000329956.6	+	8	895	c.876G>T	c.(874-876)ttG>ttT	p.L292F	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.L171F|LRRC36_ENST00000563189.1_Missense_Mutation_p.L171F|LRRC36_ENST00000290940.7_Missense_Mutation_p.L24F	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	292										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AAAAGGAATTGATACCAAAAC	0.428000													24	90					3.08376e-08	3.74049e-08	1	1	0
NFAT5	10725	broad.mit.edu	37	16	69726412	69726412	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:69726412C>G	ENST00000349945.1	+	14	3954	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	NFAT5_ENST00000393742.2_Missense_Mutation_p.S801C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S895C|NFAT5_ENST00000354436.2_Missense_Mutation_p.S877C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S801C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S894C	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	877					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AACACGTTATCTAATcaacag	0.473000													14	23					0	0	1	0	0
MARCH3	115123	broad.mit.edu	37	5	126250704	126250704	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr5:126250704C>A	ENST00000308660.5	-	3	825	c.311G>T	c.(310-312)tGg>tTg	p.W104L	MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Missense_Mutation_p.W104L	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	104					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		GGATGACAGCCAGTGCTCCAG	0.567000													9	42					2.17888e-05	2.46063e-05	1	1	0
AKAP1	8165	broad.mit.edu	37	17	55193488	55193488	+	Silent	SNP	C	C	T	rs61731972	byFrequency	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:55193488C>T	ENST00000337714.3	+	7	2531	c.2298C>T	c.(2296-2298)gcC>gcT	p.A766A	AKAP1_ENST00000572557.1_Silent_p.A766A|AKAP1_ENST00000571629.1_Silent_p.A766A|AKAP1_ENST00000539273.1_Silent_p.A766A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	766	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCATCTGTGCCGCCCCTGGTG	0.647000													11	85					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41630661	41630661	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:41630661C>A	ENST00000331105.2	+	8	1074	c.1002C>A	c.(1000-1002)cgC>cgA	p.R334R		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	334					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGGTGGGACGCGCGCGGCTGC	0.672000													10	31					0.000442599	0.000483171	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129795005	129795005	+	Silent	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:129795005C>A	ENST00000358825.5	-	13	1893	c.1662G>T	c.(1660-1662)cgG>cgT	p.R554R	PRDM10_ENST00000360871.3_Silent_p.R550R|PRDM10_ENST00000423662.2_Silent_p.R468R|PRDM10_ENST00000304538.6_Silent_p.R464R|PRDM10_ENST00000526082.1_Silent_p.R468R|PRDM10_ENST00000528746.1_Silent_p.R524R	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGTTCCCCTCCCGCCCATGGA	0.527000													76	157					3.25985e-27	5.36034e-27	1	1	0
NDUFB11	54539	broad.mit.edu	37	X	47002081	47002081	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:47002081G>T	ENST00000377811.3	-	2	1094	c.270C>A	c.(268-270)gtC>gtA	p.V90V	NDUFB11_ENST00000276062.8_Silent_p.V90V	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	90					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CAAAGAAGAAGACAAGTCGCA	0.542000													9	93					1.12685e-05	1.28363e-05	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121267516	121267516	+	Silent	SNP	T	T	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:121267516T>G	ENST00000297848.3	+	23	3060	c.2790T>G	c.(2788-2790)gtT>gtG	p.V930V	COL14A1_ENST00000247781.3_Silent_p.V835V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V930V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	930	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAAACATGTTGAAATGACCA	0.458000													12	163					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62293100	62293100	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:62293100G>T	ENST00000371158.2	+	16	1939	c.1825G>T	c.(1825-1827)Ggc>Tgc	p.G609C	INADL_ENST00000316485.6_Missense_Mutation_p.G609C	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	609	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTAGGTCAATGGCATGCAGCT	0.413000													74	143					7.97268e-31	1.36824e-30	1	1	0
ZP1	22917	broad.mit.edu	37	11	60637855	60637855	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:60637855T>A	ENST00000278853.5	+	4	733	c.733T>A	c.(733-735)Tgc>Agc	p.C245S		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	245	P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCACCTCCCCTGCATCGTGAG	0.547000													18	25					0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14535990	14535990	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:14535990C>A	ENST00000530457.1	-	5	757	c.227G>T	c.(226-228)aGa>aTa	p.R76I	PSMA1_ENST00000396394.2_Missense_Mutation_p.R101I|PSMA1_ENST00000419365.2_Missense_Mutation_p.R101I|PSMA1_ENST00000418988.2_Missense_Mutation_p.R107I|PSMA1_ENST00000555531.1_Missense_Mutation_p.R101I|PSMA1_ENST00000396393.1_Missense_Mutation_p.R101I			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGGCAGTGGTCTATCGAATAC	0.323000													13	17					1.37285e-15	1.94777e-15	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25488670	25488670	+	RNA	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:25488670C>A	ENST00000453082.2	+	0	2298					NR_003343.1																						AAGCTCAGGCCCTTCCTCACA	0.622000													49	69					3.77016e-25	6.09742e-25	1	1	0
PRSS35	167681	broad.mit.edu	37	6	84234207	84234207	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:84234207G>T	ENST00000536636.1	+	3	1392	c.1047G>T	c.(1045-1047)ggG>ggT	p.G349G	PRSS35_ENST00000369700.3_Silent_p.G349G	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	349	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCGGTTCGGGGGTCTATCTGC	0.522000													34	83					5.91797e-21	9.085e-21	1	1	0
EHD3	30845	broad.mit.edu	37	2	31483658	31483658	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:31483658T>A	ENST00000322054.5	+	4	1070	c.785T>A	c.(784-786)cTc>cAc	p.L262H	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	262					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCCCACCCCCTCCTCATCCCT	0.597000													20	93					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237982409	237982409	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:237982409G>A	ENST00000366574.2	+	101	14824	c.14507G>A	c.(14506-14508)gGa>gAa	p.G4836E	RYR2_ENST00000360064.6_Missense_Mutation_p.G4842E|RYR2_ENST00000542537.1_Missense_Mutation_p.G4820E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4836					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACCCAGCAGGAGATGAATAT	0.413000													10	77					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049585	11049585	+	RNA	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr21:11049585G>T	ENST00000470054.1	-	0	523									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGGTCTCCCGGGCTGTCGCA	0.403000													17	262					2.37509e-13	3.21866e-13	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24924279	24924279	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:24924279C>A	ENST00000329468.2	+	1	3739	c.3265C>A	c.(3265-3267)Cct>Act	p.P1089T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P1089S(1)									CGCCTACATTCCTGGTTTAGA	0.537000													42	146					4.16155e-14	5.71849e-14	1	1	0
PARK2	5071	broad.mit.edu	37	6	162206937	162206937	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:162206937G>T	ENST00000366898.1	-	7	840	c.738C>A	c.(736-738)agC>agA	p.S246R	PARK2_ENST00000366892.1_Missense_Mutation_p.S246R|PARK2_ENST00000366894.1_Missense_Mutation_p.S55R|PARK2_ENST00000338468.3_Missense_Mutation_p.S55R|PARK2_ENST00000366896.1_Missense_Mutation_p.S97R|PARK2_ENST00000366897.1_Missense_Mutation_p.S218R	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	246					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCAGGACGGGGCTCCTGCAGA	0.483000													5	40					0.0293803	0.0301475	1	1	0
TPTE	7179	broad.mit.edu	37	21	10951407	10951407	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr21:10951407A>T	ENST00000298232.7	-	9	618	c.251T>A	c.(250-252)gTc>gAc	p.V84D	TPTE_ENST00000342420.5_Missense_Mutation_p.V64D|TPTE_ENST00000361285.4_Missense_Mutation_p.V102D|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	102					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCCAGTAAGACCAGGAAAAC	0.323000													30	113					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12403044	12403044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:12403044C>T	ENST00000358136.3	+	42	8951	c.8821C>T	c.(8821-8823)Cga>Tga	p.R2941*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R2916*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2940					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAGTGAATGGCGAGAAGTCCT	0.408000													18	56					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74520797	74520797	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:74520797C>T	ENST00000437994.2	+	28	4060	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	CD109_ENST00000287097.5_Missense_Mutation_p.T1210M|CD109_ENST00000422508.2_Missense_Mutation_p.T1133M	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1210						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGACCGTGACGGGGCCTAGC	0.458000													7	65					0	0	1	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182186	2182186	+	Missense_Mutation	SNP	G	G	C	rs121908278		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:2182186G>C	ENST00000397270.1	-	2	74	c.16C>G	c.(16-18)Cgc>Ggc	p.R6G	INS_ENST00000250971.3_Missense_Mutation_p.R6G|INS_ENST00000512523.1_Missense_Mutation_p.R6G|INS_ENST00000397262.1_Missense_Mutation_p.R6G|INS_ENST00000381330.4_Missense_Mutation_p.R6G	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		6					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGCAGGAGGCGCATCCACAGG	0.672000													25	37					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248846	20248846	+	Missense_Mutation	SNP	G	G	T	rs143164519	byFrequency	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:20248846G>T	ENST00000315957.4	+	1	446	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGCTATGCTGCT	0.502000													82	439					5.72486e-32	9.86786e-32	1	1	0
OPRM1	4988	broad.mit.edu	37	6	154360678	154360678	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:154360678C>A	ENST00000434900.2	+	3	796	c.278C>A	c.(277-279)aCc>aAc	p.T93N	OPRM1_ENST00000419506.2_5'UTR|OPRM1_ENST00000428397.2_5'UTR|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000229768.5_5'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000414028.2_5'UTR|OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000330432.7_5'UTR|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000435918.2_5'UTR|OPRM1_ENST00000337049.4_5'UTR|OPRM1_ENST00000524163.1_5'UTR|OPRM1_ENST00000523520.1_3'UTR	NM_001145279.2	NP_001138751.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	0					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GCCGTCAGTACCATGGACAGC	0.652000											OREG0005730	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OPRM1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	4	22					0.150653	0.152989	1	1	0
HLCS	3141	broad.mit.edu	37	21	38302560	38302560	+	Silent	SNP	T	T	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr21:38302560T>A	ENST00000399120.1	-	6	2400	c.1170A>T	c.(1168-1170)tcA>tcT	p.S390S	HLCS_ENST00000336648.3_Silent_p.S390S|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	390					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTCCGCAGCTGACAGCAAGT	0.498000													11	65					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63173978	63173978	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:63173978C>A	ENST00000279178.3	+	7	1332	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	361					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GATTTGCAAACTTTATGGCCT	0.418000													20	103					6.33239e-15	8.88796e-15	1	1	0
LY6H	4062	broad.mit.edu	37	8	144239673	144239673	+	Silent	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:144239673C>T	ENST00000414417.2	-	5	713	c.480G>A	c.(478-480)ggG>ggA	p.G160G	LY6H_ENST00000342752.4_Silent_p.G160G|LY6H_ENST00000430474.2_Silent_p.G139G	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	139					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GACATCAGGGCCCAGCCCAGA	0.716000													12	35					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10790603	10790603	+	Splice_Site	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:10790603G>T	ENST00000449870.1	+	8	1176	c.859_splice	c.e8+1	p.D287_splice	ILF3_ENST00000592763.1_Splice_Site_p.D287_splice|ILF3_ENST00000420083.1_Splice_Site_p.D287_splice|ILF3_ENST00000590261.1_Splice_Site_p.D287_splice|ILF3_ENST00000588657.1_Splice_Site_p.D287_splice|ILF3_ENST00000250241.8_Splice_Site_p.D287_splice|ILF3_ENST00000318511.3_Splice_Site_p.D287_splice|ILF3_ENST00000407004.3_Splice_Site_p.D287_splice|ILF3_ENST00000589998.1_Splice_Site_p.D287_splice	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	287	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGTGATGCCAGGTTGGGGCCT	0.637000													9	30					0.00448238	0.00474818	1	1	0
WDR19	57728	broad.mit.edu	37	4	39217613	39217613	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:39217613G>A	ENST00000399820.3	+	11	1268	c.1114G>A	c.(1114-1116)Gta>Ata	p.V372I	WDR19_ENST00000506503.1_Missense_Mutation_p.V372I|WDR19_ENST00000288634.7_Missense_Mutation_p.V212I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	372					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGAAGTCACCGTAGCCAACCC	0.388000													8	9					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596315	36596315	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:36596315G>A	ENST00000299440.5	+	2	1573	c.1461G>A	c.(1459-1461)atG>atA	p.M487I		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	487					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACCACAAGATGTACAGGACTG	0.537000									Familial Hemophagocytic Lymphohistiocytosis				5	115					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999821	145999821	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:145999821G>A	ENST00000429371.2	-	6	603	c.450C>T	c.(448-450)aaC>aaT	p.N150N	ZNF34_ENST00000343459.4_Silent_p.N171N	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TGCTCTCCCCGTTGGTCAGTG	0.532000													6	35					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812916	2812916	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:2812916G>C	ENST00000301740.8	+	11	2936	c.2387G>C	c.(2386-2388)cGc>cCc	p.R796P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	796	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCACCCAGGCGCAGTCGCTCT	0.522000													83	372					0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61722625	61722625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:61722625C>A	ENST00000449131.2	+	2	105	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	BEST1_ENST00000378043.4_Missense_Mutation_p.L67M|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000435278.2_Missense_Mutation_p.L67M|BEST1_ENST00000378042.3_Missense_Mutation_p.L7M|BEST1_ENST00000534553.1_5'UTR	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	67					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GAAACTGACTCTGTATTGCGA	0.602000													39	70					7.63091e-17	1.11072e-16	1	1	0
POU2F2	5452	broad.mit.edu	37	19	42599696	42599696	+	Splice_Site	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:42599696C>A	ENST00000389341.5	-	10	973		c.e10+1		POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000560558.1_Splice_Site|POU2F2_ENST00000560398.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2						humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGGGGCCTCACCGCTAGAAAA	0.657000													12	26					5.50884e-06	6.38635e-06	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159410159	159410159	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:159410159T>C	ENST00000423932.3	+	1	648	c.611T>C	c.(610-612)gTc>gCc	p.V204A	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	204					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GACACCACTGTCAATGAAATC	0.443000													6	250					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569679	248569679	+	Silent	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:248569679G>C	ENST00000366474.1	+	1	384	c.384G>C	c.(382-384)gtG>gtC	p.V128V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTATTGTGCCTAAGATGC	0.448000													8	223					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400014	13400014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:13400014C>A	ENST00000284110.1	-	2	1518	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.V39L	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	241						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCGCACCACCACGATGAGC	0.632000													32	27					1.07121e-22	1.6907e-22	1	1	0
EYS	346007	broad.mit.edu	37	6	66054070	66054070	+	Splice_Site	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:66054070C>A	ENST00000503581.1	-	10	1997	c.1459_splice	c.e10-1	p.G487_splice	EYS_ENST00000370616.2_Splice_Site_p.G487_splice|EYS_ENST00000393380.2_Splice_Site_p.G487_splice|EYS_ENST00000370618.3_Splice_Site_p.G487_splice|EYS_ENST00000370621.3_Splice_Site_p.G487_splice|EYS_ENST00000342421.5_Splice_Site_p.G487_splice	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	487					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCCTTCAGATCCTTTAAAAAA	0.323000													8	40					0.00307968	0.00327998	1	1	0
SLC18A1	6570	broad.mit.edu	37	8	20036983	20036983	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr8:20036983G>A	ENST00000440926.1	-	4	607	c.137C>T	c.(136-138)cCc>cTc	p.P46L	SLC18A1_ENST00000437980.1_Missense_Mutation_p.P46L|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P46L|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P46L|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P46L|SLC18A1_ENST00000519026.1_Missense_Mutation_p.P46L	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	46					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TAGGAAGGTGGGCACAATTGG	0.512000													38	65					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062965	76062965	+	Splice_Site	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:76062965G>C	ENST00000416245.1	+	3	1278		c.e3+1		ZP3_ENST00000336517.4_Splice_Site|ZP3_ENST00000394857.3_Splice_Site			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)						binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ACTTCCATGGGTGAGCACTGG	0.562000													26	113					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947159	101947159	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:101947159C>A	ENST00000394854.3	-	14	2112	c.1429G>T	c.(1429-1431)Gac>Tac	p.D477Y	PPP3CA_ENST00000523694.2_Missense_Mutation_p.D410Y|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D467Y|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D425Y|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D245Y|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D379Y	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	477	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTAATTCGGTCTAAGCCCTTG	0.453000													27	71					3.65163e-15	5.16219e-15	1	1	0
C14orf182	283551	broad.mit.edu	37	14	50472328	50472328	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:50472328G>A	ENST00000399206.1	-	1	1910	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	64										large_intestine(2)|urinary_tract(1)	3						GGCACAGAGGGATGGGCCCCG	0.517000													55	54					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18273778	18273778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr22:18273778C>A	ENST00000441493.2	-	31	6162	c.5810G>T	c.(5809-5811)cGc>cTc	p.R1937L	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1937						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CACTGCCATGCGTTCCCGGAG	0.637000													18	42					3.32936e-07	3.96496e-07	1	1	0
MYO16	23026	broad.mit.edu	37	13	109779780	109779780	+	Silent	SNP	C	C	T	rs148448924		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr13:109779780C>T	ENST00000356711.2	+	31	3993	c.3867C>T	c.(3865-3867)ctC>ctT	p.L1289L	MYO16_ENST00000357550.2_Silent_p.L1289L|MYO16_ENST00000457511.2_Silent_p.L801L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1289					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCAGCAGCCTCCCGTCTCCAC	0.662000													26	20					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442299	89442299	+	RNA	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr2:89442299C>A	ENST00000492167.1	-	0	157																											GCTCTTTCCCCTGGAGACAAA	0.517000													25	132					6.12954e-19	9.1943e-19	1	1	0
LMOD1	25802	broad.mit.edu	37	1	201869835	201869835	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:201869835C>A	ENST00000367288.4	-	2	552	c.306G>T	c.(304-306)gaG>gaT	p.E102D		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	102				E -> Q (in Ref. 1; CAA38101).	muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCCCCTTTCCTCTCCATTCT	0.478000													22	110					1.40151e-16	2.01756e-16	1	1	0
MZT1	440145	broad.mit.edu	37	13	73293113	73293113	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr13:73293113G>A	ENST00000377818.3	-	2	286	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	68					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTAGCCTTGCGAAGCTCCTTA	0.348000													19	61					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	9					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60531339	60531339	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:60531339C>A	ENST00000405633.3	+	2	212	c.133C>A	c.(133-135)Cca>Aca	p.P45T	MS4A15_ENST00000528170.1_Missense_Mutation_p.P45T|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	45						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GTTTGAGGAGCCACCGCTGGG	0.597000													54	100					5.82388e-19	8.80302e-19	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47960197	47960197	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:47960197A>G	ENST00000236877.6	-	3	1725	c.1330T>C	c.(1330-1332)Tac>Cac	p.Y444H	SLC8A2_ENST00000542837.1_Missense_Mutation_p.Y200H|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	444	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTGTACTCGTAGTCGGAGCCC	0.716000													15	19					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119026307	119026307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:119026307C>A	ENST00000298472.5	+	11	1198	c.1055C>A	c.(1054-1056)gCa>gAa	p.A352E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	352					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GGGATACTTGCACACAAAATG	0.358000													69	49					2.59843e-28	4.36403e-28	1	1	0
XIST	7503	broad.mit.edu	37	X	73071790	73071790	+	RNA	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:73071790G>A	ENST00000429829.1	-	0	798					NR_001564.2																						TCCAGAGAGTGCAACAACCCA	0.443000													17	63					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80746075	80746075	+	Splice_Site	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:80746075G>C	ENST00000458043.2	+	44	5245	c.5238_splice	c.e44-1	p.V1747_splice	OTOGL_ENST00000547103.1_Splice_Site_p.V1735_splice	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTTCTCTAGGTTTCACCGGA	0.348000													14	9					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165356	51165356	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr19:51165356G>T	ENST00000293441.1	-	23	6370	c.6352C>A	c.(6352-6354)Cag>Aag	p.Q2118K	SHANK1_ENST00000391814.1_Missense_Mutation_p.Q2126K|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.Q2109K|SHANK1_ENST00000391813.1_Missense_Mutation_p.Q1505K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2118	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCAGGAACTGGGCTCGGTGC	0.622000													12	54					6.72482e-11	8.7223e-11	1	1	0
SPG11	80208	broad.mit.edu	37	15	44859692	44859692	+	Silent	SNP	G	G	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:44859692G>A	ENST00000261866.7	-	36	6700	c.6684C>T	c.(6682-6684)tgC>tgT	p.C2228C	SPG11_ENST00000427534.2_Silent_p.C2228C|SPG11_ENST00000535302.2_Silent_p.C2115C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2228					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAATCTCCCGGCACATGCTGA	0.542000													4	74					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	18122662	18122662	+	Silent	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr10:18122662G>T	ENST00000239761.3	+	4	775	c.672G>T	c.(670-672)ccG>ccT	p.P224P		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	224					receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						ATAAAGACCCGCTGACCAGCG	0.438000													49	17					2.165e-29	3.68331e-29	1	1	0
OR10A2	341276	broad.mit.edu	37	11	6891465	6891465	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:6891465G>T	ENST00000307322.4	+	1	542	c.480G>T	c.(478-480)aaG>aaT	p.K160N		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACCAACAAGGTGAACCACT	0.547000													57	135					8.44121e-28	1.41166e-27	1	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999671	72999671	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr18:72999671C>T	ENST00000322038.5	+	2	2758	c.2174C>T	c.(2173-2175)cCg>cTg	p.P725L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.P770L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	770						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCGCTGGACCCGCTGGCGATG	0.597000													5	42					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305084	61305084	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr18:61305084C>A	ENST00000341074.5	-	8	1157	c.1042G>T	c.(1042-1044)Gct>Tct	p.A348S	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A296S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.A348T(1)|p.A348S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTACTACAGCGGTGGCAGCT	0.468000													49	71					1.51926e-22	2.38827e-22	1	1	0
ERMARD	55780	broad.mit.edu	37	6	170156509	170156509	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:170156509T>C	ENST00000588451.1	+	4	526	c.13T>C	c.(13-15)Tcg>Ccg	p.S5P	C6orf70_ENST00000418781.3_Missense_Mutation_p.S131P|C6orf70_ENST00000366772.2_Missense_Mutation_p.S131P|C6orf70_ENST00000366773.3_Missense_Mutation_p.S131P|C6orf70_ENST00000392095.4_Missense_Mutation_p.S5P			Q5T6L9	CF070_HUMAN		131						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GAAACTGACATCGTGTCTAGA	0.338000													10	89					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139760	55139760	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr4:55139760C>T	ENST00000257290.5	+	10	1752	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	474	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AACATCATCACGGAGATCCAC	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			29	28					0	0	1	0	0
TAF9B	51616	broad.mit.edu	37	X	77387265	77387265	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:77387265C>G	ENST00000341864.5	-	7	692	c.598G>C	c.(598-600)Gca>Cca	p.A200P		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	200					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						GCAGTTGTTGCAGGAACTGTA	0.373000													22	101					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29356934	29356934	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:29356934G>C	ENST00000343067.4	+	8	1274	c.1147G>C	c.(1147-1149)Gac>Cac	p.D383H	EPB41_ENST00000347529.3_Missense_Mutation_p.D348H|EPB41_ENST00000398863.2_Missense_Mutation_p.D383H|EPB41_ENST00000373800.3_Missense_Mutation_p.D174H|EPB41_ENST00000356093.2_Missense_Mutation_p.D383H|EPB41_ENST00000349460.4_Missense_Mutation_p.D174H|EPB41_ENST00000373797.1_Missense_Mutation_p.D383H|EPB41_ENST00000373798.1_Missense_Mutation_p.D383H	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	383	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGCTCAGGCTGACTTGGAGTT	0.323000													30	57					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818108	146818108	+	Silent	SNP	A	A	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:146818108A>T	ENST00000361727.3	+	6	1308	c.792A>T	c.(790-792)tcA>tcT	p.S264S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	264	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCCACACATCAGTGATGACAG	0.517000										HNSCC(39;0.1)			37	51					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152721053	152721053	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chrX:152721053G>T	ENST00000370219.3	-	8	1464	c.907C>A	c.(907-909)Ccg>Acg	p.P303T	HAUS7_ENST00000370212.3_Missense_Mutation_p.P303T|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.P293T|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_Silent_p.T124T|TREX2_ENST00000334497.2_5'UTR|TREX2_ENST00000338525.2_5'UTR	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	303					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGGCCGCACGGGTGGAGGTCA	0.617000													18	59					6.49762e-13	8.68559e-13	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247836244	247836244	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr1:247836244delC	ENST00000359688.2	-	1	121	c.100delG	c.(100-102)tgfs	p.V34fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			AGAAAAGCCACAAGATAGACA	0.423													32	80	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
WRNIP1	56897	broad.mit.edu	37	6	2765952	2765952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:2765952delC	ENST00000380773.4	+	1	305	c.96delC	c.(94-96)atfs	p.I32fs	WRNIP1_ENST00000380771.4_Frame_Shift_Del_p.I32fs	NM_020135.2	NP_064520.2	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	32					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CCGCGCACATCAACTCGCACC	0.741													11	20	---	---	---	---					
GPR116	221395	broad.mit.edu	37	6	46826017	46826017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:46826017delT	ENST00000283296.7	-	17	3911	c.3623delA	c.(3622-3624)agfs	p.K1208fs	GPR116_ENST00000456426.2_Frame_Shift_Del_p.K1066fs|GPR116_ENST00000545669.1_Frame_Shift_Del_p.K637fs|GPR116_ENST00000265417.7_Frame_Shift_Del_p.K1208fs|GPR116_ENST00000362015.4_Frame_Shift_Del_p.K1208fs	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1208					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTCTCCTGCTTGCATGGCTT	0.517													63	126	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87968496	87968497	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:87968496_87968497insC	ENST00000369577.3	+	8	5192_5193	c.5149_5150insC	c.(5149-5151)cccfs	p.P1717fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.P1712fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TACAGTGTTAGCCCCTTTAACA	0.312													14	25	---	---	---	---					
BCLAF1	9774	broad.mit.edu	37	6	136582444	136582444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr6:136582444delC	ENST00000531224.1	-	12	2968	c.2716delG	c.(2716-2718)aafs	p.E906fs	BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.E904fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.E733fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.E857fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.E855fs|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.E124fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.E855fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	906					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATTATTTTCCATGGTCTCT	0.378													30	194	---	---	---	---					
ZC3HAV1	56829	broad.mit.edu	37	7	138763341	138763342	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:138763341_138763342delCT	ENST00000242351.5	-	5	1845_1846	c.1529_1530delAG	c.(1528-1530)gfs	p.E511fs	ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.E633fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.E511fs	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	511					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACAAATTTCCTCTGAGTCATG	0.381													22	46	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													3	6	---	---	---	---					
FBP1	2203	broad.mit.edu	37	9	97369234	97369234	+	Splice_Site	DEL	C	C	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr9:97369234delC	ENST00000415431.1	-	6	797	c.567_splice	c.e6-1	p.A190_splice	FBP1_ENST00000375326.4_Splice_Site_p.A190_splice	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	190					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TCCCCGATGGCCTTTTTAGAC	0.547													14	83	---	---	---	---					
LRRC32	2615	broad.mit.edu	37	11	76371843	76371843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:76371843delG	ENST00000407242.2	-	3	1036	c.794delC	c.(793-795)cgfs	p.P265fs	LRRC32_ENST00000404995.1_Frame_Shift_Del_p.P265fs|LRRC32_ENST00000260061.5_Frame_Shift_Del_p.P265fs|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	265						integral to plasma membrane		p.P265Q(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GATGAGTCTCGGGAGCGCGGC	0.632													49	118	---	---	---	---					
MAML2	84441	broad.mit.edu	37	11	95712320	95712320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:95712320delG	ENST00000524717.1	-	5	4547	c.3263delC	c.(3262-3264)ctfs	p.P1088fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1088					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTGGGTGAAGGAAAATTGCT	0.493			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								18	107	---	---	---	---					
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr11:119210189_119210190insC	ENST00000445041.2	-	15	3378_3379	c.583_584insG	c.(583-585)catfs	p.H195fs	C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													7	133	---	---	---	---					
RPL41	6171	broad.mit.edu	37	12	56511295	56511296	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:56511295_56511296delAG	ENST00000546591.1	+	3	267_268	c.65_66delAG	c.(64-66)cfs	p.Q22fs	RPL41_ENST00000552314.1_3'UTR|RPL41_ENST00000501597.3_Frame_Shift_Del_p.Q22fs	NM_001035267.1	NP_001030344.1	P62945	RL41_HUMAN	ribosomal protein L41	22					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome							OV - Ovarian serous cystadenocarcinoma(18;0.12)			AAGATGAGGCAGAGGTCCAAGT	0.505													2	4	---	---	---	---					
GPR133	283383	broad.mit.edu	37	12	131456063	131456063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr12:131456063delT	ENST00000261654.5	+	4	807	c.248delT	c.(247-249)ctfs	p.L84fs	GPR133_ENST00000535015.1_Frame_Shift_Del_p.L116fs	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	84					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGAGTCACGCTTCTCTATTAC	0.458													26	21	---	---	---	---					
PIBF1	10464	broad.mit.edu	37	13	73372039	73372053	+	Splice_Site	DEL	TTCAAGGTTCGCTTC	TTCAAGGTTCGCTTC	-	rs142370535		TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr13:73372039_73372053delTTCAAGGTTCGCTTC	ENST00000326291.6	+	5	890_899	c.552_splice	c.e5-1	p.184_splice		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	184						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTTAATTTTTTTCAAGGTTCGCTTCTATGAGCTAG	0.274													10	52	---	---	---	---					
ARHGAP5	394	broad.mit.edu	37	14	32562696	32562696	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr14:32562696delA	ENST00000345122.3	+	2	3136	c.2821delA	c.(2821-2823)aafs	p.K942fs	ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	942					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.N943fs*2(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGTTCTAGAGAAAAAAAATAT	0.343													8	85	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25453213	25453213	+	RNA	DEL	G	G	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr15:25453213delG	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATGCATGGGAGGGGGTTGCCC	0.542													110	159	---	---	---	---					
HAGHL	84264	broad.mit.edu	37	16	778954	778955	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:778954_778955insG	ENST00000341413.4	+	7	940_941	c.659_660insG	c.(658-660)gggfs	p.G220fs	HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	220							hydrolase activity|metal ion binding			lung(3)	3		Hepatocellular(780;0.00335)				GGCTTCGGGGTGGGGGGGGCTC	0.668													9	7	---	---	---	---					
NLRC5	84166	broad.mit.edu	37	16	57059536	57059536	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:57059536delG	ENST00000436936.1	+	6	906	c.681delG	c.(679-681)ttfs	p.L227fs	NLRC5_ENST00000539144.1_Frame_Shift_Del_p.L227fs|NLRC5_ENST00000262510.6_Frame_Shift_Del_p.L227fs|NLRC5_ENST00000308149.7_Frame_Shift_Del_p.L227fs			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	227	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGTGCTTTTGGGGAAGGCTG	0.582													51	209	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71318293	71318293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:71318293delA	ENST00000338099.5	-	3	1867	c.1531delT	c.(1531-1533)gcfs	p.C511fs	FTSJD1_ENST00000434935.2_Frame_Shift_Del_p.C511fs			Q8IYT2	FTSJ1_HUMAN		511						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCACCATTGCAAAAAGGAGAA	0.353													12	26	---	---	---	---					
MLKL	197259	broad.mit.edu	37	16	74709616	74709616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr16:74709616delC	ENST00000308807.7	-	8	1548	c.1085delG	c.(1084-1086)gafs	p.G362fs	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	362	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTCGTAGTTCCCAAACTCAT	0.388													20	47	---	---	---	---					
MIEN1	84299	broad.mit.edu	37	17	37885932	37885935	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:37885932_37885935delACTC	ENST00000577810.1	-	3	281_284	c.267_270delGAGT	c.(265-270)gtfs	p.VS89fs	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000474210.1_Intron|MIEN1_ENST00000394231.3_Intron	NM_032339.3	NP_115715.3	Q9BRT3	CQ037_HUMAN	migration and invasion enhancer 1	89					cell redox homeostasis	cytosol|membrane	selenium binding										CGCTGTAAATACTCACATCTTTCT	0.485													23	234	---	---	---	---					
TRIM47	91107	broad.mit.edu	37	17	73872068	73872069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8514-01A-11D-2393-08	TCGA-55-8514-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43ad090d-2803-4ba4-91bc-b9955910331b	eaab87cf-7618-4ba5-8734-c370651c4dad	g.chr17:73872068_73872069insT	ENST00000254816.2	-	4	1140_1141	c.1114_1115insA	c.(1114-1116)gctfs	p.A372fs	TRIM47_ENST00000587339.1_Frame_Shift_Ins_p.A134fs	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	372						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACGGCCAGCATGTCTCTCACT	0.663													44	88	---	---	---	---					
